# gene_set_details

description_brief: Increased circulating insulin-like growth factor 1 concentration
systematic_name: M45473
exact_source: HP:0030269
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030269
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. [https://orcid.org/0000-0002-0736-9199, PMID:18436706]


description_brief: Abnormal erythrocyte enzyme concentration or activity
systematic_name: M38356
exact_source: HP:0030272
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030272
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. []


description_brief: Lower-limb metaphyseal irregularity
systematic_name: M38357
exact_source: HP:0030291
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030291
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal distal femoral metaphysis morphology
systematic_name: M47247
exact_source: HP:0030299
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030299
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the metaphysis of the distal femur (close to the knee). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the anterior commissure
systematic_name: M46274
exact_source: HP:0030301
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030301
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. [HPO_CONTRIBUTOR:UToronto_bgallinger]


description_brief: Abnormal number of vertebrae
systematic_name: M48855
exact_source: HP:0030304
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030304
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal number of vertebrae in the spinal column. [https://orcid.org/0000-0002-0736-9199]


description_brief: Flared lower limb metaphysis
systematic_name: M46275
exact_source: HP:0030307
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030307
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Upper extremity joint dislocation
systematic_name: M38358
exact_source: HP:0030310
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030310
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Displacement or malalignment of one or more joints in the upper extremity (arm). [https://orcid.org/0000-0002-0736-9199]


description_brief: Lower extremity joint dislocation
systematic_name: M38359
exact_source: HP:0030311
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030311
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Displacement or malalignment of one or more joints in the lower extremity (leg). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal periosteum morphology
systematic_name: M41506
exact_source: HP:0030313
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030313
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Angular cheilitis
systematic_name: M41507
exact_source: HP:0030318
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030318
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of inflammation of the lips involving one or both of the corners of the mouth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Weakness of facial musculature
systematic_name: M38360
exact_source: HP:0030319
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030319
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased intervertebral space
systematic_name: M43476
exact_source: HP:0030320
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030320
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retinal thinning
systematic_name: M38361
exact_source: HP:0030329
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030329
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating gonadotropin concentration
systematic_name: M38362
exact_source: HP:0030338
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030338
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating gonadotropin concentration
systematic_name: M38363
exact_source: HP:0030339
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030339
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating follicle stimulating hormone concentration
systematic_name: M43477
exact_source: HP:0030341
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030341
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction of the circulating level of follicle-stimulating hormone (FSH). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating follicle-stimulating hormone concentration
systematic_name: M38365
exact_source: HP:0030346
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030346
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the circulating level of follicle-stimulating hormone (FSH). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating androgen level
systematic_name: M38366
exact_source: HP:0030347
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030347
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased circulating androgen concentration
systematic_name: M38367
exact_source: HP:0030348
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030348
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [https://orcid.org/0000-0002-0736-9199, PMID:27491213]


description_brief: Decreased circulating androgen concentration
systematic_name: M41508
exact_source: HP:0030349
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030349
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Erythematous papule
systematic_name: M43478
exact_source: HP:0030350
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030350
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal serum insulin-like growth factor 1 level
systematic_name: M38368
exact_source: HP:0030352
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030352
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased serum insulin-like growth factor 1
systematic_name: M38369
exact_source: HP:0030353
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030353
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased circulating interferon-gamma concentration
systematic_name: M46276
exact_source: HP:0030356
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030356
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation in the concentration of interferon gamma measured in the blood circulation. [https://orcid.org/0000-0002-0736-9199, PMID:11335769]


description_brief: Abnormal proportion of class-switched memory B cells
systematic_name: M48856
exact_source: HP:0030386
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030386
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. [https://orcid.org/0000-0002-0736-9199, PMID:19342988]


description_brief: Spoken word recognition deficit
systematic_name: M41510
exact_source: HP:0030391
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030391
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Choroid plexus carcinoma
systematic_name: M41511
exact_source: HP:0030392
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030392
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. [https://orcid.org/0000-0002-0736-9199, PMID:11135453]


description_brief: Abnormal platelet aggregation
systematic_name: M48857
exact_source: HP:0030402
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030402
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. [https://orcid.org/0000-0002-0736-9199]


description_brief: Glucagonoma
systematic_name: M38372
exact_source: HP:0030404
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030404
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pancreatic endocrine tumor
systematic_name: M38373
exact_source: HP:0030405
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030405
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. [https://orcid.org/0000-0002-0736-9199]


description_brief: Primary peritoneal carcinoma
systematic_name: M38374
exact_source: HP:0030406
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030406
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Osteochondroma
systematic_name: M43479
exact_source: HP:0030431
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030431
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. [https://orcid.org/0000-0002-0736-9199, PMID:18271966]


description_brief: Pilomatrixoma
systematic_name: M41513
exact_source: HP:0030434
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030434
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. [https://orcid.org/0000-0002-0736-9199, PMID:21430899]


description_brief: Pulmonary carcinoid tumor
systematic_name: M38375
exact_source: HP:0030445
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030445
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. [https://orcid.org/0000-0002-0736-9199, PMID:21043816, PMID:24179657]


description_brief: Soft tissue sarcoma
systematic_name: M38376
exact_source: HP:0030448
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030448
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. [https://orcid.org/0000-0002-0736-9199]


description_brief: Undetectable light-adapted electroretinogram
systematic_name: M46277
exact_source: HP:0030465
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030465
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. [PMID:25502644]


description_brief: Abnormal pattern electroretinogram
systematic_name: M48858
exact_source: HP:0030467
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030467
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. [https://orcid.org/0000-0002-0736-9199, PMID:17522779, PMID:3076152]


description_brief: Macular thickening
systematic_name: M38382
exact_source: HP:0030498
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030498
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. [https://orcid.org/0000-0003-0986-4123]


description_brief: Macular drusen
systematic_name: M47251
exact_source: HP:0030499
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030499
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula. [https://orcid.org/0000-0002-0736-9199]


description_brief: Moderately reduced visual acuity
systematic_name: M38386
exact_source: HP:0030515
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030515
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. [https://orcid.org/0000-0001-5208-3432, PMID:28779882]


description_brief: Abnormal visual field test
systematic_name: M38389
exact_source: HP:0030588
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030588
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. []


description_brief: Abnormal fundus autofluorescence imaging
systematic_name: M38391
exact_source: HP:0030602
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030602
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. [PMID:27847630]


description_brief: Photoreceptor layer loss on macular OCT
systematic_name: M43481
exact_source: HP:0030609
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030609
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperautofluorescent macular lesion
systematic_name: M43483
exact_source: HP:0030631
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030631
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. [PMID:27847630]


description_brief: Retinal neovascularization
systematic_name: M38394
exact_source: HP:0030666
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030666
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment. [PMID:23329331]


description_brief: Hamartoma of the orbital region
systematic_name: M48862
exact_source: HP:0030670
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030670
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region. []


description_brief: Abnormal morphology of myocardial trabeculae
systematic_name: M38395
exact_source: HP:0030681
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030681
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). []


description_brief: Vein of Galen aneurysmal malformation
systematic_name: M43484
exact_source: HP:0030713
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030713
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. [https://orcid.org/0000-0002-0003-6754, PMID:32706613, PMID:33168212]


description_brief: Central nervous system cyst
systematic_name: M41518
exact_source: HP:0030724
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030724
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A fluid-filled sac (cyst) located within the central nervous system. [https://orcid.org/0000-0002-0736-9199, PMID:11593239, PMID:24455569]


description_brief: Carcinoma
systematic_name: M41519
exact_source: HP:0030731
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030731
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [https://orcid.org/0000-0002-0736-9199]


description_brief: Renal fibrosis
systematic_name: M38398
exact_source: HP:0030760
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030760
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. [https://orcid.org/0000-0002-0736-9199, PMID:16408108]


description_brief: Ear pain
systematic_name: M41522
exact_source: HP:0030766
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030766
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). [PMID:20736106]


description_brief: Abnormality of the protein C anticoagulant pathway
systematic_name: M38399
exact_source: HP:0030780
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030780
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. [https://orcid.org/0000-0002-0736-9199, PMID:12970121, PMID:15943976]


description_brief: Increased circulating free fatty acid level
systematic_name: M47256
exact_source: HP:0030781
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030781
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased circulating interleukin 6 concentration
systematic_name: M43485
exact_source: HP:0030783
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030783
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. [https://orcid.org/0000-0002-0736-9199, PMID:9883970]


description_brief: Anomic aphasia
systematic_name: M38401
exact_source: HP:0030784
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030784
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. [https://orcid.org/0000-0002-0736-9199, PMID:18348092]


description_brief: Abnormal jaw morphology
systematic_name: M38403
exact_source: HP:0030791
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030791
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating C-peptide concentration
systematic_name: M38404
exact_source: HP:0030794
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030794
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. [https://orcid.org/0000-0002-0736-9199, PMID:15198367]


description_brief: Reduced C-peptide level
systematic_name: M41523
exact_source: HP:0030795
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030795
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased C-peptide level
systematic_name: M41524
exact_source: HP:0030796
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030796
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Scaphocephaly
systematic_name: M38405
exact_source: HP:0030799
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030799
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. [https://orcid.org/0000-0002-0736-9199, PMID:16156241, PMID:23960302]


description_brief: Abnormal visual accommodation
systematic_name: M48863
exact_source: HP:0030800
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030800
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. [https://orcid.org/0000-0002-0736-9199]


description_brief: Enlarged tonsils
systematic_name: M41525
exact_source: HP:0030812
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030812
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gingival recession
systematic_name: M38408
exact_source: HP:0030816
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030816
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. []


description_brief: Absent foveal reflex
systematic_name: M38409
exact_source: HP:0030825
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030825
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. [https://orcid.org/0000-0002-0736-9199, PMID:27491360]


description_brief: Wheezing
systematic_name: M38410
exact_source: HP:0030828
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030828
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A high-pitched whistling sound associated with labored breathing. [https://orcid.org/0000-0002-0736-9199, PMID:26229557]


description_brief: Abnormal breath sound
systematic_name: M38411
exact_source: HP:0030829
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030829
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous (adventitious) sound produced by the breathing process. [https://orcid.org/0000-0002-0736-9199]


description_brief: Crackles
systematic_name: M38412
exact_source: HP:0030830
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030830
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. [https://orcid.org/0000-0002-0003-6754, PMID:26229557]


description_brief: Neck pain
systematic_name: M45477
exact_source: HP:0030833
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030833
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. [https://orcid.org/0000-0002-0003-6754]


description_brief: Shoulder pain
systematic_name: M38413
exact_source: HP:0030834
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030834
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. [https://orcid.org/0000-0002-0003-6754]


description_brief: Hip pain
systematic_name: M38414
exact_source: HP:0030838
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030838
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. [https://orcid.org/0000-0002-0003-6754]


description_brief: Knee pain
systematic_name: M43486
exact_source: HP:0030839
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030839
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. [https://orcid.org/0000-0002-0003-6754]


description_brief: Ankle pain
systematic_name: M46280
exact_source: HP:0030840
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030840
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. []


description_brief: Choking episodes
systematic_name: M38415
exact_source: HP:0030842
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030842
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. [https://orcid.org/0000-0002-0736-9199]


description_brief: Heterotaxy
systematic_name: M38417
exact_source: HP:0030853
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030853
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. [https://orcid.org/0000-0002-0736-9199, PMID:21731561]


description_brief: Scleral staphyloma
systematic_name: M41526
exact_source: HP:0030854
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030854
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [https://orcid.org/0000-0002-0736-9199, PMID:22454726]


description_brief: Posterior staphyloma
systematic_name: M46281
exact_source: HP:0030856
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030856
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [https://orcid.org/0000-0002-0736-9199, PMID:25376120]


description_brief: Eye movement-induced pain
systematic_name: M45478
exact_source: HP:0030857
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030857
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. [https://orcid.org/0000-0002-0736-9199, PMID:12928305]


description_brief: Addictive behavior
systematic_name: M48864
exact_source: HP:0030858
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030858
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything. []


description_brief: Abnormality of spinal facet joint
systematic_name: M46282
exact_source: HP:0030870
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030870
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the small joints located between and behind adjacent vertebrae. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of pulmonary circulation
systematic_name: M38420
exact_source: HP:0030875
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030875
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced FEV1/FVC ratio
systematic_name: M41527
exact_source: HP:0030877
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030877
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). [https://orcid.org/0000-0003-4546-6667, PMID:22347750, PMID:24695507]


description_brief: Abnormality on pulmonary function testing
systematic_name: M38421
exact_source: HP:0030878
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030878
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. [https://orcid.org/0000-0002-0736-9199, PMID:22347750, PMID:24695507]


description_brief: Coronary artery aneurysm
systematic_name: M38423
exact_source: HP:0030882
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030882
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. [https://orcid.org/0000-0002-0736-9199, PMID:28374180]


description_brief: Abnormal lymphocyte apoptosis
systematic_name: M48865
exact_source: HP:0030886
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030886
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes. [https://orcid.org/0000-0002-0736-9199, PMID:17562483]


description_brief: Hyperintensity of cerebral white matter on MRI
systematic_name: M38424
exact_source: HP:0030890
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030890
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. [PMID:15576652]


description_brief: Periventricular white matter hyperintensities
systematic_name: M38425
exact_source: HP:0030891
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030891
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. [PMID:15576652]


description_brief: Abnormal gastrointestinal motility
systematic_name: M43488
exact_source: HP:0030895
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030895
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the muscular contractions that propel food though the gastrointestinal tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pruritis on hand
systematic_name: M48866
exact_source: HP:0030899
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030899
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand. []


description_brief: Abnormal peristalsis
systematic_name: M38426
exact_source: HP:0030914
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030914
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the wave-like muscle contractions of the digestive tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary venous hypertension
systematic_name: M38427
exact_source: HP:0030950
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030950
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. []


description_brief: Abnormal morphology of the great vessels
systematic_name: M38429
exact_source: HP:0030962
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030962
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. []


description_brief: Postexertional symptom exacerbation
systematic_name: M41531
exact_source: HP:0030973
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030973
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse. [PMID:25695122, PMID:26904705, PMID:32105793, PMID:33071931]


description_brief: Cryptozoospermia
systematic_name: M43490
exact_source: HP:0030974
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030974
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. [PMID:25780588]


description_brief: Abnormal factor VIII activity
systematic_name: M48868
exact_source: HP:0030976
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030976
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. []


description_brief: Sclerosing cholangitis
systematic_name: M38431
exact_source: HP:0030991
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030991
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. []


description_brief: Acroparesthesia
systematic_name: M43491
exact_source: HP:0031006
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031006
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. []


description_brief: Arteria lusoria
systematic_name: M43492
exact_source: HP:0031014
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031014
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria. [PMID:25105156]


description_brief: Chronic infection
systematic_name: M38434
exact_source: HP:0031035
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031035
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. []


description_brief: Spermatogenesis maturation arrest
systematic_name: M45480
exact_source: HP:0031038
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031038
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. [PMID:21684558]


description_brief: Spermatocyte maturation arrest
systematic_name: M48869
exact_source: HP:0031039
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031039
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. [PMID:21684558]


description_brief: Acral blistering
systematic_name: M43493
exact_source: HP:0031045
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031045
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). []


description_brief: Impairment of activities of daily living
systematic_name: M38435
exact_source: HP:0031058
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031058
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. []


description_brief: Abnormal femoral torsion
systematic_name: M46286
exact_source: HP:0031069
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031069
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. []


description_brief: Abnormal response to ACTH stimulation test
systematic_name: M43495
exact_source: HP:0031074
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031074
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. []


description_brief: Abnormal response to insulin tolerance test
systematic_name: M43496
exact_source: HP:0031075
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031075
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level. []


description_brief: Impaired cortisol response to insulin stimulation test
systematic_name: M45481
exact_source: HP:0031076
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031076
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). []


description_brief: Abnormal response to glucagon stimulation test
systematic_name: M45482
exact_source: HP:0031080
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031080
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). []


description_brief: Decreased circulating prealbumin concentration
systematic_name: M38440
exact_source: HP:0031085
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031085
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of prealbumin in the blood circulation below the lower limit of normal. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status. [PMID:11989633, PMID:17138848]


description_brief: Abnormal thyroid-stimulating hormone level
systematic_name: M41534
exact_source: HP:0031097
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031097
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. []


description_brief: Decreased thyroid-stimulating hormone level
systematic_name: M43497
exact_source: HP:0031098
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031098
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. []


description_brief: Abnormal circulating antimullerian hormone concentration
systematic_name: M45483
exact_source: HP:0031101
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031101
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. [PMID:22693172]


description_brief: Triceps weakness
systematic_name: M38443
exact_source: HP:0031108
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031108
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. []


description_brief: Recurrent gastroenteritis
systematic_name: M38444
exact_source: HP:0031123
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031123
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. []


description_brief: Increased hepatic echogenicity
systematic_name: M48870
exact_source: HP:0031141
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031141
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. [PMID:21472065]


description_brief: Abnormal hepatic echogenicity
systematic_name: M47261
exact_source: HP:0031142
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031142
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). [PMID:21472065]


description_brief: Impaired oropharyngeal swallow response
systematic_name: M38446
exact_source: HP:0031162
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031162
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. [PMID:27785002]


description_brief: Multifocal seizures
systematic_name: M38447
exact_source: HP:0031165
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031165
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). [PMID:27091239]


description_brief: Nuchal rigidity
systematic_name: M38448
exact_source: HP:0031179
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031179
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. [PMID:12060874]


description_brief: Inappropriate antidiuretic hormone secretion
systematic_name: M43500
exact_source: HP:0031218
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031218
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. []


description_brief: Internally nucleated skeletal muscle fibers
systematic_name: M41536
exact_source: HP:0031237
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031237
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. [PMID:22938878]


description_brief: Swollen lip
systematic_name: M43502
exact_source: HP:0031244
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031244
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of the lip typically due to fluid buildup or inflammation. [https://orcid.org/0000-0001-5208-3432]


description_brief: Abnormal renal corpuscle morphology
systematic_name: M45485
exact_source: HP:0031263
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031263
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. []


description_brief: Abnormal Bowman capsule morphology
systematic_name: M43503
exact_source: HP:0031264
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031264
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. []


description_brief: Shock
systematic_name: M38451
exact_source: HP:0031273
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031273
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. []


description_brief: Hypovolemic shock
systematic_name: M43504
exact_source: HP:0031274
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031274
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. []


description_brief: Flushing
systematic_name: M38452
exact_source: HP:0031284
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031284
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. []


description_brief: Cardiomyocyte hypertrophy
systematic_name: M46290
exact_source: HP:0031319
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031319
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. [PMID:15066961, PMID:7626345]


