# gene_set_details

description_brief: Localized hirsutism
systematic_name: M37455
exact_source: HP:0009889
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009889
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased hair growth with a localized distribution. [https://orcid.org/0000-0002-0736-9199]


description_brief: High anterior hairline
systematic_name: M37456
exact_source: HP:0009890
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009890
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. [PMID:19125436]


description_brief: Underdeveloped supraorbital ridges
systematic_name: M37457
exact_source: HP:0009891
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009891
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Flatness of the supraorbital portion of the frontal bones. [https://orcid.org/0000-0002-0736-9199, PMID:19125436]


description_brief: Anotia
systematic_name: M37458
exact_source: HP:0009892
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009892
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete absence of any auricular structures. [https://orcid.org/0000-0002-0736-9199, PMID:19125421]


description_brief: Abnormality of the crus of the helix
systematic_name: M37460
exact_source: HP:0009895
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009895
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal antitragus morphology
systematic_name: M37461
exact_source: HP:0009896
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009896
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. [https://orcid.org/0000-0002-0736-9199]


description_brief: Prominent crus of helix
systematic_name: M43371
exact_source: HP:0009899
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009899
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. [https://orcid.org/0000-0002-0736-9199, PMID:19152421]


description_brief: Crumpled ear
systematic_name: M46163
exact_source: HP:0009901
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009901
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. [PMID:19152421]


description_brief: Attached earlobe
systematic_name: M46164
exact_source: HP:0009907
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009907
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. [PMID:19152421]


description_brief: Anterior creases of earlobe
systematic_name: M45433
exact_source: HP:0009908
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009908
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. [PMID:19152421]


description_brief: Uplifted earlobe
systematic_name: M37463
exact_source: HP:0009909
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009909
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. [https://orcid.org/0000-0002-0736-9199, PMID:19152421]


description_brief: Abnormal temporal bone morphology
systematic_name: M37464
exact_source: HP:0009911
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009911
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cyclopia
systematic_name: M37466
exact_source: HP:0009914
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009914
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. [HPO_CONTRIBUTOR:DDD_ncarter]


description_brief: Anisocoria
systematic_name: M37467
exact_source: HP:0009916
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009916
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. [https://orcid.org/0000-0002-0736-9199]


description_brief: Persistent pupillary membrane
systematic_name: M37468
exact_source: HP:0009917
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009917
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ectopia pupillae
systematic_name: M37469
exact_source: HP:0009918
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009918
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malposition of the pupil owing to a developmental defect of the iris. [https://orcid.org/0000-0001-8727-6592, https://orcid.org/0000-0002-0736-9199]


description_brief: Duane anomaly
systematic_name: M48781
exact_source: HP:0009921
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009921
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction [https://orcid.org/0000-0002-0736-9199]


description_brief: Epiphora
systematic_name: M37471
exact_source: HP:0009926
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009926
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased lacrimation, that is, excessive tearing (watering eye). [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:28003974]


description_brief: Duplication of thumb phalanx
systematic_name: M37478
exact_source: HP:0009942
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009942
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [https://orcid.org/0009-0006-4530-3154]


description_brief: Complete duplication of phalanx of hand
systematic_name: M37479
exact_source: HP:0009998
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009998
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [https://orcid.org/0000-0002-0736-9199]


description_brief: Partial duplication of the phalanx of hand
systematic_name: M37480
exact_source: HP:0009999
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009999
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Partial duplication of the distal phalanges of the hand
systematic_name: M37481
exact_source: HP:0010004
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010004
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/Hypoplasia of the 1st metacarpal
systematic_name: M45434
exact_source: HP:0010026
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010026
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [https://orcid.org/0000-0002-0736-9199]


description_brief: Short 1st metacarpal
systematic_name: M37486
exact_source: HP:0010034
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010034
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia of metacarpal bones
systematic_name: M37491
exact_source: HP:0010048
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010048
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Developmental defect associated with absence of one or more metacarpal bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal morphology of the proximal phalanx of the hallux
systematic_name: M47150
exact_source: HP:0010052
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010052
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal shape or form of the proximal phalanx of the big toe. [https://orcid.org/0000-0002-0736-9199]


description_brief: Broad hallux phalanx
systematic_name: M37497
exact_source: HP:0010059
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010059
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in width in one or more phalanges of the big toe. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mesoaxial foot polydactyly
systematic_name: M46169
exact_source: HP:0010112
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010112
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/Hypoplasia of the distal phalanges of the toes
systematic_name: M37506
exact_source: HP:0010185
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010185
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence or underdevelopment of the distal phalanges of the toes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Broad distal phalanx of the toes
systematic_name: M47153
exact_source: HP:0010186
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010186
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased width of the distal phalanx of toe of one or more toes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cone-shaped epiphyses of the phalanges of the hand
systematic_name: M48784
exact_source: HP:0010230
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010230
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ivory epiphyses of the phalanges of the hand
systematic_name: M43373
exact_source: HP:0010234
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010234
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pseudoepiphyses of the phalanges of the hand
systematic_name: M45435
exact_source: HP:0010235
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010235
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short proximal phalanx of finger
systematic_name: M37510
exact_source: HP:0010241
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010241
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Congenital hypoplasia of one or more proximal phalanx of finger. [https://orcid.org/0000-0002-0736-9199]


description_brief: Stomatitis
systematic_name: M37512
exact_source: HP:0010280
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010280
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thin lower lip vermilion
systematic_name: M43374
exact_source: HP:0010282
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010282
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). [PMID:19125428]


description_brief: Abnormal salivary gland morphology
systematic_name: M37513
exact_source: HP:0010286
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010286
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the salivary glands, the exocrine glands that produce saliva. [https://orcid.org/0000-0002-0736-9199]


description_brief: Palate fistula
systematic_name: M37516
exact_source: HP:0010294
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010294
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ankyloglossia
systematic_name: M37518
exact_source: HP:0010296
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010296
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. [PMID:19125428]


description_brief: Spinal dysraphism
systematic_name: M45437
exact_source: HP:0010301
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010301
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal spinal meningeal morphology
systematic_name: M37523
exact_source: HP:0010303
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010303
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. [https://orcid.org/0000-0002-0736-9199]


description_brief: Stridor
systematic_name: M37526
exact_source: HP:0010307
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010307
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. [https://orcid.org/0000-0002-0736-9199, PMID:26229557]


description_brief: Chylothorax
systematic_name: M37527
exact_source: HP:0010310
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010310
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ebstein anomaly of the tricuspid valve
systematic_name: M45438
exact_source: HP:0010316
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010316
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Polydactyly
systematic_name: M37535
exact_source: HP:0010442
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010442
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital anomaly characterized by the presence of supernumerary fingers or toes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary insufficiency
systematic_name: M37536
exact_source: HP:0010444
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010444
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-3302-4610, PMID:32491496]


description_brief: Tricuspid stenosis
systematic_name: M41385
exact_source: HP:0010446
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010446
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A narrowing of the orifice of the tricuspid valve of the heart. [https://orcid.org/0000-0002-0736-9199, PMID:18222317]


description_brief: Anal fistula
systematic_name: M43375
exact_source: HP:0010447
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010447
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Acetabular spurs
systematic_name: M37539
exact_source: HP:0010454
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010454
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal greater sciatic notch morphology
systematic_name: M37540
exact_source: HP:0010456
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010456
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Female pseudohermaphroditism
systematic_name: M37541
exact_source: HP:0010458
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010458
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [https://orcid.org/0000-0002-0736-9199]


description_brief: True hermaphroditism
systematic_name: M37542
exact_source: HP:0010459
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010459
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. [https://orcid.org/0000-0002-0736-9199, PMID:11327376]


description_brief: Streak ovary
systematic_name: M37545
exact_source: HP:0010464
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010464
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent testis
systematic_name: M37546
exact_source: HP:0010469
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010469
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Testis not palpable in the scrotum or inguinal canal. [https://orcid.org/0000-0002-0736-9199, PMID:23650202]