description_brief: Interstitial cardiac fibrosis
systematic_name: M38456
exact_source: HP:0031329
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031329
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. [PMID:10435025]


description_brief: Abnormal cardiomyocyte morphology
systematic_name: M38457
exact_source: HP:0031331
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031331
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. []


description_brief: Dextrotransposition of the great arteries
systematic_name: M46291
exact_source: HP:0031348
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031348
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. [PMID:25082585]


description_brief: Vegetative state
systematic_name: M38458
exact_source: HP:0031358
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031358
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities. [PMID:18771395]


description_brief: Metaphyseal striations
systematic_name: M38461
exact_source: HP:0031367
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031367
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). [PMID:18203204]


description_brief: Abnormal lymphocyte proliferation
systematic_name: M47263
exact_source: HP:0031378
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031378
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. []


description_brief: Abnormal T cell proliferation
systematic_name: M38464
exact_source: HP:0031379
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031379
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. []


description_brief: Decreased lymphocyte proliferation in response to mitogen
systematic_name: M38465
exact_source: HP:0031381
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031381
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). []


description_brief: Decreased lymphocyte proliferation in response to anti-CD3
systematic_name: M41538
exact_source: HP:0031382
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031382
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3. []


description_brief: Abnormal proportion of CD4-positive T cells
systematic_name: M38466
exact_source: HP:0031392
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031392
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. []


description_brief: Abnormal proportion of naive T cells
systematic_name: M46292
exact_source: HP:0031396
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031396
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality in the proportion of naive T cells relative to the total number of T cells. [PMID:12133935]


description_brief: Decreased proportion of naive T cells
systematic_name: M47264
exact_source: HP:0031397
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031397
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally decreased proportion of naive T cells relative to the total number of T cells. [https://orcid.org/0000-0002-0736-9199, PMID:12133935]


description_brief: Abnormal proportion of double-negative alpha-beta regulatory T cell
systematic_name: M43506
exact_source: HP:0031399
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031399
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. [PMID:16285891, PMID:22294241]


description_brief: Reduced antigen-specific T cell proliferation
systematic_name: M41539
exact_source: HP:0031402
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031402
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. []


description_brief: Impaired antigen-specific response
systematic_name: M38470
exact_source: HP:0031404
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031404
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). []


description_brief: Increased proportion of CD25+ mast cells
systematic_name: M43507
exact_source: HP:0031408
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031408
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). [PMID:15371947, PMID:18684881, PMID:22222639]


description_brief: Short telomere length
systematic_name: M47266
exact_source: HP:0031413
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031413
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. []


description_brief: High serum calcitriol
systematic_name: M45486
exact_source: HP:0031415
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031415
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. [HPO_CONTRIBUTOR:RGD_sjwang, PMID:24246681]


description_brief: Increased body mass index
systematic_name: M38473
exact_source: HP:0031418
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031418
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. [PMID:17973940]


description_brief: Abnormal circulating osteocalcin level
systematic_name: M43508
exact_source: HP:0031427
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031427
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of osteocalcin in the blood circulation. [HPO_CONTRIBUTOR:RGD_sjwang, PMID:23737779, PMID:25577163]


description_brief: Pregnancy exposure
systematic_name: M48871
exact_source: HP:0031437
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031437
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. [https://orcid.org/0000-0002-6387-4317]


description_brief: Erosion of oral mucosa
systematic_name: M41541
exact_source: HP:0031446
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031446
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. []


description_brief: Pulmonary opacity
systematic_name: M46295
exact_source: HP:0031457
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031457
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. [PMID:18195376]


description_brief: Soft tissue neoplasm
systematic_name: M38478
exact_source: HP:0031459
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031459
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. [NCIT:C3377]


description_brief: Impairment in personality functioning
systematic_name: M38479
exact_source: HP:0031466
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031466
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. [PMID:23902698]


description_brief: Low self-esteem
systematic_name: M38480
exact_source: HP:0031469
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031469
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Low self-confidence and excessively critical feelings about oneself characterize a negative opinion about oneself. []


description_brief: Status epilepticus without prominent motor symptoms
systematic_name: M38481
exact_source: HP:0031475
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031475
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. [https://orcid.org/0000-0002-1735-8178, PMID:17805245, PMID:22528274, PMID:26336950]


description_brief: Continuous spike and waves during slow sleep
systematic_name: M45487
exact_source: HP:0031491
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031491
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. [PMID:1918335, PMID:28654799]


description_brief: Abnormal circulating T4 concentration
systematic_name: M41542
exact_source: HP:0031505
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031505
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). []


description_brief: Oocyte arrest at metaphase I
systematic_name: M47269
exact_source: HP:0031516
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031516
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. [PMID:27273344, PMID:32473092]


description_brief: Keratoacanthoma
systematic_name: M46297
exact_source: HP:0031525
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031525
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. [NCIT:C3146, PMID:24376301]


description_brief: Increased theta frequency activity in EEG
systematic_name: M43511
exact_source: HP:0031535
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031535
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. []


description_brief: Abnormal dermoepidermal junction morphology
systematic_name: M41543
exact_source: HP:0031538
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031538
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. [PMID:1097542]


description_brief: Abnormally low T cell receptor excision circle level
systematic_name: M46298
exact_source: HP:0031545
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031545
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. [PMID:22001765]


description_brief: Abnormal QT interval
systematic_name: M38486
exact_source: HP:0031547
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031547
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). []


description_brief: Abdominal situs ambiguus
systematic_name: M47270
exact_source: HP:0031565
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031565
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. [Fyler:3817]


description_brief: Abnormal PR interval
systematic_name: M38489
exact_source: HP:0031593
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031593
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. [PMID:23677846]


description_brief: Abnormal P wave
systematic_name: M46299
exact_source: HP:0031595
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031595
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. []


description_brief: Abnormality of fundus pigmentation
systematic_name: M38490
exact_source: HP:0031605
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031605
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. []


description_brief: Geographic atrophy
systematic_name: M38491
exact_source: HP:0031609
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031609
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. [https://orcid.org/0000-0003-0986-4123, PMID:24158023]


description_brief: Polymorphic ventricular tachycardia
systematic_name: M46301
exact_source: HP:0031677
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031677
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). []


description_brief: Erythroid dysplasia
systematic_name: M48873
exact_source: HP:0031688
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031688
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. [PMID:26791933]


description_brief: Megakaryocyte dysplasia
systematic_name: M46302
exact_source: HP:0031689
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031689
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. [PMID:27127725]


description_brief: Opportunistic infection
systematic_name: M38498
exact_source: HP:0031690
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031690
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Compensatory head posture
systematic_name: M41547
exact_source: HP:0031705
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031705
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. []


description_brief: Abnormal ascending aorta morphology
systematic_name: M45488
exact_source: HP:0031784
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031784
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. [MP:0009867]


description_brief: Decreased circulating parathyroid hormone level
systematic_name: M43517
exact_source: HP:0031817
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031817
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally decreased concentration of parathyroid hormone. [HPO_CONTRIBUTOR:RGD_gthayman, PMID:1302009]


description_brief: Increased waist to hip ratio
systematic_name: M47274
exact_source: HP:0031819
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031819
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. [https://orcid.org/0000-0001-5356-4174, PMID:12872269]


description_brief: Abnormal reflex
systematic_name: M38502
exact_source: HP:0031826
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031826
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). []


description_brief: Aortopulmonary collateral arteries
systematic_name: M46304
exact_source: HP:0031834
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031834
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. [MP:0010635, PMID:26467877]


description_brief: Lymphangiectasis
systematic_name: M38503
exact_source: HP:0031842
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031842
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. [MP:0004038]


description_brief: Abnormal hematocrit
systematic_name: M45489
exact_source: HP:0031850
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031850
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. []


description_brief: Isomerism
systematic_name: M43518
exact_source: HP:0031853
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031853
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. [PMID:21731561]


description_brief: Ineffective esophageal peristalsis
systematic_name: M43519
exact_source: HP:0031857
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031857
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. [PMID:28665309]


description_brief: Abnormal heart rate variability
systematic_name: M41548
exact_source: HP:0031860
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031860
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality in the variability of the time interval between successive heartbeats. [PMID:8598068]


description_brief: Acromicria
systematic_name: M38505
exact_source: HP:0031878
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031878
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Small hands and feet in proportion to the rest of the body. [https://orcid.org/0000-0002-0736-9199, PMID:22043168]


description_brief: Agyria
systematic_name: M38507
exact_source: HP:0031882
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031882
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. [http://www.wikidata.org/entity/Q90573458]


description_brief: Abnormal LDL cholesterol concentration
systematic_name: M38508
exact_source: HP:0031886
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031886
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased eosinophil count
systematic_name: M46306
exact_source: HP:0031891
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031891
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal reduction in the count of eosinophils in the blood per volume. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated total serum tryptase
systematic_name: M43520
exact_source: HP:0031901
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031901
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. [PMID:16372800, PMID:19522836, PMID:25169217, PMID:27749843, PMID:3295549]


description_brief: Micrographia
systematic_name: M38510
exact_source: HP:0031908
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031908
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task. []


description_brief: Rhombencephalosynapsis
systematic_name: M48876
exact_source: HP:0031913
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031913
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. [https://orcid.org/0000-0002-3194-8625, PMID:22451504]


description_brief: Ocular flutter
systematic_name: M43521
exact_source: HP:0031931
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031931
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. [https://orcid.org/0000-0003-0986-4123, PMID:17314191]


description_brief: Delayed ability to walk
systematic_name: M38512
exact_source: HP:0031936
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031936
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. []


description_brief: Abnormal conus terminalis morphology
systematic_name: M38513
exact_source: HP:0031938
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031938
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae). []


description_brief: Abnormal portal venous system morphology
systematic_name: M47276
exact_source: HP:0031941
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031941
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins. [PMID:11796904]


description_brief: Usual interstitial pneumonia
systematic_name: M41552
exact_source: HP:0031950
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031950
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. [PMID:26666486, PMID:8697837]


description_brief: Nocturnal seizures
systematic_name: M43522
exact_source: HP:0031951
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031951
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Seizures that occur while the affected individual is sleeping. [PMID:22334817, PMID:23385697, PMID:25941204]


description_brief: Antalgic gait
systematic_name: M48877
exact_source: HP:0031955
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031955
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. [PMID:27770207]


description_brief: Elevated circulating aspartate aminotransferase concentration
systematic_name: M41553
exact_source: HP:0031956
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031956
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. []


description_brief: Spastic paraparetic gait
systematic_name: M38514
exact_source: HP:0031958
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031958
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. [PMID:27770207]


description_brief: Leg dystonia
systematic_name: M45491
exact_source: HP:0031959
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031959
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. []


description_brief: Arm dystonia
systematic_name: M41554
exact_source: HP:0031960
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031960
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. []


description_brief: Elevated serum anion gap
systematic_name: M48878
exact_source: HP:0031962
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031962
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). [PMID:17699401]


description_brief: Elevated circulating alanine aminotransferase concentration
systematic_name: M41555
exact_source: HP:0031964
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031964
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally high concentration in the circulation of alanine aminotransferase (ALT). [PMID:18366115]


description_brief: Abnormal putamen morphology
systematic_name: M46308
exact_source: HP:0031982
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031982
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. []


description_brief: Abnormal pulmonary thoracic imaging finding
systematic_name: M38517
exact_source: HP:0031983
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031983
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. []


description_brief: Diminished ability to concentrate
systematic_name: M38518
exact_source: HP:0031987
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031987
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Being unable to focus one's attention or mental effort on a particular object or activity. [PMID:26386541]


description_brief: Hoffmann sign
systematic_name: M46309
exact_source: HP:0031993
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0031993
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. [PMID:11813951, PMID:20229121]


description_brief: Heterophoria
systematic_name: M38519
exact_source: HP:0032011
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032011
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs. []


description_brief: Heterotropia
systematic_name: M38520
exact_source: HP:0032012
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032012
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Manifest deviation of the visual axes not controlled by fusion. [https://orcid.org/0000-0003-0986-4123]


description_brief: Abnormal sputum
systematic_name: M41556
exact_source: HP:0032016
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032016
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. []


description_brief: Focal cortical dysplasia
systematic_name: M38521
exact_source: HP:0032046
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032046
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. [PMID:12707084]


description_brief: Focal cortical dysplasia type II
systematic_name: M38522
exact_source: HP:0032051
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032051
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. [http://www.wikidata.org/entity/Q90573458, PMID:21219302]


description_brief: Hypereosinophilia
systematic_name: M38523
exact_source: HP:0032061
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032061
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter. [PMID:20538328]


description_brief: Gastrointestinal eosinophilia
systematic_name: M41558
exact_source: HP:0032064
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032064
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. [PMID:17868858, PMID:23964139]


description_brief: Anti-thyroglobulin antibody positivity
systematic_name: M46310
exact_source: HP:0032069
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032069
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. [https://orcid.org/0000-0002-3387-1836, PMID:21196203, PMID:33144894, PMID:33999913, PMID:34634575]


description_brief: Left ventricular outflow tract obstruction
systematic_name: M46311
exact_source: HP:0032092
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032092
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. [PMID:29262119]


description_brief: Unusual infection
systematic_name: M38524
exact_source: HP:0032101
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032101
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. [PMID:22052638]


description_brief: Saccadic oscillation
systematic_name: M38525
exact_source: HP:0032104
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032104
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. [https://orcid.org/0000-0003-0986-4123]


description_brief: Conjunctival icterus
systematic_name: M43524
exact_source: HP:0032106
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032106
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. []


description_brief: Limbal stem cell deficiency
systematic_name: M41559
exact_source: HP:0032107
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032107
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. [https://orcid.org/0000-0003-0986-4123, PMID:26788074]


description_brief: Abnormal peripheral nervous system physiology
systematic_name: M43525
exact_source: HP:0032120
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032120
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. []


description_brief: Very low visual acuity
systematic_name: M45493
exact_source: HP:0032122
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032122
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). []


description_brief: Decreased circulating IgG subclass level
systematic_name: M43527
exact_source: HP:0032135
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032135
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. [PMID:17910333]


description_brief: Decreased specific antibody response to vaccination
systematic_name: M41560
exact_source: HP:0032140
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032140
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]


description_brief: Erythromelalgia
systematic_name: M48879
exact_source: HP:0032147
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032147
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. [https://orcid.org/0000-0002-1089-1543, PMID:26419464]


description_brief: Keratosis pilaris
systematic_name: M38526
exact_source: HP:0032152
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032152
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. [PMID:22628989, PMID:27194977, PMID:30043128]


description_brief: Aphthous ulcer
systematic_name: M41561
exact_source: HP:0032154
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032154
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. [PMID:25346356]


description_brief: Abdominal cramps
systematic_name: M45494
exact_source: HP:0032155
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032155
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. []


description_brief: Unusual skin infection
systematic_name: M41562
exact_source: HP:0032162
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032162
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection. []


description_brief: Severe infection
systematic_name: M38529
exact_source: HP:0032169
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032169
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. []


description_brief: Severe varicella zoster infection
systematic_name: M41564
exact_source: HP:0032170
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032170
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. [PMID:21748081, PMID:23248376]


description_brief: Abnormal circulating globulin concentration
systematic_name: M38530
exact_source: HP:0032179
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032179
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode. []


description_brief: Abnormal proportion of memory T cells
systematic_name: M46312
exact_source: HP:0032182
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032182
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. [PMID:8450264]


description_brief: Abnormal circulating free T3 concentration
systematic_name: M46313
exact_source: HP:0032209
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032209
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. []


description_brief: Perinuclear antineutrophil antibody positivity
systematic_name: M46314
exact_source: HP:0032229
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032229
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. [https://orcid.org/0000-0002-7440-8864, PMID:24854381, PMID:27481040, PMID:28661185]


description_brief: Hypochromia
systematic_name: M38533
exact_source: HP:0032231
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032231
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. []


description_brief: Increased circulating creatine kinase MB isoform
systematic_name: M47280
exact_source: HP:0032232
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032232
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of the MB isoform of creatine kinase in the blood circulation. [PMID:21448658]


description_brief: Abnormal metabolism
systematic_name: M38535
exact_source: HP:0032245
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032245
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. []


description_brief: Granuloma
systematic_name: M46316
exact_source: HP:0032252
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032252
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. [PMID:10908370, PMID:11168676, PMID:937513]


description_brief: Opportunistic fungal infection
systematic_name: M46317
exact_source: HP:0032255
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032255
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system. []


description_brief: Opportunistic bacterial infection
systematic_name: M45495
exact_source: HP:0032260
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032260
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system. []


description_brief: Nontuberculous mycobacterial pulmonary infection
systematic_name: M47282
exact_source: HP:0032261
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032261
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. [PMID:24624285, PMID:7472715]


description_brief: 2-hydroxyglutarate aciduria
systematic_name: M45496
exact_source: HP:0032278
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032278
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. []


description_brief: Lacunar stroke
systematic_name: M47283
exact_source: HP:0032325
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032325
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. [PMID:15834013]


description_brief: Interhemispheric cyst
systematic_name: M46318
exact_source: HP:0032327
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032327
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. [PMID:27195030]


description_brief: Reduced forced vital capacity
systematic_name: M38539
exact_source: HP:0032341
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032341
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction in the amount of air a person can expel following maximal inspiration. [PMID:22347750, PMID:24695507]


description_brief: Abnormal growth hormone level
systematic_name: M38540
exact_source: HP:0032367
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032367
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful. []


description_brief: Periventricular nodular heterotopia
systematic_name: M38542
exact_source: HP:0032388
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032388
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. [http://www.wikidata.org/entity/Q90573458, PMID:22427329]


description_brief: Subcortical heterotopia
systematic_name: M38543
exact_source: HP:0032391
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032391
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of heterotopia were the mislocalized gray matter is located deep within the white matter. [http://www.wikidata.org/entity/Q90573458]


description_brief: Dysgyria
systematic_name: M46319
exact_source: HP:0032398
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032398
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. [http://www.wikidata.org/entity/Q90573458, PMID:26130693, PMID:26564436, PMID:32895508]


description_brief: Subcortical band heterotopia
systematic_name: M43529
exact_source: HP:0032409
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032409
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum. [http://www.wikidata.org/entity/Q90573458, PMID:28413838]


description_brief: Neonatal omphalitis
systematic_name: M46321
exact_source: HP:0032435
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032435
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. [PMID:30020710]


description_brief: Past medical history
systematic_name: M47284
exact_source: HP:0032443
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032443
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc. []


description_brief: Pulmonary cyst
systematic_name: M38544
exact_source: HP:0032445
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032445
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. [PMID:20028879]