description_brief: Oligosacchariduria
systematic_name: M37547
exact_source: HP:0010471
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010471
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating porphyrin concentration
systematic_name: M41387
exact_source: HP:0010472
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010472
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Urethral fistula
systematic_name: M46177
exact_source: HP:0010480
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010480
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormal connection between the urethra and another organ or the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Urethral valve
systematic_name: M37549
exact_source: HP:0010481
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010481
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormal membrane obstructing the urethra. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperextensibility at elbow
systematic_name: M46178
exact_source: HP:0010485
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010485
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The ability of the elbow joint to move beyond its normal range of motion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the hypothenar eminence
systematic_name: M43376
exact_source: HP:0010486
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010486
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent palmar crease
systematic_name: M37552
exact_source: HP:0010489
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010489
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Sirenomelia
systematic_name: M37553
exact_source: HP:0010497
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010497
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect in which the legs are fused together. [https://orcid.org/0000-0002-0736-9199]


description_brief: Patellar subluxation
systematic_name: M37554
exact_source: HP:0010499
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010499
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperextensibility of the knee
systematic_name: M37555
exact_source: HP:0010500
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010500
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). [https://orcid.org/0000-0002-0736-9199]


description_brief: Metatarsus valgus
systematic_name: M37557
exact_source: HP:0010508
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010508
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. [https://orcid.org/0000-0002-0736-9199]


description_brief: Long toe
systematic_name: M37558
exact_source: HP:0010511
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010511
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Toes that appear disproportionately long compared to the foot. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Hyperpituitarism
systematic_name: M37559
exact_source: HP:0010514
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010514
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dyslexia
systematic_name: M37561
exact_source: HP:0010522
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010522
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). [https://orcid.org/0000-0002-0736-9199]


description_brief: Alexia
systematic_name: M43377
exact_source: HP:0010523
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010523
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dysgraphia
systematic_name: M37565
exact_source: HP:0010526
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010526
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. [https://orcid.org/0000-0002-0736-9199]


description_brief: Transient global amnesia
systematic_name: M37567
exact_source: HP:0010534
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010534
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information. [https://orcid.org/0000-0002-0736-9199]


description_brief: Central sleep apnea
systematic_name: M37569
exact_source: HP:0010536
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010536
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. [PMID:35551411, PMID:36031317]


description_brief: Wide cranial sutures
systematic_name: M37570
exact_source: HP:0010537
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010537
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). [https://orcid.org/0000-0002-0736-9199]


description_brief: Opsoclonus
systematic_name: M37571
exact_source: HP:0010543
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010543
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bursts of large-amplitude multidirectional saccades without intersaccadic interval [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123]


description_brief: Vertical nystagmus
systematic_name: M37572
exact_source: HP:0010544
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010544
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Downbeat nystagmus
systematic_name: M46179
exact_source: HP:0010545
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010545
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. [https://orcid.org/0000-0002-0736-9199, PMID:21505601]


description_brief: Muscle fibrillation
systematic_name: M37573
exact_source: HP:0010546
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010546
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. [https://orcid.org/0000-0002-0736-9199]


description_brief: Muscle flaccidity
systematic_name: M37574
exact_source: HP:0010547
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010547
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Percussion myotonia
systematic_name: M37575
exact_source: HP:0010548
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010548
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). [https://orcid.org/0000-0002-0736-9199]


description_brief: Weakness due to upper motor neuron dysfunction
systematic_name: M37576
exact_source: HP:0010549
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010549
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. [https://orcid.org/0000-0002-0736-9199]


description_brief: Paraplegia
systematic_name: M37577
exact_source: HP:0010550
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010550
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Severe or complete weakness of both lower extremities with sparing of the upper extremities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Paraplegia/paraparesis
systematic_name: M37578
exact_source: HP:0010551
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010551
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. [https://orcid.org/0000-0002-0736-9199]


description_brief: Oculogyric crisis
systematic_name: M37579
exact_source: HP:0010553
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010553
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cutaneous finger syndactyly
systematic_name: M37580
exact_source: HP:0010554
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010554
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. [PMID:19125433]


description_brief: Overlapping fingers
systematic_name: M37581
exact_source: HP:0010557
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010557
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Bifid epiglottis
systematic_name: M37582
exact_source: HP:0010564
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010564
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/Hypoplasia of the Epiglottis
systematic_name: M37583
exact_source: HP:0010565
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010565
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term applies if the Epiglottis is absent or hypoplastic. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hamartoma
systematic_name: M37584
exact_source: HP:0010566
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010566
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dysplasia of the femoral head
systematic_name: M41393
exact_source: HP:0010575
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010575
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of developmental dysplasia of the femoral head. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cone-shaped epiphysis
systematic_name: M37588
exact_source: HP:0010579
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010579
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Irregular epiphyses
systematic_name: M37590
exact_source: HP:0010582
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010582
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ivory epiphyses
systematic_name: M37591
exact_source: HP:0010583
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010583
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [https://orcid.org/0009-0006-4530-3154]


description_brief: Type 2 muscle fiber predominance
systematic_name: M43378
exact_source: HP:0010602
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010602
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). [https://orcid.org/0000-0002-0736-9199]


description_brief: Skin tags
systematic_name: M37594
exact_source: HP:0010609
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010609
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. [https://orcid.org/0009-0006-4530-3154]


description_brief: Fibroadenoma of the breast
systematic_name: M37597
exact_source: HP:0010619
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010619
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign biphasic tumor of the breast with epithelial and stromal components. [https://orcid.org/0000-0002-0736-9199, PMID:23396888]


description_brief: Malar prominence
systematic_name: M37598
exact_source: HP:0010620
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010620
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. [https://orcid.org/0000-0002-9602-2321]


description_brief: Cutaneous syndactyly of toes
systematic_name: M37599
exact_source: HP:0010621
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010621
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Anterior pituitary agenesis
systematic_name: M37603
exact_source: HP:0010626
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010626
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of the anterior pituitary gland resulting from a developmental defect. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-5316-1399]


description_brief: Anterior pituitary hypoplasia
systematic_name: M48789
exact_source: HP:0010627
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010627
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the anterior pituitary gland. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Schizencephaly
systematic_name: M37604
exact_source: HP:0010636
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010636
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated alkaline phosphatase of bone origin
systematic_name: M37605
exact_source: HP:0010639
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010639
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal nasal cavity morphology
systematic_name: M37606
exact_source: HP:0010640
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010640
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). [https://orcid.org/0000-0002-0736-9199]


description_brief: Dermal translucency
systematic_name: M37608
exact_source: HP:0010648
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010648
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. [https://orcid.org/0000-0002-0736-9199]


description_brief: Flat nasal alae
systematic_name: M37609
exact_source: HP:0010649
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010649
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal meningeal morphology
systematic_name: M37610
exact_source: HP:0010651
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010651
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. [https://orcid.org/0000-0002-0736-9199]


description_brief: Epiphyseal stippling
systematic_name: M37612
exact_source: HP:0010655
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010655
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal epiphyseal ossification
systematic_name: M37613
exact_source: HP:0010656
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010656
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 an epiphysis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Patchy changes of bone mineral density
systematic_name: M37614
exact_source: HP:0010658
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010658
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal hand bone ossification
systematic_name: M37615
exact_source: HP:0010660
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010660
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 any bone of the skeleton of hand. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the diencephalon
systematic_name: M37616
exact_source: HP:0010662
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010662
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypoplasia of the zygomatic bone
systematic_name: M45439
exact_source: HP:0010669
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010669
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0000-0002-0736-9199, PMID:19125436]


description_brief: Abnormal curvature of the vertebral column
systematic_name: M37621
exact_source: HP:0010674
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010674
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormal curvature of the vertebral column. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal foot bone ossification
systematic_name: M37622
exact_source: HP:0010675
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010675
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 any bone of the skeleton of foot. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated tissue non-specific alkaline phosphatase
systematic_name: M37624
exact_source: HP:0010679
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010679
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulverulent cataract
systematic_name: M37625
exact_source: HP:0010693
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010693
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199]


description_brief: Sutural cataract
systematic_name: M46180
exact_source: HP:0010695
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010695
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. [https://orcid.org/0000-0002-0736-9199]


description_brief: Polar cataract
systematic_name: M37626
exact_source: HP:0010696
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010696
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased circulating antibody level
systematic_name: M37627
exact_source: HP:0010702
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010702
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased level of gamma globulin (immunoglobulin) in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal hair whorl
systematic_name: M37630
exact_source: HP:0010721
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010721
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). [https://orcid.org/0000-0002-0736-9199]


description_brief: Asymmetry of the ears
systematic_name: M41396
exact_source: HP:0010722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An asymmetriy, i.e., difference in size, shape or position between the left and right ear. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cherry red spot of the macula
systematic_name: M37631
exact_source: HP:0010729
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010729
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. [https://orcid.org/0000-0002-0736-9199]


description_brief: Nodular changes affecting the eyelids
systematic_name: M45440
exact_source: HP:0010732
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010732
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. [https://orcid.org/0009-0006-4530-3154]


description_brief: Osteopathia striata
systematic_name: M46182
exact_source: HP:0010740
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010740
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. [https://orcid.org/0009-0006-4530-3154]


description_brief: Pedal edema
systematic_name: M37633
exact_source: HP:0010741
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010741
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Medial flaring of the eyebrow
systematic_name: M37636
exact_source: HP:0010747
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010747
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal distribution of eyebrow hair growth in the medial direction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Blepharochalasis
systematic_name: M41397
exact_source: HP:0010749
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010749
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. [PMID:3207663]


description_brief: Dermatochalasis
systematic_name: M41398
exact_source: HP:0010750
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010750
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the premaxilla
systematic_name: M37639
exact_source: HP:0010758
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010758
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0009-0006-4530-3154]


description_brief: Prominence of the premaxilla
systematic_name: M37640
exact_source: HP:0010759
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010759
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. [https://orcid.org/0000-0001-5889-4463, https://orcid.org/0009-0006-4530-3154, PMID:19125436]


description_brief: Absent toe
systematic_name: M37641
exact_source: HP:0010760
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010760
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ectopic calcification
systematic_name: M37644
exact_source: HP:0010766
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010766
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deposition of calcium salts in a tissue or location in which calcification does not normally occur. [https://orcid.org/0000-0002-0736-9199]


description_brief: Partial anomalous pulmonary venous return
systematic_name: M43379
exact_source: HP:0010773
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010773
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperacusis
systematic_name: M37646
exact_source: HP:0010780
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010780
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Over-sensitivity to certain frequency ranges of sound. [PMID:14645606, PMID:14647932, PMID:31669363]


description_brief: Skin dimple
systematic_name: M37647
exact_source: HP:0010781
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010781
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Erythema
systematic_name: M37648
exact_source: HP:0010783
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010783
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6548-5200]


description_brief: Impaired visuospatial constructive cognition
systematic_name: M37653
exact_source: HP:0010794
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010794
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). [https://orcid.org/0009-0006-4530-3154, PMID:10521286]


description_brief: Hemangioblastoma
systematic_name: M37654
exact_source: HP:0010797
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010797
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. [https://orcid.org/0000-0002-0736-9199]


description_brief: Everted upper lip vermilion
systematic_name: M37655
exact_source: HP:0010803
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010803
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. [https://orcid.org/0000-0002-0736-9199, PMID:19125428]


description_brief: Tented upper lip vermilion
systematic_name: M37656
exact_source: HP:0010804
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010804
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. [PMID:19125428]


description_brief: U-Shaped upper lip vermilion
systematic_name: M37657
exact_source: HP:0010806
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010806
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. [PMID:19125428]


description_brief: Nevus sebaceous
systematic_name: M46184
exact_source: HP:0010815
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010815
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. [https://orcid.org/0000-0002-0736-9199]


description_brief: Epidermal nevus
systematic_name: M37660
exact_source: HP:0010816
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010816
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. [https://orcid.org/0000-0002-0736-9199, PMID:20542174]


description_brief: Generalized tonic seizure
systematic_name: M43380
exact_source: HP:0010818
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010818
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, PMID:11580774, PMID:28276060, PMID:28276064]


description_brief: Atonic seizure
systematic_name: M37661
exact_source: HP:0010819
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010819
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178, PMID:11580774]


description_brief: Abnormal seventh cranial physiology
systematic_name: M45441
exact_source: HP:0010827
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010827
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hemifacial spasm
systematic_name: M37662
exact_source: HP:0010828
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010828
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. [https://orcid.org/0000-0002-0736-9199, PMID:12145388]


description_brief: Impaired temperature sensation
systematic_name: M37663
exact_source: HP:0010829
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010829
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to discriminate between different temperatures. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired tactile sensation
systematic_name: M37664
exact_source: HP:0010830
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010830
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired proprioception
systematic_name: M37665
exact_source: HP:0010831
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010831
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A loss or impairment of the sensation of the relative position of parts of the body and joint position. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of pain sensation
systematic_name: M37666
exact_source: HP:0010832
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010832
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Spontaneous pain sensation
systematic_name: M41399
exact_source: HP:0010833
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010833
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. [https://orcid.org/0000-0002-0736-9199]


description_brief: Trophic changes related to pain
systematic_name: M43381
exact_source: HP:0010834
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010834
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating ceruloplasmin concentration
systematic_name: M47161
exact_source: HP:0010837
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010837
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased concentration of ceruloplasmin in the blood. [https://orcid.org/0000-0002-0736-9199, PMID:32119309]


description_brief: Multifocal epileptiform discharges
systematic_name: M37669
exact_source: HP:0010841
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010841
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). [https://orcid.org/0000-0002-0736-9199]


description_brief: EEG with multifocal slow activity
systematic_name: M37670
exact_source: HP:0010844
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010844
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO_CONTRIBUTOR:jalbers]


description_brief: EEG with generalized slow activity
systematic_name: M37671
exact_source: HP:0010845
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010845
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [https://orcid.org/0000-0002-0736-9199]


description_brief: EEG with spike-wave complexes (2.5-3.5 Hz)
systematic_name: M41400
exact_source: HP:0010848
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010848
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). [https://orcid.org/0000-0002-0736-9199]


description_brief: EEG with spike-wave complexes
systematic_name: M37673
exact_source: HP:0010850
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010850
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [https://orcid.org/0000-0002-0736-9199]


description_brief: EEG with burst suppression
systematic_name: M37674
exact_source: HP:0010851
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010851
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. [https://orcid.org/0000-0002-0736-9199, PMID:22323592]


description_brief: EEG with photoparoxysmal response
systematic_name: M46185
exact_source: HP:0010852
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010852
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. [https://orcid.org/0000-0002-0736-9199]


description_brief: Delayed fine motor development
systematic_name: M37675
exact_source: HP:0010862
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010862
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. [https://orcid.org/0000-0002-0736-9199]


description_brief: Receptive language delay
systematic_name: M37676
exact_source: HP:0010863
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010863
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A delay in the acquisition of the ability to understand the speech of others. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intellectual disability, severe
systematic_name: M37677
exact_source: HP:0010864
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010864
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sensory ataxia
systematic_name: M37678
exact_source: HP:0010871
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010871
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tendon xanthomatosis
systematic_name: M37679
exact_source: HP:0010874
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010874
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased nuchal translucency
systematic_name: M37681
exact_source: HP:0010880
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010880
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). [https://orcid.org/0000-0002-0736-9199, PMID:12751779, PMID:15846173, PMID:28511453]


description_brief: Abnormality of the umbilical cord
systematic_name: M37682
exact_source: HP:0010881
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010881
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. [https://orcid.org/0000-0002-0736-9199]


description_brief: Avascular necrosis
systematic_name: M37683
exact_source: HP:0010885
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010885
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. [https://orcid.org/0009-0006-4530-3154]


description_brief: Osteochondritis dissecans
systematic_name: M46188
exact_source: HP:0010886
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010886
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormal circulating branched chain amino acid concentration
systematic_name: M37684
exact_source: HP:0010892
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010892
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating phenylalanine concentration
systematic_name: M37685
exact_source: HP:0010893
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010893
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of phenylalanine in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating serine family amino acid concentration
systematic_name: M37686
exact_source: HP:0010894
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010894
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of a serine family amino acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating glycine concentration
systematic_name: M37687
exact_source: HP:0010895
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010895
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of glycine in the blood circulation. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Abnormal circulating aspartate family amino acid concentration
systematic_name: M37688
exact_source: HP:0010899
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010899
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating methionine concentration
systematic_name: M43382
exact_source: HP:0010901
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010901
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of methionine in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating glutamine family amino acid concentration
systematic_name: M37690
exact_source: HP:0010902
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010902
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating glutamine concentration
systematic_name: M37691
exact_source: HP:0010903
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010903
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of glutamine in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating proline concentration
systematic_name: M37692
exact_source: HP:0010907
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010907
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Abnormal circulating lysine concentration
systematic_name: M47162
exact_source: HP:0010908
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010908
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of lysine in the blood circulation. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Abnormal circulating arginine concentration
systematic_name: M37693
exact_source: HP:0010909
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010909
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of arginine in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Zonular cataract
systematic_name: M37696
exact_source: HP:0010920
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010920
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Zonular cataracts are defined to be cataracts that affect specific regions of the lens. [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199, PMID:18035564]