description_brief: Aplasia of the olfactory bulb
systematic_name: M46322
exact_source: HP:0032466
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032466
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of formation (congenital absence) of the olfactory bulb. [https://orcid.org/0000-0001-5208-3432, PMID:27863011]


description_brief: Knuckle pad
systematic_name: M45498
exact_source: HP:0032541
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032541
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. [PMID:26672439]


description_brief: Abnormal pulse
systematic_name: M41567
exact_source: HP:0032552
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032552
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart. []


description_brief: Abnormal urinary nucleobase concentration
systematic_name: M47286
exact_source: HP:0032572
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032572
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U). []


description_brief: Abnormal renal insterstitial morphology
systematic_name: M43531
exact_source: HP:0032581
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032581
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. [PMID:25813241]


description_brief: Hand apraxia
systematic_name: M41569
exact_source: HP:0032588
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032588
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. [PMID:20345957]


description_brief: Skewfoot
systematic_name: M43532
exact_source: HP:0032649
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032649
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus. [PMID:9916191]


description_brief: Elevated lactate:pyruvate ratio
systematic_name: M43533
exact_source: HP:0032653
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032653
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. [PMID:28088395]


description_brief: Status epilepticus with prominent motor symptoms
systematic_name: M38547
exact_source: HP:0032658
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032658
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Status epilepticus with prominent motor signs during the prolonged seizure. [https://orcid.org/0000-0002-1735-8178, PMID:26336950]


description_brief: Convulsive status epilepticus
systematic_name: M47288
exact_source: HP:0032660
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032660
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. [https://orcid.org/0000-0002-1735-8178, PMID:22528274, PMID:26336950, PMID:26900382, PMID:9924914]


description_brief: Focal motor status epilepticus
systematic_name: M43534
exact_source: HP:0032663
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032663
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. [https://orcid.org/0000-0002-1735-8178, PMID:26336950]


description_brief: Myoclonic status epilepticus
systematic_name: M46325
exact_source: HP:0032667
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032667
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. [https://orcid.org/0000-0002-1735-8178, PMID:26336950]


description_brief: Non-convulsive status epilepticus without coma
systematic_name: M41570
exact_source: HP:0032671
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032671
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of status epilepticus without prominent motor symptoms in the absence of coma. [https://orcid.org/0000-0002-1735-8178, PMID:26336950]


description_brief: Generalized-onset motor seizure
systematic_name: M38548
exact_source: HP:0032677
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032677
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. [PMID:11580774, PMID:28276060, PMID:28276064]


description_brief: Eyelid myoclonia seizure
systematic_name: M48882
exact_source: HP:0032678
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032678
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. [PMID:19469840]


description_brief: Focal non-motor seizure
systematic_name: M38549
exact_source: HP:0032679
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032679
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. [PMID:28276060, PMID:28276064]


description_brief: Tonic seizure
systematic_name: M38550
exact_source: HP:0032792
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032792
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. [PMID:11580774]


description_brief: Myoclonic seizure
systematic_name: M38551
exact_source: HP:0032794
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032794
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [PMID:11580774]


description_brief: Neonatal seizure
systematic_name: M48883
exact_source: HP:0032807
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032807
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A seizure occurring within the neonatal period (28 days beyond the full term date). [PMID:28276060, PMID:33522601]


description_brief: Generalized non-convulsive status epilepticus without coma
systematic_name: M47289
exact_source: HP:0032860
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032860
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. [PMID:26336950]


description_brief: Focal automatism seizure
systematic_name: M48884
exact_source: HP:0032898
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032898
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. [PMID:11580774, PMID:28276060, PMID:28276064]


description_brief: Focal head nodding automatism seizure
systematic_name: M48885
exact_source: HP:0032906
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032906
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of focal automatism seizure characterized by involuntary head nodding at onset. [PMID:28276060]


description_brief: Airway hyperresponsiveness
systematic_name: M46326
exact_source: HP:0032933
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032933
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist. [PMID:12629006]


description_brief: Renal interstitial fibrosis
systematic_name: M47291
exact_source: HP:0032948
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032948
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. [PMID:22449945]


description_brief: Abnormal bronchoalveolar lavage fluid morphology
systematic_name: M38555
exact_source: HP:0032973
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032973
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. [https://orcid.org/0000-0003-0113-912X]


description_brief: Abnormal cellular composition of bronchoalveolar fluid
systematic_name: M41571
exact_source: HP:0032974
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032974
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. [https://orcid.org/0000-0003-0113-912X, ISBN:0412792702, PMID:10678650, PMID:3396403]


description_brief: Elevated bronchoalveolar lavage fluid neutrophil proportion
systematic_name: M43535
exact_source: HP:0032977
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032977
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. [https://orcid.org/0000-0002-0104-692X, ISBN:0412792702, PMID:10678650, PMID:3396403]


description_brief: Persistent head lag
systematic_name: M43536
exact_source: HP:0032988
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032988
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. [PMID:26709421]


description_brief: Increased fecal porphyrin
systematic_name: M43538
exact_source: HP:0032999
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0032999
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally high concentration of fecal porphyrins in feces. [https://orcid.org/0000-0002-8169-9049, PMID:25372274]


description_brief: Decreased nasal nitric oxide
systematic_name: M43539
exact_source: HP:0033036
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033036
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. [PMID:28481653]


description_brief: Motor regression
systematic_name: M43540
exact_source: HP:0033044
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033044
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. [PMID:27354457, PMID:31737722]


description_brief: Impaired executive functioning
systematic_name: M47293
exact_source: HP:0033051
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033051
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. [PMID:28631987]


description_brief: Decreased circulating terminal complement component concentration
systematic_name: M41572
exact_source: HP:0033057
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033057
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. [PMID:26841934]


description_brief: Abnormal factor IX activity
systematic_name: M48886
exact_source: HP:0033062
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033062
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. []


description_brief: Abnormal circulating free T4 concentration
systematic_name: M46327
exact_source: HP:0033076
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033076
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. [PMID:30725738]


description_brief: Increased urinary non-proteinogenic amino acid level
systematic_name: M41576
exact_source: HP:0033098
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033098
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. []


description_brief: Increased proteinogenic amino acid level in urine
systematic_name: M41578
exact_source: HP:0033100
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033100
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. []


description_brief: Abnormal circulating proteinogenic amino acid concentration
systematic_name: M41579
exact_source: HP:0033107
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033107
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. []


description_brief: Abnormal circulating proteinogenic amino acid derivative concentration
systematic_name: M41580
exact_source: HP:0033108
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033108
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid. []


description_brief: Abnormal circulating non-proteinogenic amino acid concentration
systematic_name: M41581
exact_source: HP:0033109
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033109
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. []


description_brief: Delayed ability to crawl
systematic_name: M46330
exact_source: HP:0033128
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033128
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months. []


description_brief: Abnormal shoulder physiology
systematic_name: M41583
exact_source: HP:0033129
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033129
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm. []


description_brief: Abnormal pulmonary alveolar system morphology
systematic_name: M47294
exact_source: HP:0033137
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033137
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. [https://orcid.org/0000-0003-0113-912X]


description_brief: Long nasal bridge
systematic_name: M46331
exact_source: HP:0033142
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033142
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. []


description_brief: Abnormal circulating ceruloplasmin concentration
systematic_name: M41585
exact_source: HP:0033144
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033144
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation of the concentration of ceruloplasmin in the blood from the normal range. [PMID:32119309]


description_brief: Intrahepatic bile duct dilatation
systematic_name: M46332
exact_source: HP:0033149
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033149
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). [PMID:32386558]


description_brief: Abnormal urinary purine level
systematic_name: M48887
exact_source: HP:0033161
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033161
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines. []


description_brief: Necrotizing enterocolitis
systematic_name: M46333
exact_source: HP:0033165
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033165
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. [PMID:30020729]


description_brief: Sudden unexpected death in epilepsy
systematic_name: M46337
exact_source: HP:0033258
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033258
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. [https://orcid.org/0000-0002-1735-8178, https://orcid.org/0000-0002-9588-2944, PMID:22191982]


description_brief: Non-motor seizure
systematic_name: M41588
exact_source: HP:0033259
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033259
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. [PMID:2827606, PMID:28276060]


description_brief: Elevated urinary monocarboxylic acid level
systematic_name: M43542
exact_source: HP:0033303
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033303
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group. []


description_brief: Acute phase response
systematic_name: M41590
exact_source: HP:0033331
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033331
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing. [PMID:20034426, PMID:30137854]


description_brief: Psychic epileptic aura
systematic_name: M43543
exact_source: HP:0033346
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033346
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. []


description_brief: Epileptic aura
systematic_name: M41592
exact_source: HP:0033348
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033348
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. []


description_brief: Candida esophagitis
systematic_name: M48888
exact_source: HP:0033351
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033351
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. [PMID:30725953]


description_brief: Decreased compound muscle action potential amplitude
systematic_name: M46339
exact_source: HP:0033383
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033383
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. [PMID:15961865]


description_brief: Elevated urinary collagen degradation products
systematic_name: M48889
exact_source: HP:0033384
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033384
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. []


description_brief: Tissue ischemia
systematic_name: M48890
exact_source: HP:0033401
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033401
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. [PMID:10720362, PMID:26858079]


description_brief: Neuroinflammation
systematic_name: M41596
exact_source: HP:0033429
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033429
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain. []


description_brief: Livedo reticularis
systematic_name: M46340
exact_source: HP:0033505
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033505
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. []


description_brief: Cerebral cavernous malformation
systematic_name: M46341
exact_source: HP:0033522
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033522
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. [PMID:30909834]


description_brief: Abnormal sperm axoneme morphology
systematic_name: M46342
exact_source: HP:0033524
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033524
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. [PMID:31781811]


description_brief: Bronchial wall thickening
systematic_name: M46344
exact_source: HP:0033542
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033542
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. [https://orcid.org/0000-0002-4095-8489, PMID:10555672, PMID:928676]


description_brief: Abnormal ventricular axis
systematic_name: M47299
exact_source: HP:0033566
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033566
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization. [PMID:29262101]


description_brief: Glomerular subepithelial deposits
systematic_name: M46345
exact_source: HP:0033603
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033603
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). [PMID:30085237]


description_brief: Bone marrow maturation arrest
systematic_name: M46346
exact_source: HP:0033606
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033606
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. []


description_brief: Increased circulating very long-chain fatty acid concentration
systematic_name: M47300
exact_source: HP:0033643
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033643
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. [PMID:9345094]


description_brief: Acute coronary syndrome
systematic_name: M48891
exact_source: HP:0033678
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033678
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI). [PMID:19797781]


description_brief: Abnormal muscle fiber-type distribution
systematic_name: M43546
exact_source: HP:0033684
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033684
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types [PMID:27199166]


description_brief: Fiber type grouping
systematic_name: M46347
exact_source: HP:0033685
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033685
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. [PMID:32715519]


description_brief: Short term memory impairment
systematic_name: M43547
exact_source: HP:0033687
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033687
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds). [PMID:18394484, PMID:31424720]


description_brief: Pulmonary interstitial thickening
systematic_name: M43548
exact_source: HP:0033711
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033711
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening. []


description_brief: EEG with parietal epileptiform discharges
systematic_name: M45501
exact_source: HP:0033719
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033719
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Focal epileptiform EEG discharges recorded in the parietal region. [https://orcid.org/0000-0002-1735-8178]


description_brief: EEG with centrotemporal epileptiform discharges
systematic_name: M43550
exact_source: HP:0033721
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033721
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Focal epileptiform EEG discharges recorded in the centrotemporal region. [https://orcid.org/0000-0002-1735-8178]


description_brief: Thin corpus callosum
systematic_name: M48892
exact_source: HP:0033725
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033725
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). [https://orcid.org/0000-0002-1735-8178]


description_brief: Lupus nephritis
systematic_name: M48893
exact_source: HP:0033726
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033726
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. [https://orcid.org/0000-0002-2234-4248, PMID:31974366]


description_brief: Abnormal exteroceptive sensation
systematic_name: M43552
exact_source: HP:0033747
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033747
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. []


description_brief: Increased left ventricular end-diastolic volume
systematic_name: M47302
exact_source: HP:0033755
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033755
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). []


description_brief: Acral overgrowth
systematic_name: M46350
exact_source: HP:0033794
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033794
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement. [PMID:27477558, PMID:27812777, PMID:30853479]


description_brief: Blistering by anatomical location
systematic_name: M43557
exact_source: HP:0033800
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033800
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur. []


description_brief: Blistering by histological location
systematic_name: M47303
exact_source: HP:0033801
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033801
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa. [PMID:20055907]


description_brief: Intra-epidermal blistering
systematic_name: M47304
exact_source: HP:0033802
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033802
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. []


description_brief: Livedo
systematic_name: M46352
exact_source: HP:0033832
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033832
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. [PMID:17143977]


description_brief: Early satiety
systematic_name: M48896
exact_source: HP:0033842
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033842
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food. [PMID:21369493, PMID:27781342]


description_brief: Coldness
systematic_name: M48897
exact_source: HP:0033850
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033850
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. [PMID:16770929, PMID:32491414]


description_brief: Viral encephalitis
systematic_name: M43560
exact_source: HP:0033993
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0033993
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction. [PMID:21960712, PMID:30366550]


description_brief: Reduced progressive sperm motility
systematic_name: M46353
exact_source: HP:0034011
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034011
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion. [PMID:8957699]


description_brief: Abnormal circulating GABA concentration
systematic_name: M43561
exact_source: HP:0034025
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034025
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation. []


description_brief: Peripheral cyanosis
systematic_name: M43562
exact_source: HP:0034033
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034033
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved. [https://orcid.org/0000-0002-9578-0788, PMID:32644593]


description_brief: Angulated muscle fibers
systematic_name: M47305
exact_source: HP:0034045
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034045
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. [PMID:22938878, PMID:32529201]


description_brief: Fetal anomaly
systematic_name: M45502
exact_source: HP:0034057
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034057
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. []


description_brief: Abnormal circulating interleukin 10 concentration
systematic_name: M48898
exact_source: HP:0034162
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034162
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation. []


description_brief: Third trimester onset
systematic_name: M46354
exact_source: HP:0034197
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034197
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. []


description_brief: Second trimester onset
systematic_name: M46355
exact_source: HP:0034198
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034198
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). []


description_brief: Late first trimester onset
systematic_name: M47306
exact_source: HP:0034199
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034199
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). []


description_brief: Abnormal CSF homovanillic acid concentration
systematic_name: M46356
exact_source: HP:0034200
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034200
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. []


description_brief: Abnormal fetal central nervous system morphology
systematic_name: M46357
exact_source: HP:0034206
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034206
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


description_brief: Abnormal fetal gastrointestinal system morphology
systematic_name: M46358
exact_source: HP:0034207
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034207
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


description_brief: Abnormal temporal lobe morphology
systematic_name: M46359
exact_source: HP:0034221
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034221
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres. []


description_brief: Abnormal fetal genitourinary system morphology
systematic_name: M46363
exact_source: HP:0034242
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034242
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


description_brief: Abnormal fetal pulmonary morphology
systematic_name: M47307
exact_source: HP:0034243
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034243
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. []


description_brief: Abnormal corneal reflex
systematic_name: M46364
exact_source: HP:0034251
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034251
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea. [PMID:30480980]


description_brief: Gastrointestinal ulcer
systematic_name: M46366
exact_source: HP:0034274
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034274
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae. [PMID:16184417]


description_brief: Unusual virus reactivation
systematic_name: M47308
exact_source: HP:0034318
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034318
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host. [PMID:21799704]


description_brief: Inheritance qualifier
systematic_name: M46371
exact_source: HP:0034335
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034335
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed. []


description_brief: Splenic infarction
systematic_name: M48899
exact_source: HP:0034336
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034336
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion. [PMID:23281181, PMID:28613652]


description_brief: Claw hand deformity
systematic_name: M47310
exact_source: HP:0034337
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034337
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw. [PMID:29939558]


description_brief: Spherophakia
systematic_name: M48900
exact_source: HP:0034375
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034375
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical. []


description_brief: Elbow contracture
systematic_name: M46375
exact_source: HP:0034391
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034391
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. []


description_brief: Toe deformity
systematic_name: M46376
exact_source: HP:0034398
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034398
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes. [PMID:28461920]


description_brief: Abnormal gamma-glutamyltransferase level
systematic_name: M46377
exact_source: HP:0034444
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034444
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. []


description_brief: Shoulder contracture
systematic_name: M48904
exact_source: HP:0034665
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034665
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. [PMID:16214063, PMID:24975760, PMID:31282072]


description_brief: Knee contracture
systematic_name: M47315
exact_source: HP:0034671
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034671
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. [PMID:16214063, PMID:24975760, PMID:31282072]


description_brief: Toe joint contracture
systematic_name: M47318
exact_source: HP:0034675
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034675
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. [PMID:16214063, PMID:24975760, PMID:31282072]


description_brief: Abnormal leukocyte enzyme concentration or activity
systematic_name: M48906
exact_source: HP:0034858
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034858
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal. []


description_brief: Synkinesis
systematic_name: M48907
exact_source: HP:0034980
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0034980
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Unintentional movement in one area of the body produced during intentional movement of another area of the body. []


description_brief: Chromosome breakage
systematic_name: M38563
exact_source: HP:0040012
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040012
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. [https://orcid.org/0000-0002-0736-9199, PMID:12407692]


description_brief: Macular edema
systematic_name: M46380
exact_source: HP:0040049
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040049
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. [https://orcid.org/0000-0003-0986-4123]


description_brief: Abnormal morphology of ulna
systematic_name: M46382
exact_source: HP:0040071
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040071
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. []


description_brief: Happy demeanor
systematic_name: M38574
exact_source: HP:0040082
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040082
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation. []


description_brief: Abnormal circulating renin
systematic_name: M48909
exact_source: HP:0040084
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040084
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. [PMID:12949225]


description_brief: Abnormal Eustachian tube morphology
systematic_name: M38579
exact_source: HP:0040115
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040115
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders. [PMID:34383758]


description_brief: Abnormality of the acoustic reflex
systematic_name: M48910
exact_source: HP:0040121
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040121
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. []


description_brief: Abnormal circulating vitamin B12 concentration
systematic_name: M38580
exact_source: HP:0040126
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040126
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating ferritin concentration
systematic_name: M38586
exact_source: HP:0040133
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040133
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. [https://orcid.org/0000-0002-0736-9199, PMID:29723227]


description_brief: Abnormal transferrin saturation
systematic_name: M38588
exact_source: HP:0040135
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040135
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. [PMID:15083853]