description_brief: Anterior subcapsular cataract
systematic_name: M48793
exact_source: HP:0010923
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010923
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal nasal bone morphology
systematic_name: M37704
exact_source: HP:0010939
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010939
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Echogenic fetal bowel
systematic_name: M47165
exact_source: HP:0010943
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010943
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. [https://orcid.org/0000-0002-0736-9199, PMID:16100637, PMID:20175047]


description_brief: Fetal pyelectasis
systematic_name: M47166
exact_source: HP:0010945
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010945
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. [https://orcid.org/0000-0002-0736-9199, PMID:16100637]


description_brief: Abnormal fetal cardiovascular morphology
systematic_name: M37706
exact_source: HP:0010948
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010948
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the fetal circulation 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. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Noncommunicating hydrocephalus
systematic_name: M43384
exact_source: HP:0010953
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010953
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed. [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199]


description_brief: Congenital posterior urethral valve
systematic_name: M41403
exact_source: HP:0010957
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010957
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect resulting in an obstructing membrane in the posterior male urethra. [eMedicine:1016086, https://orcid.org/0000-0002-0736-9199]


description_brief: Absence of stomach bubble on fetal sonography
systematic_name: M47169
exact_source: HP:0010963
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010963
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. [https://orcid.org/0000-0002-0736-9199, PMID:20538709]


description_brief: Abnormal circulating long-chain fatty-acid concentration
systematic_name: M37708
exact_source: HP:0010964
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010964
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating fatty-acid anion concentration
systematic_name: M37709
exact_source: HP:0010966
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010966
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of a fatty acid anion in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anemia of inadequate production
systematic_name: M37710
exact_source: HP:0010972
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010972
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of anemia characterized by inadequate production of erythrocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal phagocytosis
systematic_name: M48794
exact_source: HP:0010977
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010977
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. [https://orcid.org/0000-0002-0736-9199, PMID:28691037]


description_brief: Abnormality of lipoprotein cholesterol concentration
systematic_name: M37714
exact_source: HP:0010979
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010979
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperlipoproteinemia
systematic_name: M37715
exact_source: HP:0010980
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010980
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in the level of lipoprotein cholesterol in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Polygenic inheritance
systematic_name: M37717
exact_source: HP:0010982
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010982
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. [https://orcid.org/0000-0002-0736-9199, ISBN:978-0192628961]


description_brief: Digenic inheritance
systematic_name: M37718
exact_source: HP:0010984
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010984
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of multifactorial inheritance governed by the simultaneous action of two gene loci. [https://orcid.org/0000-0002-0736-9199, ISBN:978-0192628961]


description_brief: Abnormality of the extrinsic pathway
systematic_name: M37720
exact_source: HP:0010988
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010988
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the intrinsic pathway
systematic_name: M37721
exact_source: HP:0010989
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010989
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal corpus striatum morphology
systematic_name: M37725
exact_source: HP:0010994
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010994
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. [https://orcid.org/0000-0002-0736-9199, PMID:21469956]


description_brief: Abnormal circulating dicarboxylic acid concentration
systematic_name: M41404
exact_source: HP:0010995
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010995
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating monocarboxylic acid concentration
systematic_name: M37726
exact_source: HP:0010996
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010996
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Chromosomal breakage induced by ionizing radiation
systematic_name: M37727
exact_source: HP:0010997
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0010997
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. [https://orcid.org/0009-0006-4530-3154, PMID:16814619]


description_brief: Increased bone mineral density
systematic_name: M37728
exact_source: HP:0011001
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011001
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Osteopetrosis
systematic_name: M37729
exact_source: HP:0011002
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011002
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal systemic arterial morphology
systematic_name: M37731
exact_source: HP:0011004
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011004
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. [https://orcid.org/0000-0002-0736-9199]


description_brief: Temporal pattern
systematic_name: M37733
exact_source: HP:0011008
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011008
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The speed at which disease manifestations appear and develop. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating carbohydrate concentration
systematic_name: M37734
exact_source: HP:0011013
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011013
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of a carbohydrate in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal blood glucose concentration
systematic_name: M37736
exact_source: HP:0011015
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011015
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the concentration of glucose in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal blood transition element cation concentration
systematic_name: M37742
exact_source: HP:0011030
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011030
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the homeostasis (concentration) of transition element cation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of iron homeostasis
systematic_name: M37743
exact_source: HP:0011031
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011031
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the homeostasis (concentration) of iron cation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Amyloidosis
systematic_name: M37745
exact_source: HP:0011034
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011034
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. [https://orcid.org/0000-0002-0736-9199, PMID:21039326]


description_brief: Abnormality of renal excretion
systematic_name: M37747
exact_source: HP:0011036
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011036
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An altered ability of the kidneys to void urine and/or specific substances. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal helix morphology
systematic_name: M37750
exact_source: HP:0011039
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011039
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of dental structure
systematic_name: M37755
exact_source: HP:0011061
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011061
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the structure or composition of the teeth. [https://orcid.org/0000-0002-9338-3017]


description_brief: Supernumerary tooth
systematic_name: M37759
exact_source: HP:0011069
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011069
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of one or more teeth additional to the normal number. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Impacted tooth
systematic_name: M41405
exact_source: HP:0011079
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011079
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). [https://orcid.org/0000-0002-9338-3017]


description_brief: Increased overbite
systematic_name: M37764
exact_source: HP:0011094
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011094
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Peripheral demyelination
systematic_name: M37765
exact_source: HP:0011096
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011096
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Epileptic spasm
systematic_name: M37766
exact_source: HP:0011097
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011097
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages [HPO_CONTRIBUTOR:jalbers, PMID:28276060]


description_brief: Speech apraxia
systematic_name: M37767
exact_source: HP:0011098
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011098
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intestinal atresia
systematic_name: M37768
exact_source: HP:0011100
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011100
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal closure, or atresia of the tubular structure of the intestine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ileal atresia
systematic_name: M46193
exact_source: HP:0011102
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011102
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal closure, or atresia of the tubular structure of the ileum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypovolemia
systematic_name: M47175
exact_source: HP:0011106
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011106
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent aphthous stomatitis
systematic_name: M48795
exact_source: HP:0011107
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011107
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent tonsillitis
systematic_name: M41406
exact_source: HP:0011110
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011110
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. [https://orcid.org/0000-0002-0736-9199, PMID:15897415]


description_brief: Abnormal immune serum protein physiology
systematic_name: M48796
exact_source: HP:0011111
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011111
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the concentration or function of circulating immune proteins. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of cytokine secretion
systematic_name: M43388
exact_source: HP:0011113
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011113
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating interleukin concentration
systematic_name: M38400
exact_source: HP:0011117
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011117
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of an interleukin (a class of cytokines) is outside the limits of normal. [PMID:28487810]


description_brief: Abnormal nasal dorsum morphology
systematic_name: M37775
exact_source: HP:0011119
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011119
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the nasal dorsum, also known as the nasal ridge. [https://orcid.org/0000-0002-0736-9199, PMID:19152422]


description_brief: Concave nasal ridge
systematic_name: M37776
exact_source: HP:0011120
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011120
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. [https://orcid.org/0000-0002-0736-9199, PMID:19152422]


description_brief: Abnormality of dermal melanosomes
systematic_name: M37779
exact_source: HP:0011125
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011125
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic furunculosis
systematic_name: M46194
exact_source: HP:0011132
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011132
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased sensitivity to ionizing radiation
systematic_name: M37780
exact_source: HP:0011133
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011133
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased sensitivity to the effects of ionizing radiation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal skin adnexa morphology
systematic_name: M47177
exact_source: HP:0011138
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011138
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. [https://orcid.org/0000-0002-0736-9199]


description_brief: Symptomatic seizures
systematic_name: M37782
exact_source: HP:0011145
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011145
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. [PMID:18184148]


description_brief: Dialeptic seizure
systematic_name: M37783
exact_source: HP:0011146
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011146
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. [PMID:9738682]


description_brief: Typical absence seizure
systematic_name: M41407
exact_source: HP:0011147
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011147
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]


description_brief: Myoclonic absence seizure
systematic_name: M37784
exact_source: HP:0011150
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011150
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. [https://orcid.org/0000-0001-8486-0558, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609]


description_brief: Focal motor seizure
systematic_name: M37785
exact_source: HP:0011153
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011153
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 a motor sign as its initial semiological manifestation. [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]


description_brief: Focal autonomic seizure
systematic_name: M43392
exact_source: HP:0011154
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011154
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]


description_brief: Focal sensory seizure
systematic_name: M37786
exact_source: HP:0011157
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011157
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A focal sensory seizure is a type seizure beginning with a subjective sensation. [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1511-5893, PMID:28276060, PMID:28276062, PMID:28276064]


description_brief: Focal sensory seizure with visual features
systematic_name: M43393
exact_source: HP:0011165
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011165
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. [HPO_CONTRIBUTOR:jalbers]


description_brief: Focal myoclonic seizure
systematic_name: M37787
exact_source: HP:0011166
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011166
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [PMID:11580774, PMID:28276060, PMID:28276064]


description_brief: Focal tonic seizure
systematic_name: M41408
exact_source: HP:0011167
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011167
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. [HPO_CONTRIBUTOR:jalbers, PMID:11580774, PMID:28276060, PMID:28276064]


description_brief: Generalized clonic seizure
systematic_name: M37788
exact_source: HP:0011169
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011169
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]


description_brief: Generalized myoclonic-atonic seizure
systematic_name: M43394
exact_source: HP:0011170
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011170
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]


description_brief: Simple febrile seizure
systematic_name: M41409
exact_source: HP:0011171
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011171
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. [HPO_CONTRIBUTOR:jalbers, PMID:19125841, PMID:6779259, PMID:972656]


description_brief: Complex febrile seizure
systematic_name: M37789
exact_source: HP:0011172
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011172
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. [HPO_CONTRIBUTOR:jalbers, PMID:19125841, PMID:972656]


description_brief: EEG with focal epileptiform discharges
systematic_name: M37790
exact_source: HP:0011185
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011185
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO_CONTRIBUTOR:jalbers]


description_brief: EEG with focal sharp slow waves
systematic_name: M37792
exact_source: HP:0011195
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011195
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO_CONTRIBUTOR:jalbers]


description_brief: EEG with focal sharp waves
systematic_name: M37793
exact_source: HP:0011196
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011196
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG with focal sharp transient waves of a duration between 80 and 200 msec. [HPO_CONTRIBUTOR:jalbers]


description_brief: EEG with focal spike waves
systematic_name: M37794
exact_source: HP:0011197
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011197
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. [HPO_CONTRIBUTOR:jalbers]


description_brief: EEG with generalized epileptiform discharges
systematic_name: M46195
exact_source: HP:0011198
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011198
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. [HPO_CONTRIBUTOR:jalbers]


description_brief: EEG with generalized sharp slow waves
systematic_name: M41410
exact_source: HP:0011199
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011199
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO_CONTRIBUTOR:jalbers]


description_brief: Short face
systematic_name: M37799
exact_source: HP:0011219
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011219
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). [PMID:19125436]


description_brief: Prominent eyelashes
systematic_name: M43395
exact_source: HP:0011231
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011231
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. [PMID:19125427]


description_brief: Microtia, first degree
systematic_name: M48799
exact_source: HP:0011266
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011266
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. [PMID:19152421]


description_brief: Microtia, third degree
systematic_name: M37805
exact_source: HP:0011267
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011267
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of some auricular structures, but none of these structures conform to recognized ear components. [PMID:19152421]


description_brief: Anisocytosis
systematic_name: M37806
exact_source: HP:0011273
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011273
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased variability in the size of erythrocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent mycobacterial infections
systematic_name: M37807
exact_source: HP:0011274
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011274
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal metencephalon morphology
systematic_name: M47181
exact_source: HP:0011283
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011283
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Long palm
systematic_name: M43396
exact_source: HP:0011302
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011302
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. [PMID:19125433]


description_brief: Slender toe
systematic_name: M37814
exact_source: HP:0011308
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011308
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. [PMID:19125433]


description_brief: Multiple suture craniosynostosis
systematic_name: M37817
exact_source: HP:0011324
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011324
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. [https://orcid.org/0000-0002-2972-5481]


description_brief: Posterior plagiocephaly
systematic_name: M47182
exact_source: HP:0011327
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011327
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Asymmetry of the posterior part of the skull. [https://orcid.org/0000-0002-2972-5481, PMID:10876272]


description_brief: Abnormality of cranial sutures
systematic_name: M37819
exact_source: HP:0011329
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011329
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of upper lip vermillion
systematic_name: M37824
exact_source: HP:0011339
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011339
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mild global developmental delay
systematic_name: M37826
exact_source: HP:0011342
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011342
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mild delay in the achievement of motor or mental milestones in the domains of development of a child. [https://orcid.org/0000-0002-6410-0882]


description_brief: Moderate global developmental delay
systematic_name: M37827
exact_source: HP:0011343
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011343
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. [https://orcid.org/0000-0002-6410-0882]


description_brief: Severe global developmental delay
systematic_name: M37828
exact_source: HP:0011344
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011344
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe delay in the achievement of motor or mental milestones in the domains of development of a child. [https://orcid.org/0000-0002-6410-0882]


description_brief: Generalized abnormality of skin
systematic_name: M37829
exact_source: HP:0011354
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011354
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the skin that is not localized to any one particular region. [https://orcid.org/0000-0003-1773-4011]


description_brief: Localized skin lesion
systematic_name: M37830
exact_source: HP:0011355
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011355
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A lesion of the skin that is located in a specific region rather than being generalized. [https://orcid.org/0000-0003-1773-4011]


description_brief: Regional abnormality of skin
systematic_name: M37831
exact_source: HP:0011356
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011356
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the skin that is restricted to a particular body region. [https://orcid.org/0000-0003-1773-4011]


description_brief: Acquired abnormal hair pattern
systematic_name: M37834
exact_source: HP:0011360
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011360
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the distribution of hair growth that is acquired during the course of life. [https://orcid.org/0000-0003-1773-4011]


description_brief: Congenital abnormal hair pattern
systematic_name: M46199
exact_source: HP:0011361
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011361
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital abnormality of the distribution of hair growth. [https://orcid.org/0000-0003-1773-4011]


description_brief: Recurrent cutaneous fungal infections
systematic_name: M45443
exact_source: HP:0011370
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011370
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections. []


description_brief: Abnormal morphology of the vestibule of the inner ear
systematic_name: M37839
exact_source: HP:0011376
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011376
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]


description_brief: Abnormality of the internal auditory canal
systematic_name: M37841
exact_source: HP:0011384
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011384
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]


description_brief: Abnormality of the dorsal column of the spinal cord
systematic_name: M43399
exact_source: HP:0011397
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011397
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal CNS myelination
systematic_name: M37845
exact_source: HP:0011400
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011400
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of myelination of nerves in the central nervous system. [https://orcid.org/0000-0002-9102-5232]


description_brief: Abnormal placental membrane morphology
systematic_name: M37846
exact_source: HP:0011409
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011409
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. [PMID:28939208]


description_brief: Caesarian section
systematic_name: M37847
exact_source: HP:0011410
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011410
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). []


description_brief: Placental abruption
systematic_name: M43400
exact_source: HP:0011419
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011419
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Separation of the placenta from the uterus wall before delivery. [https://orcid.org/0000-0002-6410-0882]


description_brief: Death in adolescence
systematic_name: M41415
exact_source: HP:0011421
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011421
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal blood chloride concentration
systematic_name: M37848
exact_source: HP:0011422
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011422
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of chloride homeostasis or concentration in the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fetal ultrasound soft marker
systematic_name: M37849
exact_source: HP:0011425
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011425
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. [PMID:16100637]


description_brief: Abnormal maternal serum screening
systematic_name: M48802
exact_source: HP:0011436
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011436
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. [https://orcid.org/0000-0002-6410-0882, PMID:19038077]


description_brief: Maternal autoimmune disease
systematic_name: M48803
exact_source: HP:0011437
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011437
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A medical history of a fetus or child born to a mother with an autoimmune disease. [https://orcid.org/0000-0002-6410-0882]