description_brief: Cortical myoclonus
systematic_name: M41607
exact_source: HP:0040148
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040148
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). [PMID:21339907]


description_brief: Acne inversa
systematic_name: M38590
exact_source: HP:0040154
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040154
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. [https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx]


description_brief: Osteochondrosis
systematic_name: M38601
exact_source: HP:0040188
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040188
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. []


description_brief: Decreased head circumference
systematic_name: M46384
exact_source: HP:0040195
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040195
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. [PMID:26505062]


description_brief: Mild microcephaly
systematic_name: M38605
exact_source: HP:0040196
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040196
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). []


description_brief: Encephalomalacia
systematic_name: M38606
exact_source: HP:0040197
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040197
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. [https://orcid.org/0000-0002-0003-6754]


description_brief: Abnormal consumption behavior
systematic_name: M38608
exact_source: HP:0040202
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040202
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual. []


description_brief: Elevated hemoglobin A1c
systematic_name: M38612
exact_source: HP:0040217
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040217
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. [https://orcid.org/0000-0002-0736-9199, PMID:20042774]


description_brief: Reduced natural killer cell count
systematic_name: M41608
exact_source: HP:0040218
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040218
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor. [https://orcid.org/0000-0002-0736-9199, PMID:23993353]


description_brief: Pulmonary hemorrhage
systematic_name: M38613
exact_source: HP:0040223
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040223
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. [PMID:16473816]


description_brief: Abnormality of fibrinolysis
systematic_name: M48912
exact_source: HP:0040224
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040224
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) []


description_brief: Impaired neutrophil chemotaxis
systematic_name: M47327
exact_source: HP:0040238
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040238
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response []


description_brief: Impaired glucose tolerance
systematic_name: M38615
exact_source: HP:0040270
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040270
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. [https://orcid.org/0000-0002-0736-9199]


description_brief: Adenocarcinoma of the small intestine
systematic_name: M43568
exact_source: HP:0040274
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040274
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant epithelial tumor with a glandular organization that originates in the small intestine. []


description_brief: Nasogastric tube feeding
systematic_name: M38620
exact_source: HP:0040288
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040288
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. [PMID:25874832]


description_brief: Decreased circulating iron concentration
systematic_name: M38621
exact_source: HP:0040303
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040303
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of iron in the blood circulation is below the lower limit of normal. [PMID:36197985, PMID:36816471]


description_brief: Male sexual dysfunction
systematic_name: M38622
exact_source: HP:0040307
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040307
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity [PMID:29532805]


description_brief: Oligoarthritis
systematic_name: M43571
exact_source: HP:0040313
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040313
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of arthritis that affects up to four joints in the first six months of disease. [PMID:14760812]


description_brief: Blind vagina
systematic_name: M43572
exact_source: HP:0040314
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040314
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. [https://orcid.org/0000-0002-5316-1399, PMID:23730041, PMID:29768628]


description_brief: Abnormal morphology of the olfactory bulb
systematic_name: M41611
exact_source: HP:0040327
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0040327
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. [https://orcid.org/0000-0002-5316-1399]


description_brief: Neural tube defect
systematic_name: M47330
exact_source: HP:0045005
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045005
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. [https://orcid.org/0000-0002-0736-9199, PMID:19808787]


description_brief: Abnormal substantia nigra morphology
systematic_name: M38623
exact_source: HP:0045007
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045007
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. []


description_brief: Narrow palpebral fissure
systematic_name: M38628
exact_source: HP:0045025
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045025
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduction in the vertical distance between the upper and lower eyelids. [https://orcid.org/0000-0002-0736-9199]


description_brief: Microlissencephaly
systematic_name: M46385
exact_source: HP:0045028
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045028
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. [PMID:8779318]


description_brief: Abnormal circulating lactate dehydrogenase concentration
systematic_name: M38632
exact_source: HP:0045040
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045040
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. [PMID:25984930]


description_brief: Decreased circulating complement C4 concentration
systematic_name: M41612
exact_source: HP:0045042
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045042
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of the complement component C4 in the blood circulation below the lower limit of normal. [https://emedicine.medscape.com/article/135478-overview]


description_brief: HbS hemoglobin
systematic_name: M48915
exact_source: HP:0045047
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045047
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. [https://orcid.org/0000-0002-0736-9199, PMID:34406727, PMID:3953566]


description_brief: Decreased DLCO
systematic_name: M47331
exact_source: HP:0045051
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045051
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. [PMID:32310609]


description_brief: Tiger tail banding
systematic_name: M38634
exact_source: HP:0045055
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045055
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. [PMID:15692466]


description_brief: Hyperkeratotic papule
systematic_name: M43574
exact_source: HP:0045059
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045059
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). [PMID:3632007]


description_brief: Decreased proportion of CD3-positive T cells
systematic_name: M38640
exact_source: HP:0045080
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045080
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells. []


description_brief: Abnormality of body mass index
systematic_name: M38641
exact_source: HP:0045081
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045081
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages. []


description_brief: Decreased body mass index
systematic_name: M46386
exact_source: HP:0045082
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045082
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. []


description_brief: Knee joint hypermobility
systematic_name: M43575
exact_source: HP:0045086
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0045086
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). [https://orcid.org/0000-0002-6387-4317, PMID:28599980]


description_brief: Early onset of sexual maturation
systematic_name: M38645
exact_source: HP:0100000
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100000
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An early onset of puberty, in this case early does not refer to precocious. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neoplasm of the peripheral nervous system
systematic_name: M38647
exact_source: HP:0100007
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100007
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign or malignant neoplasm (tumor) of the peripheral nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Epiretinal membrane
systematic_name: M43576
exact_source: HP:0100014
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100014
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormal mesentery morphology
systematic_name: M46387
exact_source: HP:0100016
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100016
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). [https://orcid.org/0009-0006-4530-3154]


description_brief: Nuclear cataract
systematic_name: M38652
exact_source: HP:0100018
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100018
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. [https://orcid.org/0009-0006-4530-3154]


description_brief: Cortical cataract
systematic_name: M38653
exact_source: HP:0100019
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100019
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. [https://orcid.org/0009-0006-4530-3154]


description_brief: Cerebral palsy
systematic_name: M38654
exact_source: HP:0100021
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100021
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. [https://orcid.org/0009-0006-4530-3154]


description_brief: Recurrent hand flapping
systematic_name: M41616
exact_source: HP:0100023
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100023
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically. []


description_brief: Conspicuously happy disposition
systematic_name: M38655
exact_source: HP:0100024
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100024
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger. []


description_brief: Overfriendliness
systematic_name: M48916
exact_source: HP:0100025
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100025
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hypersociability that presents as mostly inappropriate friendliness towards others. [PMID:10953232]


description_brief: Arteriovenous malformation
systematic_name: M38657
exact_source: HP:0100026
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100026
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tics
systematic_name: M38660
exact_source: HP:0100033
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100033
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement. [PMID:20589866]


description_brief: Phonic tics
systematic_name: M46388
exact_source: HP:0100035
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100035
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome. [PMID:31651053]


description_brief: Abnormality of the pubic hair
systematic_name: M38662
exact_source: HP:0100133
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100133
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormality of the axillary hair
systematic_name: M38663
exact_source: HP:0100134
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100134
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. [https://orcid.org/0009-0006-4530-3154]


description_brief: Synostosis involving bones of the upper limbs
systematic_name: M38664
exact_source: HP:0100238
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100238
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal union between bones or parts of bones of the upper limbs. [https://orcid.org/0009-0006-4530-3154]


description_brief: Sarcoma
systematic_name: M38666
exact_source: HP:0100242
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100242
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [https://orcid.org/0009-0006-4530-3154]


description_brief: Leiomyosarcoma
systematic_name: M38667
exact_source: HP:0100243
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100243
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma. [https://orcid.org/0009-0006-4530-3154]


description_brief: Fibrosarcoma
systematic_name: M38668
exact_source: HP:0100244
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100244
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. [https://orcid.org/0009-0006-4530-3154]


description_brief: Desmoid tumors
systematic_name: M45507
exact_source: HP:0100245
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100245
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. [https://orcid.org/0009-0006-4530-3154]


description_brief: Senile plaques
systematic_name: M38670
exact_source: HP:0100256
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100256
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. [https://orcid.org/0009-0006-4530-3154]


description_brief: Ectrodactyly
systematic_name: M38671
exact_source: HP:0100257
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100257
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. [https://orcid.org/0009-0006-4530-3154]


description_brief: Preaxial polydactyly
systematic_name: M38672
exact_source: HP:0100258
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100258
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. [https://orcid.org/0000-0002-0736-9199]


description_brief: Postaxial polydactyly
systematic_name: M38673
exact_source: HP:0100259
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100259
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mesoaxial polydactyly
systematic_name: M38674
exact_source: HP:0100260
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100260
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. [PMID:19125433]


description_brief: Abnormal tendon morphology
systematic_name: M38675
exact_source: HP:0100261
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100261
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the structure or form of the tendons, also often called sinews. [https://orcid.org/0009-0006-4530-3154]


description_brief: Synostosis of carpals/tarsals
systematic_name: M38680
exact_source: HP:0100266
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100266
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. [https://orcid.org/0009-0006-4530-3154]


description_brief: Gustatory lacrimation
systematic_name: M48917
exact_source: HP:0100274
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100274
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. [https://orcid.org/0009-0006-4530-3154]


description_brief: Periauricular skin pits
systematic_name: M38685
exact_source: HP:0100277
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100277
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. [https://orcid.org/0009-0006-4530-3154]


description_brief: Ulcerative colitis
systematic_name: M38686
exact_source: HP:0100279
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100279
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. [https://orcid.org/0009-0006-4530-3154]


description_brief: Crohn's disease
systematic_name: M41617
exact_source: HP:0100280
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100280
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. [https://orcid.org/0009-0006-4530-3154]


description_brief: EMG: myotonic discharges
systematic_name: M46389
exact_source: HP:0100284
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100284
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. [https://orcid.org/0000-0002-0736-9199]


description_brief: EMG: impaired neuromuscular transmission
systematic_name: M38688
exact_source: HP:0100285
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100285
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). [https://orcid.org/0000-0002-0736-9199]


description_brief: EMG: slow motor conduction
systematic_name: M43579
exact_source: HP:0100287
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100287
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of reduced conduction velocity of motor nerves on electromyography. [https://orcid.org/0000-0002-0736-9199]


description_brief: Delayed somatosensory central conduction time
systematic_name: M48918
exact_source: HP:0100291
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100291
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT). [PMID:2446842]


description_brief: Increased endomysial connective tissue
systematic_name: M38690
exact_source: HP:0100297
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100297
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. [PMID:32508678]


description_brief: Muscle fiber tubular inclusions
systematic_name: M38692
exact_source: HP:0100301
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100301
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. [https://orcid.org/0009-0006-4530-3154, PMID:15113116]


description_brief: Muscle fiber cytoplasmatic inclusion bodies
systematic_name: M47336
exact_source: HP:0100303
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100303
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cerebral cortical hemiatrophy
systematic_name: M38693
exact_source: HP:0100308
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100308
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Subdural hemorrhage
systematic_name: M41618
exact_source: HP:0100309
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100309
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hemorrhage occurring between the dura mater and the arachnoid mater. [https://orcid.org/0009-0006-4530-3154]


description_brief: Cerebral inclusion bodies
systematic_name: M38694
exact_source: HP:0100314
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100314
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Juvenile aseptic necrosis
systematic_name: M38697
exact_source: HP:0100323
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100323
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. [https://orcid.org/0009-0006-4530-3154]


description_brief: Scleroderma
systematic_name: M38698
exact_source: HP:0100324
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100324
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. [https://orcid.org/0009-0006-4530-3154]


description_brief: Immunologic hypersensitivity
systematic_name: M38699
exact_source: HP:0100326
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100326
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. [https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf]


description_brief: Non-midline cleft of the upper lip
systematic_name: M38702
exact_source: HP:0100335
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100335
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bilateral cleft lip
systematic_name: M38703
exact_source: HP:0100336
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100336
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A non-midline cleft of the upper lip on the left and right sides. [https://orcid.org/0000-0002-0736-9199]


description_brief: Upper-limb joint contracture
systematic_name: M38705
exact_source: HP:0100360
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100360
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. []


description_brief: Abnormal mast cell morphology
systematic_name: M38709
exact_source: HP:0100494
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100494
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. [https://orcid.org/0009-0006-4530-3154]


description_brief: Reduced blood folate concentration
systematic_name: M46392
exact_source: HP:0100507
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100507
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced circulating concentration of folic acid, which is also known as vitamin B9. [https://orcid.org/0000-0002-0736-9199]


description_brief: Oliguria
systematic_name: M38719
exact_source: HP:0100520
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100520
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Low output of urine, clinically classified as an output below 300-500ml/day. [https://orcid.org/0009-0006-4530-3154]


description_brief: Thymoma
systematic_name: M48919
exact_source: HP:0100522
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100522
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor originating from the epithelial cells of the thymus. [https://orcid.org/0009-0006-4530-3154]


description_brief: Liver abscess
systematic_name: M38721
exact_source: HP:0100523
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100523
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A circumscribed area of pus or necrotic debris in the liver. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal blood phosphate concentration
systematic_name: M38722
exact_source: HP:0100529
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100529
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of phosphate homeostasis or concentration in the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating calcium-phosphate regulating hormone concentration
systematic_name: M38723
exact_source: HP:0100530
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100530
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. []


description_brief: Inflammatory abnormality of the eye
systematic_name: M38724
exact_source: HP:0100533
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100533
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the eye, parts of the eye or the periorbital region. [https://orcid.org/0009-0006-4530-3154]


description_brief: Episcleritis
systematic_name: M38725
exact_source: HP:0100534
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100534
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the supraorbital ridges
systematic_name: M38726
exact_source: HP:0100538
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100538
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the supraorbital portion of the frontal bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Periorbital edema
systematic_name: M43581
exact_source: HP:0100539
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100539
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Edema affecting the region situated around the orbit of the eye. [https://orcid.org/0000-0002-0736-9199]


description_brief: Femoral hernia
systematic_name: M38728
exact_source: HP:0100541
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100541
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. [https://orcid.org/0009-0006-4530-3154]


description_brief: Arterial stenosis
systematic_name: M38732
exact_source: HP:0100545
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100545
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Narrowing or constriction of the inner surface (lumen) of an artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Exstrophy
systematic_name: M48921
exact_source: HP:0100548
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100548
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. [https://orcid.org/0000-0002-0736-9199]


description_brief: Asymmetric growth
systematic_name: M38736
exact_source: HP:0100555
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100555
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A growth pattern that displays an abnormal difference between the left and the right side. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lower limb asymmetry
systematic_name: M38738
exact_source: HP:0100559
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100559
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A difference in length or diameter between the left and right leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Upper limb asymmetry
systematic_name: M38739
exact_source: HP:0100560
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100560
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Difference in length or size between the right and left arm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neoplasm of the endocrine system
systematic_name: M38741
exact_source: HP:0100568
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100568
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor (abnormal growth of tissue) of the endocrine system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormally ossified vertebrae
systematic_name: M38742
exact_source: HP:0100569
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100569
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the formation and mineralization of one or more vertebrae. [https://orcid.org/0000-0002-0736-9199]


description_brief: Carcinoid tumor
systematic_name: M38743
exact_source: HP:0100570
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100570
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. [https://orcid.org/0009-0006-4530-3154]


description_brief: Cardiac diverticulum
systematic_name: M38744
exact_source: HP:0100571
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100571
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. [https://orcid.org/0009-0006-4530-3154]


description_brief: Amaurosis fugax
systematic_name: M38747
exact_source: HP:0100576
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100576
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. [https://orcid.org/0009-0006-4530-3154]


description_brief: Mucosal telangiectasiae
systematic_name: M38749
exact_source: HP:0100579
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100579
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. [https://orcid.org/0009-0006-4530-3154]


description_brief: Barrett esophagus
systematic_name: M38750
exact_source: HP:0100580
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100580
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. [https://orcid.org/0009-0006-4530-3154]


description_brief: Endocarditis
systematic_name: M38751
exact_source: HP:0100584
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100584
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. [https://orcid.org/0009-0006-4530-3154]


description_brief: Telangiectasia of the skin
systematic_name: M38752
exact_source: HP:0100585
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100585
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. [https://orcid.org/0000-0002-0736-9199]


description_brief: Urogenital fistula
systematic_name: M38754
exact_source: HP:0100589
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100589
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a fistula affecting the genitourinary system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Eclampsia
systematic_name: M48922
exact_source: HP:0100601
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100601
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. [https://orcid.org/0009-0006-4530-3154]


description_brief: Toxemia of pregnancy
systematic_name: M48923
exact_source: HP:0100603
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100603
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. [https://orcid.org/0009-0006-4530-3154]


description_brief: Neoplasm of the respiratory system
systematic_name: M38762
exact_source: HP:0100606
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100606
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor (abnormal growth of tissue) of the respiratory system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Multiple glomerular cysts
systematic_name: M38765
exact_source: HP:0100611
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100611
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:20091054, PMID:20367310]


description_brief: Myositis
systematic_name: M38768
exact_source: HP:0100614
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100614
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A general term for inflammation of the muscles without respect to the underlying cause. [https://orcid.org/0009-0006-4530-3154]


description_brief: Sertoli cell neoplasm
systematic_name: M46396
exact_source: HP:0100619
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100619
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a neoplasm of the testis with origin in a Sertoli cell. [https://orcid.org/0000-0002-0736-9199]


description_brief: Germinoma
systematic_name: M38771
exact_source: HP:0100620
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100620
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of undifferentiated germ cell tumor that may be benign or malignant. [https://orcid.org/0009-0006-4530-3154]


description_brief: Dysgerminoma
systematic_name: M38772
exact_source: HP:0100621
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100621
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. [https://orcid.org/0009-0006-4530-3154]


description_brief: Displacement of the urethral meatus
systematic_name: M47337
exact_source: HP:0100627
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100627
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). [https://orcid.org/0009-0006-4530-3154]


description_brief: Erectile dysfunction
systematic_name: M43583
exact_source: HP:0100639
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100639
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. [PMID:27188339]


description_brief: Graves disease
systematic_name: M38783
exact_source: HP:0100647
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100647
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. [https://orcid.org/0009-0006-4530-3154]


description_brief: Type I diabetes mellitus
systematic_name: M38787
exact_source: HP:0100651
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100651
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retrobulbar optic neuritis
systematic_name: M46398
exact_source: HP:0100654
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100654
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. [https://orcid.org/0009-0006-4530-3154]


description_brief: Dyskinesia
systematic_name: M38791
exact_source: HP:0100660
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100660
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. [https://orcid.org/0009-0006-4530-3154]