description_brief: Ankle clonus
systematic_name: M37851
exact_source: HP:0011448
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011448
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. [https://orcid.org/0000-0002-0736-9199]


description_brief: Knee clonus
systematic_name: M37852
exact_source: HP:0011449
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011449
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Primary microcephaly
systematic_name: M37853
exact_source: HP:0011451
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011451
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Head circumference below 2 standard deviations below the mean for age and gender at birth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Loss of eyelashes
systematic_name: M43402
exact_source: HP:0011457
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011457
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term refers to the loss of eyelashes that were previously present. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fetal onset
systematic_name: M43403
exact_source: HP:0011461
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011461
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). [https://orcid.org/0000-0002-7744-1790]


description_brief: Facial tics
systematic_name: M41416
exact_source: HP:0011468
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011468
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. [https://orcid.org/0000-0003-2958-5076]


description_brief: Abnormal lacrimal punctum morphology
systematic_name: M43404
exact_source: HP:0011479
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011479
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal lacrimal duct morphology
systematic_name: M37866
exact_source: HP:0011481
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011481
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal lacrimal gland morphology
systematic_name: M37867
exact_source: HP:0011482
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011482
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal corneal endothelium morphology
systematic_name: M37868
exact_source: HP:0011488
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011488
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. [https://orcid.org/0000-0001-8727-6592]


description_brief: Abnormal Descemet membrane morphology
systematic_name: M43407
exact_source: HP:0011490
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011490
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. [https://orcid.org/0000-0001-8727-6592]


description_brief: Abnormal corneal stroma morphology
systematic_name: M37869
exact_source: HP:0011492
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011492
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the stroma of cornea, also known as the substantia propria of cornea. [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal corneal epithelium morphology
systematic_name: M37871
exact_source: HP:0011495
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011495
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. [https://orcid.org/0000-0001-8727-6592]


description_brief: Bull's eye maculopathy
systematic_name: M37874
exact_source: HP:0011504
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011504
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. [https://orcid.org/0000-0001-8727-6592]


description_brief: Cystoid macular edema
systematic_name: M37875
exact_source: HP:0011505
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011505
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cystoid macular edema (CME) is any type of macular edema that involves cyst formation. [HPO_CONTRIBUTOR:DDD_ncarter]


description_brief: Choroidal neovascularization
systematic_name: M37876
exact_source: HP:0011506
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011506
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. [HPO_CONTRIBUTOR:DDD_ncarter]


description_brief: Drusen
systematic_name: M37877
exact_source: HP:0011510
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011510
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. [https://orcid.org/0000-0001-8727-6592]


description_brief: Hyperpigmentation of the fundus
systematic_name: M37878
exact_source: HP:0011512
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011512
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased pigmentation of the fundus [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0003-0986-4123]


description_brief: Achromatopsia
systematic_name: M37879
exact_source: HP:0011516
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011516
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. [https://orcid.org/0000-0001-8727-6592, PMID:12015282]


description_brief: Anomalous trichromacy
systematic_name: M37880
exact_source: HP:0011519
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011519
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vitritis
systematic_name: M37882
exact_source: HP:0011531
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011531
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal atrial arrangement
systematic_name: M41419
exact_source: HP:0011535
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011535
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the spatial relationship of the atria to other components of the heart. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Abnormal atrioventricular connection
systematic_name: M37884
exact_source: HP:0011546
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011546
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the circulatory connection between atria and ventricles. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Common atrium
systematic_name: M37885
exact_source: HP:0011565
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011565
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Partial atrioventricular canal defect
systematic_name: M48806
exact_source: HP:0011577
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011577
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Unbalanced atrioventricular canal defect
systematic_name: M46206
exact_source: HP:0011579
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011579
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20837915]


description_brief: Abnormal branching pattern of the aortic arch
systematic_name: M37886
exact_source: HP:0011587
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011587
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Double aortic arch
systematic_name: M37887
exact_source: HP:0011590
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011590
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:15148283, PMID:15564538]


description_brief: Interrupted aortic arch
systematic_name: M37889
exact_source: HP:0011611
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011611
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Non-continuity of the arch of aorta with an atretic point or absent segment. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Abnormality of abdominal situs
systematic_name: M37890
exact_source: HP:0011620
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011620
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Muscular ventricular septal defect
systematic_name: M41420
exact_source: HP:0011623
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011623
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. [HPO_CONTRIBUTOR:DDD_dbrown, PMID:17101870]


description_brief: Abnormal coronary artery origin
systematic_name: M46207
exact_source: HP:0011636
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011636
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Patent ductus arteriosus after birth at term
systematic_name: M47186
exact_source: HP:0011648
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011648
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Tricuspid atresia
systematic_name: M37891
exact_source: HP:0011662
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011662
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Right ventricular cardiomyopathy
systematic_name: M37892
exact_source: HP:0011663
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011663
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. [https://orcid.org/0000-0002-0736-9199, PMID:17916581]


description_brief: Left ventricular noncompaction cardiomyopathy
systematic_name: M43411
exact_source: HP:0011664
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011664
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. [PMID:17916581]


description_brief: Left superior vena cava draining to coronary sinus
systematic_name: M46208
exact_source: HP:0011670
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011670
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. [PMID:18847480]


description_brief: Interrupted inferior vena cava with azygous continuation
systematic_name: M47187
exact_source: HP:0011671
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011671
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10550884]


description_brief: Perimembranous ventricular septal defect
systematic_name: M37893
exact_source: HP:0011682
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011682
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. [HPO_CONTRIBUTOR:DDD_dbrown, PMID:10798413]


description_brief: AV nodal tachycardia
systematic_name: M46209
exact_source: HP:0011687
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011687
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of supraventricular tachycardia that originates in the atrioventricular node. [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20733110]


description_brief: Abnormal electrophysiology of sinoatrial node origin
systematic_name: M37895
exact_source: HP:0011702
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011702
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sick sinus syndrome
systematic_name: M37897
exact_source: HP:0011704
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011704
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. [PMID:17420362]


description_brief: First degree atrioventricular block
systematic_name: M37898
exact_source: HP:0011705
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011705
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Second degree atrioventricular block
systematic_name: M37899
exact_source: HP:0011706
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011706
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Bundle branch block
systematic_name: M37900
exact_source: HP:0011710
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011710
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Left anterior fascicular block
systematic_name: M37901
exact_source: HP:0011711
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011711
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Conduction block in the anterior division of the left bundle branch of the bundle of His. [HPO_CONTRIBUTOR:DDD_dbrown]


description_brief: Right bundle branch block
systematic_name: M37902
exact_source: HP:0011712
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011712
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Left bundle branch block
systematic_name: M37903
exact_source: HP:0011713
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011713
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Junctional ectopic tachycardia
systematic_name: M47188
exact_source: HP:0011716
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011716
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. [PMID:22826742]


description_brief: Abnormality of joint mobility
systematic_name: M47189
exact_source: HP:0011729
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011729
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in the range and ease of motion of joints across their normal range. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal central sensory function
systematic_name: M37907
exact_source: HP:0011730
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011730
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. [https://orcid.org/0000-0002-0736-9199]


description_brief: Central adrenal insufficiency
systematic_name: M37910
exact_source: HP:0011734
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011734
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. [https://orcid.org/0000-0002-0538-4547]


description_brief: Adrenocorticotropin deficient adrenal insufficiency
systematic_name: M37911
exact_source: HP:0011735
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011735
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Adrenal insufficiency secondary to a defect in ACTH production. [https://orcid.org/0000-0002-0538-4547]


description_brief: Primary hyperaldosteronism
systematic_name: M37912
exact_source: HP:0011736
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011736
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hyperaldosteronism caused by a defect within the adrenal gland. [https://orcid.org/0000-0002-0538-4547]


description_brief: Dexamethasone-suppressible primary hyperaldosteronism
systematic_name: M47190
exact_source: HP:0011739
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011739
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Glucocortocoid-insensitive primary hyperaldosteronism
systematic_name: M43412
exact_source: HP:0011740
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011740
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Adrenocorticotropic hormone deficiency
systematic_name: M37913
exact_source: HP:0011748
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011748
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. [https://orcid.org/0000-0002-0538-4547]


description_brief: Adrenocorticotropic hormone excess
systematic_name: M37914
exact_source: HP:0011749
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011749
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. [https://orcid.org/0000-0002-0538-4547]