description_brief: Angioedema
systematic_name: M38793
exact_source: HP:0100665
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100665
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormal pigmentation of the oral mucosa
systematic_name: M41622
exact_source: HP:0100669
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100669
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the pigmentation of the mucosa of the mouth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Premature skin wrinkling
systematic_name: M38796
exact_source: HP:0100678
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100678
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal Sharpey fiber morphology
systematic_name: M38798
exact_source: HP:0100685
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100685
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Iridodonesis
systematic_name: M38801
exact_source: HP:0100693
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100693
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. [https://orcid.org/0009-0006-4530-3154]


description_brief: Tibial torsion
systematic_name: M38802
exact_source: HP:0100694
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100694
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Twisted position of the tibia (shin bone) associated with pathological rotation of the leg. [https://orcid.org/0009-0006-4530-3154]


description_brief: Scarring
systematic_name: M38803
exact_source: HP:0100699
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100699
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. []


description_brief: Tongue thrusting
systematic_name: M41623
exact_source: HP:0100703
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100703
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns [PMID:34413610]


description_brief: Cerebral visual impairment
systematic_name: M38805
exact_source: HP:0100704
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100704
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. [https://orcid.org/0000-0002-0736-9199, PMID:28082927]


description_brief: Impulsivity
systematic_name: M46399
exact_source: HP:0100710
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100710
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress. []


description_brief: Mediastinal lymphadenopathy
systematic_name: M38812
exact_source: HP:0100721
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100721
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypercoagulability
systematic_name: M38814
exact_source: HP:0100724
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100724
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of coagulation associated with an increased risk of thrombosis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lichenification
systematic_name: M38815
exact_source: HP:0100725
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100725
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neoplasm of the parathyroid gland
systematic_name: M38819
exact_source: HP:0100733
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100733
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor (abnormal growth of tissue) of the parathyroid gland. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal eating behavior
systematic_name: M38822
exact_source: HP:0100738
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100738
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption. []


description_brief: Bulimia
systematic_name: M43585
exact_source: HP:0100739
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100739
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). [https://orcid.org/0000-0002-0736-9199, PMID:23346610]


description_brief: Vascular neoplasm
systematic_name: M38823
exact_source: HP:0100742
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100742
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign or malignant neoplasm (tumor) originating in the vascular system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chest pain
systematic_name: M38826
exact_source: HP:0100749
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100749
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. []


description_brief: Atelectasis
systematic_name: M38827
exact_source: HP:0100750
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100750
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Collapse of part of a lung associated with absence of inflation (air) of that part. [https://orcid.org/0000-0002-0736-9199]


description_brief: Schizophrenia
systematic_name: M38829
exact_source: HP:0100753
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100753
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. []


description_brief: Gangrene
systematic_name: M38832
exact_source: HP:0100758
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100758
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). [ISBN:9780781770873]


description_brief: Clubbing of fingers
systematic_name: M38833
exact_source: HP:0100759
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100759
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Terminal broadening of the fingers (distal phalanges of the fingers). [https://orcid.org/0009-0006-4530-3154]


description_brief: Clubbing of toes
systematic_name: M38834
exact_source: HP:0100760
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100760
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Terminal broadening of the toes (distal phalanges of the toes). [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormality of the lymphatic system
systematic_name: M38835
exact_source: HP:0100763
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100763
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lymphangioma
systematic_name: M38836
exact_source: HP:0100764
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100764
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. [https://orcid.org/0000-0002-0736-9199, PMID:12376602]


description_brief: Abnormal lymphatic vessel morphology
systematic_name: M38838
exact_source: HP:0100766
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100766
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly of the vessel that contains or conveys lymph fluid. [https://en.wikipedia.org/wiki/Lymphatic_vessel]


description_brief: Abnormal placenta morphology
systematic_name: M38839
exact_source: HP:0100767
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100767
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. [https://orcid.org/0000-0002-0736-9199]


description_brief: Choriocarcinoma
systematic_name: M43586
exact_source: HP:0100768
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100768
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. [https://orcid.org/0009-0006-4530-3154]


description_brief: Recurrent pharyngitis
systematic_name: M38843
exact_source: HP:0100776
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100776
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Exostoses
systematic_name: M38844
exact_source: HP:0100777
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100777
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. [https://orcid.org/0000-0002-0736-9199]


description_brief: Urogenital sinus anomaly
systematic_name: M38845
exact_source: HP:0100779
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100779
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A rare birth defect in women where the urethra and vagina both open into a common channel. [https://orcid.org/0000-0002-0736-9199]


description_brief: Conjunctival hamartoma
systematic_name: M38846
exact_source: HP:0100780
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100780
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal sacroiliac joint morphology
systematic_name: M38847
exact_source: HP:0100781
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100781
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). [https://orcid.org/0000-0002-0736-9199, PMID:16700283]


description_brief: Hypersomnia
systematic_name: M38850
exact_source: HP:0100786
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100786
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Excessive sleepiness or feeling of sleepiness, or difficulty staying awake despite having had adequate sleep, which persists over several days. [PMID:32901432]


description_brief: Acantholysis
systematic_name: M38853
exact_source: HP:0100792
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100792
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormality of the periungual region
systematic_name: M38858
exact_source: HP:0100803
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100803
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the region around the nails of the fingers or toes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Long fingers
systematic_name: M38860
exact_source: HP:0100807
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100807
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. [PMID:19125433]


description_brief: Blue nevus
systematic_name: M41628
exact_source: HP:0100814
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100814
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. []


description_brief: Renovascular hypertension
systematic_name: M38862
exact_source: HP:0100817
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100817
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of hypertension related to stenosis of the renal artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intestinal fistula
systematic_name: M38864
exact_source: HP:0100819
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100819
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Glomerulopathy
systematic_name: M38865
exact_source: HP:0100820
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100820
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. [https://orcid.org/0009-0006-4530-3154]


description_brief: Lymphocytosis
systematic_name: M38868
exact_source: HP:0100827
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100827
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increase in the number or proportion of lymphocytes in the blood. [https://orcid.org/0009-0006-4530-3154]


description_brief: Galactorrhea
systematic_name: M38869
exact_source: HP:0100829
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100829
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormality of vitamin K metabolism
systematic_name: M48927
exact_source: HP:0100831
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100831
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vitreous floaters
systematic_name: M43587
exact_source: HP:0100832
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100832
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. [https://orcid.org/0009-0006-4530-3154]


description_brief: Malignant neoplasm of the central nervous system
systematic_name: M38875
exact_source: HP:0100836
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100836
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent cutaneous abscess formation
systematic_name: M38876
exact_source: HP:0100838
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100838
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. [https://orcid.org/0000-0002-0736-9199]


description_brief: Septo-optic dysplasia
systematic_name: M38878
exact_source: HP:0100842
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100842
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the optic nerve and absence of the septum pellucidum. [https://orcid.org/0009-0006-4530-3154]


description_brief: Anaphylactic shock
systematic_name: M48928
exact_source: HP:0100845
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100845
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An acute hypersensitivity reaction due to exposure to a previously encountered antigen. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neoplasm of the male external genitalia
systematic_name: M38880
exact_source: HP:0100848
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100848
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor (abnormal growth of tissue) of the male external genitalia. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormal fear-induced behavior
systematic_name: M38882
exact_source: HP:0100852
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100852
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations. []


description_brief: Broad ischia
systematic_name: M46403
exact_source: HP:0100865
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100865
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased width of the ischium, which forms the lower and back part of the hip bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal palm morphology
systematic_name: M38886
exact_source: HP:0100871
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100871
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the palm, that is, of the front of the hand. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the plantar skin of foot
systematic_name: M38887
exact_source: HP:0100872
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100872
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the plantar part of foot, that is of the soles of the feet. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thick hair
systematic_name: M38888
exact_source: HP:0100874
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100874
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased density of hairs, i.e., and elevated number of hairs per unit area. [https://orcid.org/0000-0002-0736-9199]


description_brief: Infra-orbital crease
systematic_name: M46404
exact_source: HP:0100876
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100876
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. [PMID:19125427]


description_brief: Abnormality of globe location
systematic_name: M38890
exact_source: HP:0100886
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100886
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in the placement of the ocular globe (eyeball). [https://orcid.org/0009-0006-4530-3154]


description_brief: Rectal polyposis
systematic_name: M38892
exact_source: HP:0100896
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100896
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of multiple rectal hyperplastic/adenomatous polyps. [https://orcid.org/0000-0002-0736-9199]


description_brief: Connective tissue nevi
systematic_name: M38893
exact_source: HP:0100898
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100898
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. [https://orcid.org/0009-0006-4530-3154]


description_brief: Sclerosis of finger phalanx
systematic_name: M38894
exact_source: HP:0100899
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100899
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal renal medulla morphology
systematic_name: M38895
exact_source: HP:0100957
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100957
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural abnormality of the medulla of the kidney. [https://orcid.org/0000-0002-0736-9199, PMID:22343825]


description_brief: Narrow foramen obturatorium
systematic_name: M38896
exact_source: HP:0100958
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100958
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Excessive shyness
systematic_name: M38897
exact_source: HP:0100962
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100962
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others. []


description_brief: Hyperesthesia
systematic_name: M38898
exact_source: HP:0100963
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0100963
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. [PMID:33085272]


description_brief: Abnormal size of the palpebral fissures
systematic_name: M38900
exact_source: HP:0200007
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200007
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. [https://orcid.org/0009-0006-4530-3154]


description_brief: Corneal erosion
systematic_name: M38902
exact_source: HP:0200020
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200020
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An erosion or abrasion of the cornea's outermost layer of epithelial cells. [https://orcid.org/0009-0006-4530-3154]


description_brief: Ocular pain
systematic_name: M38904
exact_source: HP:0200026
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200026
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. []


description_brief: Papule
systematic_name: M38905
exact_source: HP:0200034
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200034
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. [https://orcid.org/0000-0002-5316-1399]


description_brief: Skin plaque
systematic_name: M38906
exact_source: HP:0200035
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200035
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. [https://orcid.org/0000-0002-5316-1399]


description_brief: Skin nodule
systematic_name: M38907
exact_source: HP:0200036
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200036
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. [https://orcid.org/0000-0002-5316-1399]


description_brief: Skin vesicle
systematic_name: M38908
exact_source: HP:0200037
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200037
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. [https://orcid.org/0000-0002-5316-1399]


description_brief: Pustule
systematic_name: M38909
exact_source: HP:0200039
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200039
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. [https://orcid.org/0000-0002-5316-1399]


description_brief: Epidermoid cyst
systematic_name: M38910
exact_source: HP:0200040
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200040
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. [https://orcid.org/0000-0002-5316-1399]


description_brief: Skin erosion
systematic_name: M38911
exact_source: HP:0200041
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200041
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. [https://orcid.org/0000-0002-5316-1399]


description_brief: Skin ulcer
systematic_name: M38912
exact_source: HP:0200042
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200042
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. [https://orcid.org/0000-0002-5316-1399]


description_brief: Verrucae
systematic_name: M38913
exact_source: HP:0200043
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200043
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. [https://orcid.org/0000-0002-5316-1399]


description_brief: Porokeratosis
systematic_name: M38914
exact_source: HP:0200044
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200044
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. [https://orcid.org/0000-0002-5316-1399]


description_brief: Upper limb hypertonia
systematic_name: M41632
exact_source: HP:0200049
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200049
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased muscle tone observed in the arms of the affected person. [https://orcid.org/0000-0002-6670-9157, PMID:21642056]


description_brief: Colorectal polyposis
systematic_name: M38918
exact_source: HP:0200063
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200063
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. []


description_brief: Recurrent spontaneous abortion
systematic_name: M48930
exact_source: HP:0200067
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200067
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. [https://orcid.org/0000-0002-0736-9199]


description_brief: Giant cell hepatitis
systematic_name: M45508
exact_source: HP:0200084
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200084
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. [PMID:27746622]


description_brief: Metabolic alkalosis
systematic_name: M38928
exact_source: HP:0200114
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200114
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. [PMID:29493916]


description_brief: Recurrent upper and lower respiratory tract infections
systematic_name: M38929
exact_source: HP:0200117
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200117
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections. []


description_brief: Chronic hepatitis due to cryptosporidium infection
systematic_name: M38932
exact_source: HP:0200124
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200124
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. [PMID:23440042]


description_brief: Epileptic encephalopathy
systematic_name: M38935
exact_source: HP:0200134
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0200134
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. [PMID:21590624, PMID:23213494]


description_brief: Tall chin
systematic_name: M41634
exact_source: HP:0400000
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0400000
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. [eom:96d8ca16a3c80216, PMID:19125436]


description_brief: Long ear
systematic_name: M43590
exact_source: HP:0400004
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0400004
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. [eom:2028381d5c61842a, PMID:19152421]


description_brief: Abnormality of the peripheral nervous system
systematic_name: M38941
exact_source: HP:0410008
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410008
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. [https://orcid.org/0000-0001-5889-4463]


description_brief: Recurrent ear infections
systematic_name: M38942
exact_source: HP:0410018
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410018
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. [https://orcid.org/0000-0001-5208-3432]


description_brief: Epigastric pain
systematic_name: M38943
exact_source: HP:0410019
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410019
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pain that is localized to the region of the upper abdomen immediately below the ribs. [https://orcid.org/0000-0001-5208-3432, https://www.healthgrades.com/symptoms/epigastric-pain]


description_brief: Abnormal T cell activation
systematic_name: M48931
exact_source: HP:0410035
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410035
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. []


description_brief: Abnormal liver morphology
systematic_name: M38946
exact_source: HP:0410042
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410042
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. [MP:0000598]


description_brief: Eosinophilic infiltration of the esophagus
systematic_name: M46409
exact_source: HP:0410151
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410151
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. [PMID:27158535]


description_brief: Hyperketonemia
systematic_name: M41638
exact_source: HP:0410175
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410175
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. [PMID:27036365]


description_brief: Chronic neutropenia
systematic_name: M41639
exact_source: HP:0410252
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410252
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. [PMID:23953336]


description_brief: Transient neutropenia
systematic_name: M41640
exact_source: HP:0410255
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410255
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity. [PMID:23953336]


description_brief: Abnormal circulating amylase concentration
systematic_name: M41641
exact_source: HP:0410282
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410282
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. [NCIT:C16284]


description_brief: Hypoamylasemia
systematic_name: M43591
exact_source: HP:0410289
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410289
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. []


description_brief: Abnormal isohemagglutinin level
systematic_name: M46410
exact_source: HP:0410292
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410292
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). []


description_brief: Decreased specific antibody response to protein vaccine
systematic_name: M43592
exact_source: HP:0410294
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410294
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]


description_brief: Complete or near-complete absence of specific antibody response to tetanus vaccine
systematic_name: M46411
exact_source: HP:0410295
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410295
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. []


description_brief: Partial absence of specific antibody response to tetanus vaccine
systematic_name: M46412
exact_source: HP:0410297
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410297
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. []


description_brief: Decreased specific antibody response to polysaccharide vaccine
systematic_name: M43593
exact_source: HP:0410299
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410299
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]


systematic_name: M47341
exact_source: HP:0410300
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410300
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_brief:
  Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine

description_full:
  The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. []


description_brief: Partial absence of specific antibody response to unconjugated pneumococcus vaccine
systematic_name: M43594
exact_source: HP:0410301
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410301
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. []


description_brief: Decreased specific antibody response to protein-conjugated polysaccharide vaccine
systematic_name: M48932
exact_source: HP:0410302
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0410302
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. [PMID:26018535]


description_brief: Hyperplasia of the maxilla
systematic_name: M41643
exact_source: HP:0430028
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0430028
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. []


description_brief: Small joint hypermobilty
systematic_name: M48933
exact_source: HP:0430046
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0430046
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, \nsecond to fifth metatarsophalangeal joints, and wrists. []


description_brief: Large joint hypermobilty
systematic_name: M48934
exact_source: HP:0430047
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0430047
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles. []


description_brief: Anti-thyroid antibody positivity
systematic_name: M48935
exact_source: HP:0430050
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0430050
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid. []


description_brief: Abnormal circulating organic compound concentration
systematic_name: M48936
exact_source: HP:0430071
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0430071
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom. []


description_brief: Abnormal brain-evoked potentials
systematic_name: M48937
exact_source: HP:0430106
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0430106
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units. [PMID:22995526]


description_brief: Moon facies
systematic_name: M45509
exact_source: HP:0500011
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0500011
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal cardiac biomarker test
systematic_name: M46414
exact_source: HP:0500020
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0500020
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers]


description_brief: Abnormal circulating dehydroepiandrosterone concentration
systematic_name: M43596
exact_source: HP:0500022
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0500022
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of dehydroepiandrosterone in the circulation. [PMID:27979632]


description_brief: Myopic astigmatism
systematic_name: M46415
exact_source: HP:0500041
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0500041
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. [https://www.aoa.org/]


description_brief: Retinopathy of prematurity
systematic_name: M48940
exact_source: HP:0500049
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0500049
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. [ISBN:978-3-319-52190-9, PMID:16009843]


description_brief: Food allergy
systematic_name: M38962
exact_source: HP:0500093
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0500093
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. [PMID:27069254, PMID:27069841]


description_brief: Abnormal CSF pyruvate family amino acid concentration
systematic_name: M41646
exact_source: HP:0500231
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0500231
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. []


description_brief: Abnormal proportion of CD4-positive helper T cells
systematic_name: M48942
exact_source: HP:0500267
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0500267
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. []


description_brief: Abnormal frontalis muscle physiology
systematic_name: M48943
exact_source: HP:3000004
external_details_URL: https://hpo.jax.org/app/browse/term/HP:3000004
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. [PMID:32491684]


description_brief: Abnormal head blood vessel morphology
systematic_name: M38967
exact_source: HP:3000036
external_details_URL: https://hpo.jax.org/app/browse/term/HP:3000036
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. [https://orcid.org/0000-0001-5889-4463]


description_brief: Involuntary vocalization
systematic_name: M48944
exact_source: HP:4000074
external_details_URL: https://hpo.jax.org/app/browse/term/HP:4000074
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others. [PMID:31651053]


description_brief: Abnormal enzyme activity in cultured fibroblasts
systematic_name: M48945
exact_source: HP:4000195
external_details_URL: https://hpo.jax.org/app/browse/term/HP:4000195
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts. []


description_brief: Abnormal peer relationships
systematic_name: M48947
exact_source: HP:5200016
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200016
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends. []


description_brief: Abnormal relationship
systematic_name: M47355
exact_source: HP:5200024
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200024
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context. []


description_brief: Reduced attention regulation
systematic_name: M47357
exact_source: HP:5200044
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200044
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention. []


description_brief: Sensory behavioral abnormality
systematic_name: M47359
exact_source: HP:5200046
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200046
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli. []


description_brief: Disturbed perception with a stimulus
systematic_name: M48949
exact_source: HP:5200204
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200204
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli. []


description_brief: Recurrent maladaptive behavior
systematic_name: M48950
exact_source: HP:5200241
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200241
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions. []


description_brief: Abnormal thought pattern
systematic_name: M48953
exact_source: HP:5200269
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200269
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal thought pattern refers to thoughts or patterns of thinking that are intrusive, obsessive, or challenging to control. []


description_brief: Sleep-related breathing disorders
systematic_name: M48954
exact_source: HP:5200283
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200283
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea. [PMID:29779616, PMID:34191224]


description_brief: Disturbance during transitions between sleep and wake states
systematic_name: M48955
exact_source: HP:5200293
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200293
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A group of parasomnias that occur during the transition from wakefulness to sleep or from one sleep stage to another. Rhythmic Movement Disorder, Sleep Starts, Sleep Talking, and Nocturnal Leg Cramps - these four disorders belong to Sleep-Wake Transition Disorders in the International Classification of Sleep Disorders. [PMID:30252388]


description_brief: Abnormal judgment
systematic_name: M48957
exact_source: HP:5200401
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200401
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation. []


description_brief: Abnormal experience of reality
systematic_name: M48958
exact_source: HP:5200423
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200423
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences. []


description_brief: Abnormal psychotic pattern
systematic_name: M48959
exact_source: HP:5200430
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5200430
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. []


description_brief: Submucous cleft palate
systematic_name: M48960
exact_source: HP:5201016
external_details_URL: https://hpo.jax.org/app/browse/term/HP:5201016
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cleft of the muscular portion of the palate that is covered by mucous membrane. [https://orcid.org/0000-0002-4142-7153, PMID:21112097]


description_brief: Abnormal tissue enzyme concentration or activity
systematic_name: M48961
exact_source: HP:6000231
external_details_URL: https://hpo.jax.org/app/browse/term/HP:6000231
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood. []


description_brief: Abnormal urinary organic compound level
systematic_name: M48962
exact_source: HP:6000531
external_details_URL: https://hpo.jax.org/app/browse/term/HP:6000531
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includea alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters. []


description_brief: Abnormal circulating atrial natriuretic peptide pro-hormone concentration
systematic_name: M48963
exact_source: HP:6000692
external_details_URL: https://hpo.jax.org/app/browse/term/HP:6000692
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal. []


systematic_name: M48964
exact_source: Supplemental Table 3. The Beta_i values for all the 22 genes. Related to Figure 5.
external_details_URL: https://www.cell.com/iscience/fulltext/S2589-0042(24)00498-X
source_species_code: HS
contributor: Anthony Castanza
contrib_organization: MSigDB Team
description_brief:
  This gene set comprises a 22-gene signature derived from tissue-resident memory T cells (TRM) specifically associated with improved prognosis in melanoma patients. Enrichment of this signature in the tumor immune microenvironment (TIME) correlates with heightened immune activation, particularly involving T cells, NK cells, and M1 macrophages. High TRM infiltration is linked with longer overall survival and a more robust immune response. This signature enables stratification of melanoma patients into low- and high-risk categories, providing significant prognostic insights and aiding in the prediction of patient outcomes.

description_full:
  Tissue-resident memory T cells (TRM) are a specialized T cell population residing in peripheral tissues. The presence and potential impact of TRM in the tumor immune microenvironment (TIME) remain to be elucidated. Here, we systematically investigated the relationship between TRM and melanoma TIME based on multiple clinical single-cell RNA-seq datasets and developed signatures indicative of TRM infiltration. TRM infiltration is associated with longer overall survival and abundance of T cells, NK cells, M1 macrophages, and memory B cells in the TIME. A 22-gene TRM derived risk score was further developed to effectively classify patients into low- and high-risk categories, distinguishing overall survival and immune activation, particularly in T cell-mediated responses. Altogether, our analysis suggests that TRM abundance is associated with melanoma TIME activation and patient survival, and the TRM-based machine learning model can potentially predict prognosis in melanoma patients.


systematic_name: M48965
external_details_URL: https://www.cell.com/iscience/fulltext/S2589-0042(24)00498-X
source_species_code: HS
contributor: Anthony Castanza
contrib_organization: MSigDB Team
description_full:
  Tissue-resident memory T cells (TRM) are a specialized T cell population residing in peripheral tissues. The presence and potential impact of TRM in the tumor immune microenvironment (TIME) remain to be elucidated. Here, we systematically investigated the relationship between TRM and melanoma TIME based on multiple clinical single-cell RNA-seq datasets and developed signatures indicative of TRM infiltration. TRM infiltration is associated with longer overall survival and abundance of T cells, NK cells, M1 macrophages, and memory B cells in the TIME. A 22-gene TRM derived risk score was further developed to effectively classify patients into low- and high-risk categories, distinguishing overall survival and immune activation, particularly in T cell-mediated responses. Altogether, our analysis suggests that TRM abundance is associated with melanoma TIME activation and patient survival, and the TRM-based machine learning model can potentially predict prognosis in melanoma patients.

exact_source:
  Supplemental Table 1. Tissue resident memory T cells cluster-specific maker gene sets. Related to Figure 2.


description_brief: Pathway Definition from KEGG: (OCLN,CLDN) == TJP1 == CTTN == ARP2/3 == (ACTB,ACTG1)
systematic_name: M47769
exact_source: N01287
external_details_URL: https://www.kegg.jp/entry/N01287
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Tight junction-Actin signaling pathway. Pathway ID: N01287. Pathway type: Reference. Pathway class: nt06135 Cytoskeletal regulation (viruses and bacteria).


systematic_name: M47820
exact_source: N01421
external_details_URL: https://www.kegg.jp/entry/N01421
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: [IMP,GMP] -- NT >> (PNP,LACC1) -> [Hypoxanthine,Guanine] -- HPRT1 -> [IMP,GMP]

description_full:
  Purine salvage pathway, hypoxanthine/guanine to IMP/GMP. Pathway ID: N01421. Pathway type: Reference. Pathway class: nt06027 Purine salvage pathway.


description_brief: Pathway Definition from KEGG: AMP -- NT >> (PNP,LACC1) -> Adenine -- APRT -> AMP
systematic_name: M47819
exact_source: N01418
external_details_URL: https://www.kegg.jp/entry/N01418
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Purine salvage pathway, adenine to AMP. Pathway ID: N01418. Pathway type: Reference. Pathway class: nt06027 Purine salvage pathway.


description_brief: Pathway Definition from KEGG: SEC12 -> SAR1 == (SEC23+SEC24) == (SEC13+SEC31)
systematic_name: M47770
exact_source: N01289
external_details_URL: https://www.kegg.jp/entry/N01289
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  COPII vesicle formation. Pathway ID: N01289. Pathway type: Reference. Pathway class: nt06125 Membrane trafficking (bacteria).


description_brief: Pathway Definition from KEGG: vCyclin -> CDK4/6 -> RB1 // E2F
systematic_name: M47461
exact_source: N00168
external_details_URL: https://www.kegg.jp/entry/N00168
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  KSHV vCyclin to cell cycle G1/S. Pathway ID: N00168. Pathway type: Pathogen. Pathway class: nt06230 Cell cycle.


description_brief: Pathway Definition from KEGG: (Core+PSME3) -> (RXRA+NR1H3) => (CCND1,CDK4,MYC)
systematic_name: M47590
exact_source: N00530
external_details_URL: https://www.kegg.jp/entry/N00530
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  HCV core to RXRA/LXRA-mediated transcription. Pathway ID: N00530. Pathway type: Pathogen. Pathway class: nt06263 Hepatocellular carcinoma.


description_brief: Pathway Definition from KEGG: Fe2+ -> CDK5 -> MAPT -| (TUBA+TUBB)
systematic_name: M47818
exact_source: N01414
external_details_URL: https://www.kegg.jp/entry/N01414
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Iron to anterograde axonal transport. Pathway ID: N01414. Pathway type: Env factor. Pathway class: nt06460 Alzheimer disease.


description_brief: Pathway Definition from KEGG: TAX -| CDKN1A -| (CDK2+CCNE) -> RB1 // E2F
systematic_name: M47585
exact_source: N00498
external_details_URL: https://www.kegg.jp/entry/N00498
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  HTLV-1 Tax to p21-cell cycle G1/S. Pathway ID: N00498. Pathway type: Pathogen. Pathway class: nt06160 Human T-cell leukemia virus 1 (HTLV-1).


description_brief: Pathway Definition from KEGG: IGG -> FCGR -> CRK -> DOCK1 -> RAC
systematic_name: M47727
exact_source: N01090
external_details_URL: https://www.kegg.jp/entry/N01090
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  IGG-FCGR-RAC signaling pathway. Pathway ID: N01090. Pathway type: Reference. Pathway class: nt06135 Cytoskeletal regulation (viruses and bacteria).


systematic_name: M47971
exact_source: N01695
external_details_URL: https://www.kegg.jp/entry/N01695
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: IGH -> (LYN,SYK) -> (PIK3AP1,(CD19+CD21+CD81+IFITM1)) -> PI3Kdelta -> PIP3 -> AKT

description_full:
  BCR-BCAP/CD19-PI3K signaling pathway. Pathway ID: N01695. Pathway type: Reference. Pathway class: nt06530 PI3K signaling.


description_brief: Pathway Definition from KEGG: IGH -> (LYN,SYK) -> (BTK,BLNK) -> PLCG2 -> IP3 -> ITPR -> Ca2+(cyto)
systematic_name: M47852
exact_source: N01463
external_details_URL: https://www.kegg.jp/entry/N01463
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  BCR-PLCG-ITPR signaling pathway. Pathway ID: N01463. Pathway type: Reference. Pathway class: nt06528 Calcium signaling.


systematic_name: M47580
exact_source: N00487
external_details_URL: https://www.kegg.jp/entry/N00487
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: IGH -> (LYN,SYK) -> (BTK,BLNK) -> PLCG2 -> IP3 -> Ca2+ -> CALM == CN -> NFAT

description_full:
  BCR-PLCG-Calcineurin signaling pathway. Pathway ID: N00487. Pathway type: Reference. Pathway class: nt06220 Calcium signaling.


description_brief: Pathway Definition from KEGG: S -> (IgG,IgM) -> ((C1QA,C1QB,C1QC)+C1R+C1S))
systematic_name: M47783
exact_source: N01314
external_details_URL: https://www.kegg.jp/entry/N01314
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  SARS-CoV-2 S to classical pathway of complement cascade. Pathway ID: N01314. Pathway type: Pathogen. Pathway class: nt06513 Complement cascade.


description_brief: Pathway Definition from KEGG: STAG1,STAG2 == PDS5+WAPL -> CDCA5,CTCF == STAG+PDS5+WAPL
systematic_name: M47869
exact_source: N01484
external_details_URL: https://www.kegg.jp/entry/N01484
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Establishment of cohesion. Pathway ID: N01484. Pathway type: Reference. Pathway class: nt06512 Chromosome cohesion and segregation.


description_brief: Pathway Definition from KEGG: SIGMAR1* -> ITPR -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS
systematic_name: M47751
exact_source: N01151
external_details_URL: https://www.kegg.jp/entry/N01151
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Mutation-inactivated SIGMAR1 to Ca2+ -apoptotic pathway. Pathway ID: N01151. Pathway type: Variant. Pathway class: nt06464 Amyotrophic lateral sclerosis.


description_brief: Pathway Definition from KEGG: CDKN2A -| MDM2 -| TP53 => CDKN1A -| (CCNE+CDK2) -> RB1 // E2F
systematic_name: M47591
exact_source: N00536
external_details_URL: https://www.kegg.jp/entry/N00536
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  MDM2-p21-Cell cycle G1/S. Pathway ID: N00536. Pathway type: Reference. Pathway class: nt06263 Hepatocellular carcinoma.


description_brief: Pathway Definition from KEGG: PRC1.3,PRC1.5 == TEX10+EP300 -- H3 -> H3K27ac
systematic_name: M47973
exact_source: N01701
external_details_URL: https://www.kegg.jp/entry/N01701
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Transcriptional activation by acetylation of H3K27. Pathway ID: N01701. Pathway type: Reference. Pathway class: nt06523 Epigenetic regulation by Polycomb complexes.


description_brief: Pathway Definition from KEGG: (NOD1,NOD2) -> RIPK2 -> IKK -> NFKBIA -> NFKB
systematic_name: M47652
exact_source: N00940
external_details_URL: https://www.kegg.jp/entry/N00940
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  NOD-NFKB signaling pathway. Pathway ID: N00940. Pathway type: Reference. Pathway class: nt06521 NLR signaling.


description_brief: Pathway Definition from KEGG: nLc4Cer -- ST3GAL6 -> snLc4Cer -- FUT3/4/5/6/7 -> SLex
systematic_name: M47967
exact_source: N01674
external_details_URL: https://www.kegg.jp/entry/N01674
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Sialyl lewis x antigen biosynthesis. Pathway ID: N01674. Pathway type: Reference. Pathway class: nt06035 Blood group carbohydrate antigen biosynthesis.


description_brief: Pathway Definition from KEGG: NDC80C == (SKA1+SKA2+SKA3) == PP1 -| (MPS1,AURKB)
systematic_name: M47891
exact_source: N01536
external_details_URL: https://www.kegg.jp/entry/N01536
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Dephosphorylation of kinetochore. Pathway ID: N01536. Pathway type: Reference. Pathway class: nt06515 Regulation of kinetochore-microtubule interactions.


description_brief: Pathway Definition from KEGG: CDX2* => (MUC2,CDH17,REG4,ABCB1)
systematic_name: M48976
exact_source: N00250
external_details_URL: https://www.kegg.jp/entry/N00250
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  CDX2-overexpression to transcriptional activation. Pathway ID: N00250. Pathway type: Variant. Pathway class: nt06261 Gastric cancer.


description_brief: Pathway Definition from KEGG: CENPA == CENPC == CENP-LN+CENP-HIKM+CENP-OPQUR == CENP-TWSX
systematic_name: M47884
exact_source: N01525
external_details_URL: https://www.kegg.jp/entry/N01525
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Organization of the inner kinetochore. Pathway ID: N01525. Pathway type: Reference. Pathway class: nt06515 Regulation of kinetochore-microtubule interactions.


description_brief: Pathway Definition from KEGG: Ser/Thr+Man-P-Dol -- POMT1/2 >> POMGNT2 >> B3GALNT2 >> POMK -> G13092
systematic_name: M47610
exact_source: N00627
external_details_URL: https://www.kegg.jp/entry/N00627
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Mannose type O-glycan biosynthesis, POMT to POMK. Pathway ID: N00627. Pathway type: Reference. Pathway class: nt06013 O-Glycan biosynthesis.


description_brief: Pathway Definition from KEGG: (RBCK1+RNF31+SHARPIN) -> (RIPK1,IKBKG,TNFRSF1A)
systematic_name: M47899
exact_source: N01545
external_details_URL: https://www.kegg.jp/entry/N01545
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Regulation of TNF-NFKB signaling pathway, LUBAC-mediated linear ubiquitination. Pathway ID: N01545. Pathway type: Reference. Pathway class: nt06516 TNF signaling.


description_brief: Pathway Definition from KEGG: (CENPF,BUBR1) == CENPE == microtubule
systematic_name: M47890
exact_source: N01535
external_details_URL: https://www.kegg.jp/entry/N01535
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Kinetochore microtubule attachment. Pathway ID: N01535. Pathway type: Reference. Pathway class: nt06515 Regulation of kinetochore-microtubule interactions.


description_brief: Pathway Definition from KEGG: (NPRL2+NPRL3+DEPDC5) -| (RRAGA+RRAGB+RRAGC+RRAGD) -> mTORC1
systematic_name: M47918
exact_source: N01578
external_details_URL: https://www.kegg.jp/entry/N01578
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  GATOR1-mTORC1 signaling pathway. Pathway ID: N01578. Pathway type: Reference. Pathway class: nt06522 mTOR signaling.


systematic_name: M47968
exact_source: N01678
external_details_URL: https://www.kegg.jp/entry/N01678
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: nLc4Cer -- B3GNT2/3/4 >> B4GALT1/3/4 -> i_antigen -- GCNT2*I -> I_antigen

description_full:
  Ii blood group antigen biosynthesis. Pathway ID: N01678. Pathway type: Reference. Pathway class: nt06035 Blood group carbohydrate antigen biosynthesis.


description_brief: Pathway Definition from KEGG: POLD3 == PIF1,MCM
systematic_name: M47840
exact_source: N01450
external_details_URL: https://www.kegg.jp/entry/N01450
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Break induced replication. Pathway ID: N01450. Pathway type: Reference. Pathway class: nt06506 Double-strand break repair.


description_brief: Pathway Definition from KEGG: (CGA+FSHB) -> FSHR -> GNAS -> ADCY -> cAMP -> PKA
systematic_name: M47650
exact_source: N00922
external_details_URL: https://www.kegg.jp/entry/N00922
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  FSHR-GNAS-PKA signaling pathway. Pathway ID: N00922. Pathway type: Reference. Pathway class: nt06323 KISS1-GnRH-LH/FSH-E2 signaling.


description_brief: Pathway Definition from KEGG: gamma-TuRC == Augumin == TPX2+microtubule
systematic_name: M47901
exact_source: N01549
external_details_URL: https://www.kegg.jp/entry/N01549
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Branching microtubule nucleation. Pathway ID: N01549. Pathway type: Reference. Pathway class: nt06515 Regulation of kinetochore-microtubule interactions.


description_brief: Pathway Definition from KEGG: Core -| YWHA -| RAF -> MEK -> ERK
systematic_name: M47589
exact_source: N00518
external_details_URL: https://www.kegg.jp/entry/N00518
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  HCV Core to ERK signaling pathway. Pathway ID: N00518. Pathway type: Pathogen. Pathway class: nt06263 Hepatocellular carcinoma.


systematic_name: M47858
exact_source: N01470
external_details_URL: https://www.kegg.jp/entry/N01470
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: TOPBP1+RECQL4 == POLE == GINS -> ORC+CDC6+CDT1 == CDC45+MCM+GINS == POLE+TOPBP1+TICRR+MTBP+RECQL4

description_full:
  Pre-IC formation. Pathway ID: N01470. Pathway type: Reference. Pathway class: nt06509 DNA replication.