description_brief: Abnormal posterior pituitary morphogenesis
systematic_name: M37915
exact_source: HP:0011751
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011751
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Posterior pituitary dysgenesis
systematic_name: M37916
exact_source: HP:0011753
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011753
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal development of the neurohypophysis during embryonic growth and development. [https://orcid.org/0000-0002-0538-4547]


description_brief: Abnormal parathyroid morphology
systematic_name: M37918
exact_source: HP:0011766
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011766
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the parathyroid gland. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Central hypothyroidism
systematic_name: M37922
exact_source: HP:0011787
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011787
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. [https://orcid.org/0000-0002-0538-4547, PMID:18415684]


description_brief: Neoplasm by histology
systematic_name: M37923
exact_source: HP:0011792
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011792
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Neoplasm categorized according to type of histological abnormality. [https://orcid.org/0000-0002-9113-2978]


description_brief: Embryonal renal neoplasm
systematic_name: M48807
exact_source: HP:0011794
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011794
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an embryonal neoplasm of the kidney that primarily affects children. [https://orcid.org/0000-0002-9113-2978]


description_brief: Midface retrusion
systematic_name: M37926
exact_source: HP:0011800
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011800
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. [https://orcid.org/0000-0002-9602-2321, PMID:19125436]


description_brief: Hamartoma of tongue
systematic_name: M37927
exact_source: HP:0011802
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011802
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. [https://orcid.org/0000-0002-0736-9199, PMID:17667541]


description_brief: Bifid nose
systematic_name: M37928
exact_source: HP:0011803
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011803
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. [PMID:19152422]


description_brief: Type 1 muscle fiber atrophy
systematic_name: M37929
exact_source: HP:0011807
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011807
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased patellar reflex
systematic_name: M37930
exact_source: HP:0011808
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011808
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased intensity of the patellar reflex (also known as the knee jerk reflex). [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased cerebral lipofuscin
systematic_name: M37931
exact_source: HP:0011813
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011813
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [https://orcid.org/0000-0002-0736-9199, PMID:9531959]


description_brief: Submucous cleft soft palate
systematic_name: M37932
exact_source: HP:0011819
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011819
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal facial skeleton morphology
systematic_name: M37933
exact_source: HP:0011821
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011821
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of one or more of the set of bones that make up the facial skeleton. [https://orcid.org/0000-0002-2972-5481]


description_brief: Broad chin
systematic_name: M37934
exact_source: HP:0011822
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011822
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. [PMID:19125436]


description_brief: Chin with horizontal crease
systematic_name: M41422
exact_source: HP:0011823
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011823
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. [PMID:19125436]


description_brief: Moyamoya phenomenon
systematic_name: M37936
exact_source: HP:0011834
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011834
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sclerodactyly
systematic_name: M47193
exact_source: HP:0011838
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011838
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Localized thickening and tightness of the skin of the fingers or toes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abdominal colic
systematic_name: M46211
exact_source: HP:0011848
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011848
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. []


description_brief: Pica
systematic_name: M46212
exact_source: HP:0011856
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011856
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. [https://orcid.org/0000-0002-0736-9199]


description_brief: Punctate keratitis
systematic_name: M45446
exact_source: HP:0011859
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011859
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal sternal ossification
systematic_name: M37938
exact_source: HP:0011863
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011863
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly in the formation of the bony substance of the sternum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal iliac wing morphology
systematic_name: M37939
exact_source: HP:0011867
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011867
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired arachidonic acid-induced platelet aggregation
systematic_name: M48809
exact_source: HP:0011870
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011870
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. [https://orcid.org/0000-0002-7744-1790]


description_brief: Impaired ristocetin-induced platelet aggregation
systematic_name: M37941
exact_source: HP:0011871
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011871
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. [https://orcid.org/0000-0002-7744-1790]


description_brief: Abnormal platelet volume
systematic_name: M37944
exact_source: HP:0011876
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011876
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased mean platelet volume
systematic_name: M47196
exact_source: HP:0011877
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011877
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Average platelet volume above the upper limit of the normal reference interval. [https://orcid.org/0000-0002-7744-1790]


description_brief: Abnormal platelet membrane protein expression
systematic_name: M37945
exact_source: HP:0011878
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011878
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. [https://orcid.org/0000-0002-7744-1790]


description_brief: Abnormal platelet granules
systematic_name: M37946
exact_source: HP:0011883
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011883
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of alpha or dense granules or platelet lysosomes. [https://orcid.org/0000-0002-7744-1790, PMID:18041654]


description_brief: Abnormal umbilical stump bleeding
systematic_name: M37947
exact_source: HP:0011884
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011884
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. [https://orcid.org/0000-0003-2945-4463]


description_brief: Bleeding with minor or no trauma
systematic_name: M37949
exact_source: HP:0011889
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011889
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Significant bleeding or hemorrhage without significant precipitating factor. [https://orcid.org/0000-0002-4381-2442]


description_brief: Prolonged bleeding following procedure
systematic_name: M37950
exact_source: HP:0011890
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011890
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Prolonged or protracted bleeding following an invasive procedure or intervention. [https://orcid.org/0000-0003-2945-4463]


description_brief: Post-partum hemorrhage
systematic_name: M37951
exact_source: HP:0011891
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011891
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Significant maternal hemorrhage/blood loss following deilvery of a child. [https://orcid.org/0000-0003-2945-4463]


description_brief: Abnormal leukocyte count
systematic_name: M37952
exact_source: HP:0011893
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011893
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Number of leukocytes per volume of blood beyond normal limits. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anemia due to reduced life span of red cells
systematic_name: M46213
exact_source: HP:0011895
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011895
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. [https://orcid.org/0000-0003-2945-4463]


description_brief: Abnormality of circulating fibrinogen
systematic_name: M37954
exact_source: HP:0011898
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011898
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the level of activity of circulating fibrinogen. [https://orcid.org/0000-0003-2945-4463]


description_brief: Abnormal hemoglobin
systematic_name: M37955
exact_source: HP:0011902
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011902
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Persistence of hemoglobin F
systematic_name: M37956
exact_source: HP:0011904
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011904
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the glenoid fossa
systematic_name: M41425
exact_source: HP:0011912
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011912
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal activity of mitochondrial respiratory chain
systematic_name: M47198
exact_source: HP:0011922
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011922
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased or decreased activity of the mitochondrial respiratory chain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased activity of mitochondrial complex I
systematic_name: M37959
exact_source: HP:0011923
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011923
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased activity of mitochondrial complex III
systematic_name: M37960
exact_source: HP:0011924
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011924
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased activity of mitochondrial ATP synthase complex
systematic_name: M46215
exact_source: HP:0011925
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011925
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short digit
systematic_name: M37961
exact_source: HP:0011927
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011927
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. [https://orcid.org/0000-0002-0736-9199]


description_brief: 3-4 finger cutaneous syndactyly
systematic_name: M46216
exact_source: HP:0011939
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011939
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A soft tissue continuity in the A/P axis between fingers 3 and 4. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent acute respiratory tract infection
systematic_name: M37966
exact_source: HP:0011948
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011948
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A history of repeated acute infections of the upper or lower respiratory tract. [HPO_CONTRIBUTOR:DDD_tkuijpers]


description_brief: Aspiration pneumonia
systematic_name: M37969
exact_source: HP:0011951
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011951
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Nodular regenerative hyperplasia of liver
systematic_name: M48810
exact_source: HP:0011954
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011954
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. [PMID:21472097]


description_brief: Non-obstructive azoospermia
systematic_name: M48811
exact_source: HP:0011961
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011961
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [https://orcid.org/0000-0002-0736-9199, PMID:20514278]


description_brief: Obstructive azoospermia
systematic_name: M37973
exact_source: HP:0011962
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011962
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [https://orcid.org/0000-0002-0736-9199, PMID:20514278]


description_brief: Abnormal circulating citrulline concentration
systematic_name: M37974
exact_source: HP:0011965
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011965
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of citrulline in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Feeding difficulties
systematic_name: M37975
exact_source: HP:0011968
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011968
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. [https://orcid.org/0000-0002-6647-5493]


description_brief: Elevated circulating luteinizing hormone level
systematic_name: M46217
exact_source: HP:0011969
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011969
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevated concentration of luteinizing hormone in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cerebral amyloid angiopathy
systematic_name: M37976
exact_source: HP:0011970
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011970
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. [https://orcid.org/0000-0002-0736-9199, PMID:21519520]