description_brief: Pathway Definition from KEGG: IpaH7.8 -| GLMN -| (NLRP3+PYCARD) -> CASP1 -> IL1B
systematic_name: M48977
exact_source: N00948
external_details_URL: https://www.kegg.jp/entry/N00948
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Shigella IpaH7.8 to NLRP3 Inflammasome signaling pathway. Pathway ID: N00948. Pathway type: Pathogen. Pathway class: nt06521 NLR signaling.


description_brief: Pathway Definition from KEGG: (TREX1,DNASE1,DNASE2) -| DNA
systematic_name: M47913
exact_source: N01571
external_details_URL: https://www.kegg.jp/entry/N01571
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  DNA degradation by extracellular/endolysosomal DNAse. Pathway ID: N01571. Pathway type: Reference. Pathway class: nt06520 CGAS-STING signaling.


systematic_name: M47688
exact_source: N01000
external_details_URL: https://www.kegg.jp/entry/N01000
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: ACh -> mAChR -> GNAQ -> PLCB -> IP3 -> ITPR -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS

description_full:
  mAChR-Ca2+ -apoptotic pathway. Pathway ID: N01000. Pathway type: Reference. Pathway class: nt06528 Calcium signaling.


description_brief: Pathway Definition from KEGG: DJ1* // (DAXX+ASK1) -> JNK
systematic_name: M47712
exact_source: N01057
external_details_URL: https://www.kegg.jp/entry/N01057
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Mutation-inactivated DJ1 to FAS-JNK signaling patwhay. Pathway ID: N01057. Pathway type: Variant. Pathway class: nt06463 Parkinson disease.


description_brief: Pathway Definition from KEGG: Nicotine -> (CHRNA4+CHRNB2) -> JAK2 -> STAT3 => CCND1
systematic_name: M48978
exact_source: N01342
external_details_URL: https://www.kegg.jp/entry/N01342
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Nicotine to Jak-STAT signaling pathway. Pathway ID: N01342. Pathway type: Env factor. Pathway class: nt06219 JAK-STAT signaling.


systematic_name: M47793
exact_source: N01344
external_details_URL: https://www.kegg.jp/entry/N01344
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: (NNK,NNN) -> CHRN -> Ca2+ -> RAS -> RAF -> MEK -> ERK -> (FOS,JUN,MYC,BCL2)

description_full:
  NNK/NNN to RAS-ERK signaling pathway. Pathway ID: N01344. Pathway type: Env factor. Pathway class: nt06210 ERK signaling.


description_brief: Pathway Definition from KEGG: Ca2+(extracellular) -- LGCC -> Ca2+(cyto)
systematic_name: M47953
exact_source: N01642
external_details_URL: https://www.kegg.jp/entry/N01642
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Ca2+ entry, Ligand-gated Ca2+ channel. Pathway ID: N01642. Pathway type: Reference. Pathway class: nt06528 Calcium signaling.


description_brief: Pathway Definition from KEGG: ACh -> CHRNA7 -> Ca2+ -> RAS -> RAF -> MEK -> ERK -> CREB
systematic_name: M47792
exact_source: N01343
external_details_URL: https://www.kegg.jp/entry/N01343
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  ACH-CHRN-RAS-ERK signaling pathway. Pathway ID: N01343. Pathway type: Reference. Pathway class: nt06210 ERK signaling.


description_brief: Pathway Definition from KEGG: ACh -> CHRNA7 -> ARRB1 -> SRC -> RAF1 -> RB1 // E2F1
systematic_name: M47788
exact_source: N01336
external_details_URL: https://www.kegg.jp/entry/N01336
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  CHRNA7-E2F signaling pathway. Pathway ID: N01336. Pathway type: Reference. Pathway class: nt06230 Cell cycle.


systematic_name: M47789
exact_source: N01337
external_details_URL: https://www.kegg.jp/entry/N01337
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: (NNK,NNN) -> CHRNA7 -> ARRB1 -> SRC -> RAF1 -> RB1 // E2F1 => (BIRC5,XIAP,CDC6,CDC25A)

description_full:
  NNK/NNN to CHRNA7-E2F signaling pathway. Pathway ID: N01337. Pathway type: Env factor. Pathway class: nt06230 Cell cycle.


systematic_name: M47791
exact_source: N01339
external_details_URL: https://www.kegg.jp/entry/N01339
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: (NNK,NNN) -> CHRNA7 -> Ca2+ -> PI3K -> PIP3 -> AKT -> (MTOR,NFKB,BIRC5)

description_full:
  NNK/NNN to PI3K signaling pathway. Pathway ID: N01339. Pathway type: Env factor. Pathway class: nt06214 PI3K signaling.


description_brief: Pathway Definition from KEGG: (NLRP3+PYCARD) -> CASP1 -> (IL1B,IL18,IL33)
systematic_name: M47624
exact_source: N00742
external_details_URL: https://www.kegg.jp/entry/N00742
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  NLRP3 inflammasome signaling pathway. Pathway ID: N00742. Pathway type: Reference. Pathway class: nt06521 NLR signaling.


description_brief: Pathway Definition from KEGG: DNA -> CGAS -> cGAMP -> STING1 -> TBK1 -> IRF3 => (IFNA,IFNB)
systematic_name: M47539
exact_source: N00395
external_details_URL: https://www.kegg.jp/entry/N00395
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  cGAS-STING signaling pathway. Pathway ID: N00395. Pathway type: Reference. Pathway class: nt06520 CGAS-STING signaling.


description_brief: Pathway Definition from KEGG: (SLC16A10,SLC16A2) -> T3 -> (THRB,THRA) == RXR => (MYH6,ATP2A2)
systematic_name: M47629
exact_source: N00798
external_details_URL: https://www.kegg.jp/entry/N00798
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Thyroid hormone signaling pathway. Pathway ID: N00798. Pathway type: Reference. Pathway class: nt06322 TRH-TSH-TH signaling.


description_brief: Pathway Definition from KEGG: DCE -- GST -> C20304 -> C14874 == DNA
systematic_name: M47809
exact_source: N01386
external_details_URL: https://www.kegg.jp/entry/N01386
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  DCE to DNA adducts. Pathway ID: N01386. Pathway type: Env factor. Pathway class: nt06250 DNA adduct formation.


description_brief: Pathway Definition from KEGG: LRRK2* -> CYCS == APAF1 -> CASP9 -> CASP3
systematic_name: M48979
exact_source: N01047
external_details_URL: https://www.kegg.jp/entry/N01047
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Mutation-activated LRRK2 to intrinsic apoptotic pathway. Pathway ID: N01047. Pathway type: Variant. Pathway class: nt06463 Parkinson disease.


description_full: Fe-TF transport. Pathway ID: N01587. Pathway type: Reference. Pathway class: nt06525 Ferroptosis.
systematic_name: M47925
exact_source: N01587
external_details_URL: https://www.kegg.jp/entry/N01587
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: Fe2+ -- CP -> Fe3+ -- (TF+TFR1) -> Fe3+(endosome) -- STEAP3 -> Fe2+ -- (DMT1,ZIP8/14) -> Fe2+


description_brief: Pathway Definition from KEGG: X -> CREBBP == (CREB+ATF2) => (CXCL8,PCNA)
systematic_name: M47595
exact_source: N00544
external_details_URL: https://www.kegg.jp/entry/N00544
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  HBV HBx to CREB-mediated transcription. Pathway ID: N00544. Pathway type: Pathogen. Pathway class: nt06263 Hepatocellular carcinoma.


description_brief: Pathway Definition from KEGG: CRH -> CRHR -> GNAS -> ADCY -> cAMP -> PKA -> CREB -> ACTH
systematic_name: M47518
exact_source: N00324
external_details_URL: https://www.kegg.jp/entry/N00324
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  CRHR-PKA-ACTH signaling pathway. Pathway ID: N00324. Pathway type: Reference. Pathway class: nt06310 CRH-ACTH-cortisol signaling.


description_brief: Pathway Definition from KEGG: OA+AcCoA -- (CS,ACLY) >> ACO1/2 >> IDH -> 2OG
systematic_name: M47937
exact_source: N01604
external_details_URL: https://www.kegg.jp/entry/N01604
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Citrate cycle, first carbon oxidation. Pathway ID: N01604. Pathway type: Reference. Pathway class: nt06031 Citrate cycle and pyruvate metabolism.


description_brief: Pathway Definition from KEGG: SpvD -| XPO2 -> (KPNA1+KPNA3) -> NFKB
systematic_name: M48980
exact_source: N01118
external_details_URL: https://www.kegg.jp/entry/N01118
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Salmonella SpvD to TNF-NFKB signaling pathway. Pathway ID: N01118. Pathway type: Pathogen. Pathway class: nt06516 TNF signaling.


description_brief: Pathway Definition from KEGG: CK2 -| SMC4,NCAPD2,NCAPG,NCAPH
systematic_name: M47878
exact_source: N01501
external_details_URL: https://www.kegg.jp/entry/N01501
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Inactivation of condensin I. Pathway ID: N01501. Pathway type: Reference. Pathway class: nt06512 Chromosome cohesion and segregation.


description_brief: Pathway Definition from KEGG: CK2 -| PRC1.3,PRC1.5 -- H2AK119+UB
systematic_name: M47943
exact_source: N01620
external_details_URL: https://www.kegg.jp/entry/N01620
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Blocking ubiquitination of H2AK119 by CK2. Pathway ID: N01620. Pathway type: Reference. Pathway class: nt06523 Epigenetic regulation by Polycomb complexes.


description_brief: Pathway Definition from KEGG: (HJV,HFE,TFR2) -> ((ACVR2B,BMPR2)+(ACVR1,BMPR1A))
systematic_name: M47851
exact_source: N01461
external_details_URL: https://www.kegg.jp/entry/N01461
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  BMP-HAMP signaling pathway, auxiliary factor. Pathway ID: N01461. Pathway type: Reference. Pathway class: nt06507 TGFB signaling.


description_brief: Pathway Definition from KEGG: AvrA -> CTNNB1 -> TCF/LEF => MYC
systematic_name: M47736
exact_source: N01124
external_details_URL: https://www.kegg.jp/entry/N01124
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Salmonella AvrA to beta-catenin signaling pathway. Pathway ID: N01124. Pathway type: Pathogen. Pathway class: nt06505 WNT signaling.


description_brief: Pathway Definition from KEGG: SGO1+PP2A -| PLK1,AURKB,CDK1 -- STAG+CDCA5
systematic_name: M47870
exact_source: N01485
external_details_URL: https://www.kegg.jp/entry/N01485
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Cohesin dissociation in prophase. Pathway ID: N01485. Pathway type: Reference. Pathway class: nt06512 Chromosome cohesion and segregation.


description_brief: Pathway Definition from KEGG: (Nicotine,NNK) -> ADRB2 -> GNAI -> PI3K -> PIP3 -> AKT -| BAD
systematic_name: M47797
exact_source: N01348
external_details_URL: https://www.kegg.jp/entry/N01348
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Nicotine/NNK to PI3K signaling pathway. Pathway ID: N01348. Pathway type: Env factor. Pathway class: nt06214 PI3K signaling.


description_brief: Pathway Definition from KEGG: (EP,NE) -> ADRB2 -> GNAS -> ADCY -> cAMP -> PKA -> PLN
systematic_name: M47794
exact_source: N01345
external_details_URL: https://www.kegg.jp/entry/N01345
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EP/NE-ADRB-cAMP signaling pathway. Pathway ID: N01345. Pathway type: Reference. Pathway class: nt06234 cAMP signaling.


systematic_name: M47812
exact_source: N01401
external_details_URL: https://www.kegg.jp/entry/N01401
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: B[a]P -- (CYP1A1,CYP1B1) >> EH >> AKR -> C22355 -> Semiquinone -> Superoxide

description_full:
  Benzo[a]pyrenre to CYP-mediated metabolism. Pathway ID: N01401. Pathway type: Env factor. Pathway class: nt06251 CYP-mediated ROS formation.


description_brief: Pathway Definition from KEGG: PhIP -- CYP1A2 >> SULT1A -> N-sulfonyloxy-PhIP == DNA
systematic_name: M47807
exact_source: N01371
external_details_URL: https://www.kegg.jp/entry/N01371
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  PhIP to DNA adducts. Pathway ID: N01371. Pathway type: Env factor. Pathway class: nt06250 DNA adduct formation.


description_brief: Pathway Definition from KEGG: ADRB3 -> GNAS -> ADCY -> cAMP -> PKA -> JMD1A+SWI/SNF+PPARG => UCP1
systematic_name: M47969
exact_source: N01688
external_details_URL: https://www.kegg.jp/entry/N01688
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  ADRB3-UCP1 signaling pathway. Pathway ID: N01688. Pathway type: Reference. Pathway class: nt06529 Thermogenesis.


systematic_name: M47631
exact_source: N00805
external_details_URL: https://www.kegg.jp/entry/N00805
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7 >> CYP8B1 >> AKR1D1 >> AKR1C4 >> CYP27A1 >> SLC27A5 >> AMACR >> ACOX2 >> HSD17B4 >> SCP2 >> ACOT8 -> Cholate

description_full:
  Bile acid biosynthesis. Pathway ID: N00805. Pathway type: Reference. Pathway class: nt06022 Bile acid biosynthesis.


systematic_name: M47522
exact_source: N00338
external_details_URL: https://www.kegg.jp/entry/N00338
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: Progesterone -- CYP17A1 >> CYP21A2 >> CYP11B1/2 -> Cortisol -- HSD11B2 -> Cortisone

description_full:
  Steroid hormone biosynthesis, progesterone to cortisol/cortisone. Pathway ID: N00338. Pathway type: Reference. Pathway class: nt06019 Steroid hormone biosynthesis.


systematic_name: M47895
exact_source: N01541
external_details_URL: https://www.kegg.jp/entry/N01541
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: Pregnenolone -- CYP17A1 >> HSD3B1/2 -> Androstenedione -- (AKR1C3,HSD17B) -> T -- SRD5A -> DHT

description_full:
  Testosterone biosynthesis. Pathway ID: N01541. Pathway type: Reference. Pathway class: nt06019 Steroid hormone biosynthesis.


description_brief: Pathway Definition from KEGG: (DAG1+(SNTA1,SNTB1,SNTB2,SNTG1,SNTG2)+DTNA) // DMD* // (ACTB,ACTG1)
systematic_name: M47575
exact_source: N00465
external_details_URL: https://www.kegg.jp/entry/N00465
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Deleted DMD to dystrophin-associated protein complex. Pathway ID: N00465. Pathway type: Variant. Pathway class: .


description_brief: Pathway Definition from KEGG: (SPRED+NF1) -| RAS
systematic_name: M47932
exact_source: N01597
external_details_URL: https://www.kegg.jp/entry/N01597
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Regulation of GF-RTK-RAS-ERK signaling, SPRED and NF1. Pathway ID: N01597. Pathway type: Reference. Pathway class: nt06526 MAPK signaling.


description_brief: Pathway Definition from KEGG: (DCTN+DNAH+DNAI+DNALI1+DNAL) == (TUBA+TUBB)
systematic_name: M47669
exact_source: N00976
external_details_URL: https://www.kegg.jp/entry/N00976
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Retrograde axonal transport. Pathway ID: N00976. Pathway type: Reference. Pathway class: nt06463 Parkinson disease.


description_brief: Pathway Definition from KEGG: DCTN1* // (TUBA+TUBB)
systematic_name: M47753
exact_source: N01158
external_details_URL: https://www.kegg.jp/entry/N01158
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Mutation-caused aberrant DCTN1 to retrograde axonal transport. Pathway ID: N01158. Pathway type: Variant. Pathway class: nt06464 Amyotrophic lateral sclerosis.


description_brief: Pathway Definition from KEGG: FUS-DDIT3 == (NFKBIZ+NFKB) => CXCL8
systematic_name: M48981
exact_source: N00140
external_details_URL: https://www.kegg.jp/entry/N00140
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  FUS-DDIT3 fusion to NFKB-mediated transcription. Pathway ID: N00140. Pathway type: Variant. Pathway class: nt06240 Transcription.


description_brief: Pathway Definition from KEGG: RNF168 -> RAD18+UBB == SLF1+SLF2 == SMC5-SMC6
systematic_name: M47947
exact_source: N01636
external_details_URL: https://www.kegg.jp/entry/N01636
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Loading of the SMC5-SMC6 complex. Pathway ID: N01636. Pathway type: Reference. Pathway class: nt06506 Double-strand break repair.


description_brief: Pathway Definition from KEGG: AGE -> AGER -> RAS -> RAF -> MEK -> ERK -> NFKB => (TNF,IL6,NOS2)
systematic_name: M47682
exact_source: N00994
external_details_URL: https://www.kegg.jp/entry/N00994
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  AGE-RAGE signaling pathway. Pathway ID: N00994. Pathway type: Reference. Pathway class: nt06460 Alzheimer disease.


description_brief: Pathway Definition from KEGG: IpgB1 -> (DOCK1+ELMO) -> RAC1
systematic_name: M48982
exact_source: N00952
external_details_URL: https://www.kegg.jp/entry/N00952
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Shigella IpgB1 to ITGA/B-RHOG-RAC signaling pathway. Pathway ID: N00952. Pathway type: Pathogen. Pathway class: nt06135 Cytoskeletal regulation (viruses and bacteria).


description_brief: Pathway Definition from KEGG: P-Dol -- ALG7 >> (ALG13+ALG14) >> ALG1 >> ALG2 >> ALG11 -> G00006
systematic_name: M47612
exact_source: N00653
external_details_URL: https://www.kegg.jp/entry/N00653
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  N-Glycan precursor biosynthesis, ALG7 to ALG11. Pathway ID: N00653. Pathway type: Reference. Pathway class: nt06015 N-Glycan biosynthesis.


description_brief: Pathway Definition from KEGG: DA -> DRD1 -> GNAS -> ADCY5 -> cAMP -> PKA -> CREB
systematic_name: M47551
exact_source: N00410
external_details_URL: https://www.kegg.jp/entry/N00410
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  DRD1-GNAS-AC-PKA signaling pathway. Pathway ID: N00410. Pathway type: Reference. Pathway class: nt06167 Human cytomegalovirus (HCMV).


description_brief: Pathway Definition from KEGG: E6 -> JAG1 -> NOTCH -> (NICD+RBPJ+MAML) => (HES1,HEY1)
systematic_name: M47532
exact_source: N00380
external_details_URL: https://www.kegg.jp/entry/N00380
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  HPV E6 to Notch signaling pathway. Pathway ID: N00380. Pathway type: Pathogen. Pathway class: nt06511 NOTCH signaling.


description_brief: Pathway Definition from KEGG: (PTP,MKP) -| (ERK,JNK,MAPK14)
systematic_name: M47928
exact_source: N01593
external_details_URL: https://www.kegg.jp/entry/N01593
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Regulation of GF-RTK-RAS-ERK signaling, PTP. Pathway ID: N01593. Pathway type: Reference. Pathway class: nt06526 MAPK signaling.


description_brief: Pathway Definition from KEGG: AngII -> AGTR1 -> NOX2 -> ROS -> NFKB -> (VCAM1,IL6,MMP2,MMP9)
systematic_name: M47780
exact_source: N01306
external_details_URL: https://www.kegg.jp/entry/N01306
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  AngII-AT1R-NOX2 signaling pathway. Pathway ID: N01306. Pathway type: Reference. Pathway class: nt06171 SARS coronavirus 2 (SARS-CoV-2).


systematic_name: M47508
exact_source: N00301
external_details_URL: https://www.kegg.jp/entry/N00301
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: AngII -> AGTR1 -> GNAQ -> PLCB -> IP3 -> Ca2+ -> CALM -> CAMK -> CREB => CYP11B2 -> Aldosterone

description_full:
  Angiotensin-aldosterone signaling pathway. Pathway ID: N00301. Pathway type: Reference. Pathway class: nt06316 Renin-angiotensin-aldosterone signaling.


systematic_name: M47731
exact_source: N01097
external_details_URL: https://www.kegg.jp/entry/N01097
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: LPA -> LPAR -> GNA12/13 -> (ARHGEF12,ARHGEF1,ARHGEF11) -> RHOA -> ROCK1/2

description_full:
  LPA-GNA12/13-RhoA signaling pathway. Pathway ID: N01097. Pathway type: Reference. Pathway class: nt06135 Cytoskeletal regulation (viruses and bacteria).


description_brief: Pathway Definition from KEGG: LPA -> LPAR -> (GNAQ,GNA11) -> ARHGEF12 -> RHOA
systematic_name: M47732
exact_source: N01104
external_details_URL: https://www.kegg.jp/entry/N01104
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  LPA-GNAQ/11-RhoA signaling pathway. Pathway ID: N01104. Pathway type: Reference. Pathway class: nt06135 Cytoskeletal regulation (viruses and bacteria).


description_brief: Pathway Definition from KEGG: LPA -> LPAR -> GNB/G -> RHOA
systematic_name: M47549
exact_source: N00408
external_details_URL: https://www.kegg.jp/entry/N00408
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  LPAR-GNB/G-Rho signaling pathway. Pathway ID: N00408. Pathway type: Reference. Pathway class: nt06167 Human cytomegalovirus (HCMV).


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> GRB2 -> SOS -> RAS -> (RASSF1+RASSF5) -> STK4
systematic_name: M47432
exact_source: N00096
external_details_URL: https://www.kegg.jp/entry/N00096
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-RAS-RASSF1 signaling pathway. Pathway ID: N00096. Pathway type: Reference. Pathway class: nt06266 Non-small cell lung cancer.


description_brief: Pathway Definition from KEGG: EGF* -> EGFR -> GRB2 -> SOS -> RAS -> RAF -> MEK -> ERK
systematic_name: M47495
exact_source: N00276
external_details_URL: https://www.kegg.jp/entry/N00276
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-overexpression to RAS-ERK signaling pathway. Pathway ID: N00276. Pathway type: Variant. Pathway class: nt06260 Colorectal cancer.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> GRB2 -> SOS -> RAS -> RAF -> MEK -> ERK -> CCND1
systematic_name: M47363
exact_source: N00001
external_details_URL: https://www.kegg.jp/entry/N00001
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-RAS-ERK signaling pathway. Pathway ID: N00001. Pathway type: Reference. Pathway class: nt06260 Colorectal cancer.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> GRB2 -> SOS -> RAS -> MEKK1 -> MKK4 -> JNK
systematic_name: M47594
exact_source: N00542
external_details_URL: https://www.kegg.jp/entry/N00542
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-RAS-JNK signaling pathway. Pathway ID: N00542. Pathway type: Reference. Pathway class: nt06526 MAPK signaling.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> GRB2 -> SOS -> RAS -> PI3K -> PIP3 -> AKT -| BAD
systematic_name: M47389
exact_source: N00030
external_details_URL: https://www.kegg.jp/entry/N00030
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-RAS-PI3K signaling pathway. Pathway ID: N00030. Pathway type: Reference. Pathway class: nt06260 Colorectal cancer.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> GRB2 -> SOS -> RAS -> RALGDS -> RAL
systematic_name: M47436
exact_source: N00103
external_details_URL: https://www.kegg.jp/entry/N00103
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-RAS-RalGDS signaling pathway. Pathway ID: N00103. Pathway type: Reference. Pathway class: nt06260 Colorectal cancer.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> JAK1 -> STAT1/3/5
systematic_name: M47430
exact_source: N00094
external_details_URL: https://www.kegg.jp/entry/N00094
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-Jak-STAT signaling pathway. Pathway ID: N00094. Pathway type: Reference. Pathway class: nt06262 Pancreatic cancer.


description_brief: Pathway Definition from KEGG: EGF* -> EGFR -> PI3K -> PIP3 -> AKT
systematic_name: M47498
exact_source: N00281
external_details_URL: https://www.kegg.jp/entry/N00281
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-overexpression to PI3K signaling pathway. Pathway ID: N00281. Pathway type: Variant. Pathway class: nt06260 Colorectal cancer.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> PI3K -> PIP3 -> AKT -> IKK -> NFKBIA -> NFKB
systematic_name: M47536
exact_source: N00390
external_details_URL: https://www.kegg.jp/entry/N00390
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-PI3K-NFKB signaling pathway. Pathway ID: N00390. Pathway type: Reference. Pathway class: nt06214 PI3K signaling.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> PI3K -> PIP3 -> AKT -| BAD
systematic_name: M47392
exact_source: N00033
external_details_URL: https://www.kegg.jp/entry/N00033
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-PI3K signaling pathway. Pathway ID: N00033. Pathway type: Reference. Pathway class: nt06260 Colorectal cancer.


systematic_name: M47382
exact_source: N00023
external_details_URL: https://www.kegg.jp/entry/N00023
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: EGF -> EGFR -> PLCG -> IP3 -> (Ca2+,DAG) -> PKC -> RAF -> MEK -> ERK -> CCND1

description_full:
  EGF-EGFR-PLCG-ERK signaling pathway. Pathway ID: N00023. Pathway type: Reference. Pathway class: nt06266 Non-small cell lung cancer.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> PLCG -> IP3 -> Ca2+ -> CALM == CN -> NFAT
systematic_name: M47449
exact_source: N00147
external_details_URL: https://www.kegg.jp/entry/N00147
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-PLCG-calcineurin signaling pathway. Pathway ID: N00147. Pathway type: Reference. Pathway class: nt06220 Calcium signaling.


description_brief: Pathway Definition from KEGG: EGF -> EGFR -> PLCG -> IP3 -> Ca2+ -> CALM == CAMK
systematic_name: M47385
exact_source: N00026
external_details_URL: https://www.kegg.jp/entry/N00026
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EGF-EGFR-PLCG-CAMK signaling pathway. Pathway ID: N00026. Pathway type: Reference. Pathway class: nt06273 Glioma.


systematic_name: M47722
exact_source: N01078
external_details_URL: https://www.kegg.jp/entry/N01078
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: EGF -> EGFR -> SRC -> CTTN -> NCK -> (WASL+WIPF) -> ARP2/3 -> (ACTB,ACTG1)

description_full:
  EGF-EGFR-Actin signaling pathway. Pathway ID: N01078. Pathway type: Reference. Pathway class: nt06135 Cytoskeletal regulation (viruses and bacteria).


description_brief: Pathway Definition from KEGG: EGF -> (ERBB2*+EGFR) -> JAK1 -> STAT1/3 => VEGFA
systematic_name: M47431
exact_source: N00095
external_details_URL: https://www.kegg.jp/entry/N00095
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  ERBB2-overexpression to EGF-Jak-STAT signaling pathway. Pathway ID: N00095. Pathway type: Variant. Pathway class: nt06262 Pancreatic cancer.


description_brief: Pathway Definition from KEGG: GF -> RTK -> PLCG -> IP3 -> ITPR -> Ca2+(cyto)
systematic_name: M47952
exact_source: N01641
external_details_URL: https://www.kegg.jp/entry/N01641
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  RTK-PLCG-ITPR signaling pathway. Pathway ID: N01641. Pathway type: Reference. Pathway class: nt06528 Calcium signaling.


description_brief: Pathway Definition from KEGG: GF -> RTK -> GRB2 -> SOS -> RAS -> RAF -> MEK -> ERK
systematic_name: M47927
exact_source: N01592
external_details_URL: https://www.kegg.jp/entry/N01592
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  GF-RTK-RAS-ERK signaling pathway. Pathway ID: N01592. Pathway type: Reference. Pathway class: nt06526 MAPK signaling.


description_brief: Pathway Definition from KEGG: GF -> RTK -> PI3K -> PIP3 -> AKT
systematic_name: M47961
exact_source: N01656
external_details_URL: https://www.kegg.jp/entry/N01656
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  GF-RTK-PI3K signaling pathway. Pathway ID: N01656. Pathway type: Reference. Pathway class: nt06530 PI3K signaling.


description_brief: Pathway Definition from KEGG: GF -> RTK -> GRB2 -> SOS -> RAS -> PI3K -> PIP3 -> AKT
systematic_name: M47963
exact_source: N01658
external_details_URL: https://www.kegg.jp/entry/N01658
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  GF-RTK-RAS-PI3K signaling pathway. Pathway ID: N01658. Pathway type: Reference. Pathway class: nt06530 PI3K signaling.


description_brief: Pathway Definition from KEGG: EGFR* -> PI3K -> PIP3 -> AKT -> MTOR
systematic_name: M47394
exact_source: N00035
external_details_URL: https://www.kegg.jp/entry/N00035
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Amplified EGFR to PI3K signaling pathway. Pathway ID: N00035. Pathway type: Variant. Pathway class: nt06273 Glioma.


systematic_name: M47383
exact_source: N00024
external_details_URL: https://www.kegg.jp/entry/N00024
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: EGFR* -> PLCG -> IP3 -> (Ca2+,DAG) -> PKC -> RAF -> MEK -> ERK -> CCND1

description_full:
  Mutation-activated EGFR to PLCG-ERK signaling pathway. Pathway ID: N00024. Pathway type: Variant. Pathway class: nt06266 Non-small cell lung cancer.


description_brief: Pathway Definition from KEGG: EGFR* -> PLCG -> IP3 -> Ca2+ -> CALM == CAMK
systematic_name: M47386
exact_source: N00027
external_details_URL: https://www.kegg.jp/entry/N00027
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Amplified EGFR to PLCG-CAMK signaling pathway. Pathway ID: N00027. Pathway type: Variant. Pathway class: nt06273 Glioma.


description_brief: Pathway Definition from KEGG: TCDD -> (AHR+ARNT) => (CYP1A1,CYP1B1,GST)
systematic_name: M47806
exact_source: N01365
external_details_URL: https://www.kegg.jp/entry/N01365
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  TCDD to Ahr signaling pathway. Pathway ID: N01365. Pathway type: Env factor. Pathway class: nt06227 Nuclear receptor signaling.


description_brief: Pathway Definition from KEGG: KA -> (AHR+ARNT) => (IL6,IL22,PTGS2,VEGFA,CYP1A1,CYP1B1)
systematic_name: M47513
exact_source: N00317
external_details_URL: https://www.kegg.jp/entry/N00317
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  AhR signaling pathway. Pathway ID: N00317. Pathway type: Reference. Pathway class: nt06227 Nuclear receptor signaling.


systematic_name: M47905
exact_source: N01555
external_details_URL: https://www.kegg.jp/entry/N01555
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: (EPO,GH,PRL,THPO,CSF3,LEP) -> (EPOR,GHR,PRLR,MPL,CSF3R,LEPR) -> JAK2 -> (STAT5A,STAT5B,STAT3)

description_full:
  Hormone-like-cytokine to Jak-STAT signaling pathway. Pathway ID: N01555. Pathway type: Reference. Pathway class: nt06518 JAK-STAT signaling.


description_brief: Pathway Definition from KEGG: EREG -> EGFR -> PI3K -> PIP3 -> AKT -> MTOR -> S6K
systematic_name: M47499
exact_source: N00282
external_details_URL: https://www.kegg.jp/entry/N00282
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  EREG-EGFR-PI3K signaling pathway. Pathway ID: N00282. Pathway type: Reference. Pathway class: nt06260 Colorectal cancer.


systematic_name: M47826
exact_source: N01431
external_details_URL: https://www.kegg.jp/entry/N01431
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: (ERCC3+ERCC2+GTF2H) == ERCC5 == XPA == RPA -> (ERCC1+ERCC4) == XPA == RPA == ERCC5 -> PCNA == POLD,POLE,POLK,POLH -> LIG1,(LIG3+XRCC1)

description_full:
  Core NER reaction. Pathway ID: N01431. Pathway type: Reference. Pathway class: nt06502 Nucleotide excision repair.


description_brief: Pathway Definition from KEGG: TMPRSS2-ERG => (PLAU,PLAT,MMP3,MMP9,ZEB1,IL1R2)
systematic_name: M47443
exact_source: N00128
external_details_URL: https://www.kegg.jp/entry/N00128
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  TMPRSS2-ERG fusion to transcriptional activation. Pathway ID: N00128. Pathway type: Variant. Pathway class: nt06272 Prostate cancer.


description_brief: Pathway Definition from KEGG: ERN1 -> TRAF2 -> MAP3K5 -> MAP2K7 -> JNK
systematic_name: M47697
exact_source: N01013
external_details_URL: https://www.kegg.jp/entry/N01013
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  IRE1a-JNK signaling pathway. Pathway ID: N01013. Pathway type: Reference. Pathway class: nt06534 Unfolded protein response.


description_brief: Pathway Definition from KEGG: E2 -> ESR1/2 => (EGF,FGF9,DLL)
systematic_name: M47805
exact_source: N01364
external_details_URL: https://www.kegg.jp/entry/N01364
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  E2 to nuclear-initiated estrogen signaling pathway. Pathway ID: N01364. Pathway type: Env factor. Pathway class: nt06227 Nuclear receptor signaling.


description_brief: Pathway Definition from KEGG: E2 -> ESR1/2 -> SRC -> RAS -> RAF -> MEK -> ERK -> CREB
systematic_name: M47799
exact_source: N01351
external_details_URL: https://www.kegg.jp/entry/N01351
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  E2-ER-RAS-ERK signaling pathway. Pathway ID: N01351. Pathway type: Reference. Pathway class: nt06210 ERK signaling.


systematic_name: M47801
exact_source: N01353
external_details_URL: https://www.kegg.jp/entry/N01353
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: E2 -> ESR1/2 -> SRC -> RAS -> RAF -> MEK -> ERK -> (ESR1/2,AP1) => CHRNA9

description_full:
  E2 to RAS-ERK signaling pathway. Pathway ID: N01353. Pathway type: Env factor. Pathway class: nt06210 ERK signaling.


description_brief: Pathway Definition from KEGG: E2 -> ((ESR1/2)+(NCOA1/2/3)) => (BCL2,EBAG9,KRT19,CTSD,TFF1,PGR)
systematic_name: M47503
exact_source: N00286
external_details_URL: https://www.kegg.jp/entry/N00286
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Nuclear-initiated estrogen signaling pathway. Pathway ID: N00286. Pathway type: Reference. Pathway class: nt06323 KISS1-GnRH-LH/FSH-E2 signaling.


description_brief: Pathway Definition from KEGG: E2 -> (ESR*+(NCOA3,NCOA1)) => (CCND1,MYC)
systematic_name: M48983
exact_source: N00287
external_details_URL: https://www.kegg.jp/entry/N00287
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  ESR1-positive to nuclear-initiated estrogen signaling pathway. Pathway ID: N00287. Pathway type: Variant. Pathway class: nt06270 Breast cancer.


systematic_name: M47606
exact_source: N00601
external_details_URL: https://www.kegg.jp/entry/N00601
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS >> UROD >> CPOX >> PPOX >> FECH -> Heme

description_full:
  Heme biosynthesis. Pathway ID: N00601. Pathway type: Reference. Pathway class: nt06011 Heme biosynthesis.


systematic_name: M47921
exact_source: N01582
external_details_URL: https://www.kegg.jp/entry/N01582
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: G00157 -- EXTL2/3 >> EXT1/2 >> EXTL1/3 >> NDST >> GLCE >> HS6ST1 -> Heparan_sulfate

description_full:
  Heparan sulfate biosynthesis. Pathway ID: N01582. Pathway type: Reference. Pathway class: nt06029 Glycosaminoglycan biosynthesis.


systematic_name: M47917
exact_source: N01577
external_details_URL: https://www.kegg.jp/entry/N01577
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_brief:
  Pathway Definition from KEGG: PRC2.1 == (EPOP+ELOB+ELOC),(LCOR,LCORL+CTBP1,CTBP2) -- H3 -> PRC2.2 -- H3K27me3 == cPRC1 -- H2AK119+UB

description_full:
  Gene silencing by methylation of H3K27 and ubiquitination of H2AK119. Pathway ID: N01577. Pathway type: Reference. Pathway class: nt06523 Epigenetic regulation by Polycomb complexes.


description_brief: Pathway Definition from KEGG: F2 -- ((MBL2,COLEC10/11,FCN)+MASP2) -> F2a
systematic_name: M47784
exact_source: N01315
external_details_URL: https://www.kegg.jp/entry/N01315
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  Lectin pathway of coagulation cascade, prothrombin to thrombin. Pathway ID: N01315. Pathway type: Reference. Pathway class: nt06171 SARS coronavirus 2 (SARS-CoV-2).


description_brief: Pathway Definition from KEGG: (GPCR+GNB+GNG) -> PI3Kgamma -> PIP3 -> AKT
systematic_name: M47962
exact_source: N01657
external_details_URL: https://www.kegg.jp/entry/N01657
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  GPCR-PI3K signaling pathway. Pathway ID: N01657. Pathway type: Reference. Pathway class: nt06530 PI3K signaling.


description_brief: Pathway Definition from KEGG: GPCR -> GNAQ -> PLCB -> IP3 -> ITPR -> Ca2+(cyto)
systematic_name: M47951
exact_source: N01640
external_details_URL: https://www.kegg.jp/entry/N01640
source_species_code: HS
contributor: KEGG
contrib_organization: Kyoto Encyclopedia of Genes and Genomes
description_full:
  GPCR-PLCB-ITPR signaling pathway. Pathway ID: N01640. Pathway type: Reference. Pathway class: nt06528 Calcium signaling.