description_brief: Elevated urinary catecholamine level
systematic_name: M47199
exact_source: HP:0011976
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011976
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated urinary homovanillic acid
systematic_name: M48812
exact_source: HP:0011977
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011977
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of homovanillic acid in the urine. [https://orcid.org/0000-0002-0736-9199, PMID:27830764]


description_brief: Elevated urinary vanillylmandelic acid
systematic_name: M48813
exact_source: HP:0011978
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011978
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of vanillylmandelic acid in the urine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal neutrophil count
systematic_name: M37981
exact_source: HP:0011991
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011991
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal range of neutrophil cell counts in the circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Postprandial hyperglycemia
systematic_name: M37984
exact_source: HP:0011998
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011998
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of glucose in the blood following a meal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Paranoia
systematic_name: M37985
exact_source: HP:0011999
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0011999
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inappropriate feeling of being persecuted or being the subject of hostility from others. [PMID:34618805]


description_brief: EEG with generalized polyspikes
systematic_name: M45448
exact_source: HP:0012001
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012001
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. [HPO_CONTRIBUTOR:jalbers]


description_brief: Deja vu aura
systematic_name: M48814
exact_source: HP:0012005
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012005
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A subjective feeling that an experience which is occurring for the first time has been experienced before. [https://orcid.org/0000-0002-0736-9199]


description_brief: EEG with frontal focal spikes
systematic_name: M48815
exact_source: HP:0012015
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012015
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. [HPO_CONTRIBUTOR:jalbers]


description_brief: Abnormal circulating ornithine concentration
systematic_name: M47201
exact_source: HP:0012025
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012025
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deviation from the normal concentration of ornithine in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Laryngeal edema
systematic_name: M46218
exact_source: HP:0012027
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012027
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal accumulation of fluid and swelling in the tissues of the larynx. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hepatocellular adenoma
systematic_name: M37988
exact_source: HP:0012028
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012028
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign tumor of the liver of presumably epithelial origin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lipoma
systematic_name: M37990
exact_source: HP:0012032
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012032
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. [MPATH:417]


description_brief: Corneal guttata
systematic_name: M46219
exact_source: HP:0012038
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012038
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. [https://orcid.org/0000-0002-0736-9199, PMID:10611102, PMID:11222329]


description_brief: Corneal stromal edema
systematic_name: M37991
exact_source: HP:0012040
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012040
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal accumulation of fluid and swelling of the stroma of cornea. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pendular nystagmus
systematic_name: M37993
exact_source: HP:0012043
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012043
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Seesaw nystagmus
systematic_name: M41429
exact_source: HP:0012044
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012044
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retinal flecks
systematic_name: M37994
exact_source: HP:0012045
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012045
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. [PMID:7952338]


description_brief: Hemeralopia
systematic_name: M37995
exact_source: HP:0012047
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012047
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. [https://orcid.org/0000-0002-0736-9199]


description_brief: Oromandibular dystonia
systematic_name: M37996
exact_source: HP:0012048
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012048
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. [https://orcid.org/0000-0002-0736-9199]


description_brief: Laryngeal dystonia
systematic_name: M37997
exact_source: HP:0012049
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012049
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anasarca
systematic_name: M43415
exact_source: HP:0012050
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012050
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reactive hypoglycemia
systematic_name: M43416
exact_source: HP:0012051
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012051
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypoglycermia following a meal (or more generally, after intake of glucose). [https://orcid.org/0000-0002-0736-9199]


description_brief: Low serum calcitriol
systematic_name: M37998
exact_source: HP:0012052
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012052
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating acylcarnitine concentration
systematic_name: M38001
exact_source: HP:0012071
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012071
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 acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. [https://orcid.org/0000-0002-0736-9199, PMID:18281923, PMID:23258903, PMID:6348429]


description_brief: Personality disorder
systematic_name: M38002
exact_source: HP:0012075
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012075
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society. []


description_brief: Enlarged cerebellum
systematic_name: M41430
exact_source: HP:0012081
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012081
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased size of the cerebellum compared to other brain structures. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal urinary color
systematic_name: M43418
exact_source: HP:0012086
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012086
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal mitochondrial shape
systematic_name: M43419
exact_source: HP:0012087
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012087
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly in the surface contour of mitochondria. [https://orcid.org/0000-0002-0736-9199, MP:0011633]


description_brief: Abnormality of exocrine pancreas physiology
systematic_name: M38006
exact_source: HP:0012092
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012092
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Edema of the dorsum of feet
systematic_name: M41432
exact_source: HP:0012098
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012098
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal accumulation of fluid beneath the skin on the back of the feet. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal mitochondrial number
systematic_name: M41433
exact_source: HP:0012102
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012102
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal number of mitochondria per cell. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the mitochondrion
systematic_name: M38010
exact_source: HP:0012103
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012103
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. [https://orcid.org/0000-0002-0736-9199]


description_brief: Open angle glaucoma
systematic_name: M38012
exact_source: HP:0012108
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012108
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, [https://orcid.org/0000-0002-0736-9199, PMID:11815354]


description_brief: Angle closure glaucoma
systematic_name: M45450
exact_source: HP:0012109
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012109
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:11815354]


description_brief: Abnormality of circulating glucocorticoid level
systematic_name: M38014
exact_source: HP:0012111
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012111
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the concentration of a glucocorticoid in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating creatine concentration
systematic_name: M47202
exact_source: HP:0012113
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012113
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating albumin concentration
systematic_name: M47203
exact_source: HP:0012116
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012116
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deviation from normal concentration of albumin in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Methemoglobinemia
systematic_name: M43420
exact_source: HP:0012119
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012119
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anterior uveitis
systematic_name: M38018
exact_source: HP:0012122
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012122
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. [https://orcid.org/0000-0002-0736-9199]


description_brief: Posterior uveitis
systematic_name: M38019
exact_source: HP:0012123
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012123
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal erythroid lineage cell morphology
systematic_name: M48819
exact_source: HP:0012130
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012130
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. [https://orcid.org/0000-0003-2945-4463]


description_brief: Abnormal number of erythroid precursors
systematic_name: M38021
exact_source: HP:0012131
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012131
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [https://orcid.org/0000-0003-2945-4463]


description_brief: Erythroid hyperplasia
systematic_name: M38022
exact_source: HP:0012132
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012132
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [https://orcid.org/0000-0003-2945-4463]


description_brief: Erythroid hypoplasia
systematic_name: M38023
exact_source: HP:0012133
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012133
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [https://orcid.org/0000-0003-2945-4463]


description_brief: Abnormal granulocytopoietic cell morphology
systematic_name: M38024
exact_source: HP:0012135
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012135
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. [https://orcid.org/0000-0003-2945-4463]


description_brief: Abnormal megakaryocyte morphology
systematic_name: M38025
exact_source: HP:0012143
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012143
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. []


description_brief: Abnormality of von Willebrand factor
systematic_name: M38027
exact_source: HP:0012146
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012146
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. [https://orcid.org/0000-0003-2945-4463]


description_brief: Single lineage myelodysplasia
systematic_name: M45451
exact_source: HP:0012150
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012150
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). [https://orcid.org/0000-0003-2945-4463]


description_brief: Hemophagocytosis
systematic_name: M38029
exact_source: HP:0012156
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012156
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. [https://orcid.org/0000-0002-0736-9199, PMID:25328776]


description_brief: Subcortical cerebral atrophy
systematic_name: M38030
exact_source: HP:0012157
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012157
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. [https://orcid.org/0000-0002-0736-9199, PMID:20813998]


description_brief: Carotid artery dilatation
systematic_name: M45452
exact_source: HP:0012163
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012163
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Asterixis
systematic_name: M41436
exact_source: HP:0012164
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012164
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. [https://orcid.org/0000-0002-0736-9199]


description_brief: Oligodactyly
systematic_name: M38031
exact_source: HP:0012165
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012165
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect resulting in the presence of fewer than the normal number of digits. [https://orcid.org/0000-0002-0736-9199]


description_brief: Skin-picking
systematic_name: M41437
exact_source: HP:0012166
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012166
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Repetitive and compulsive picking of skin which results in tissue damage. [https://orcid.org/0000-0002-0736-9199, PMID:20575652]


description_brief: Hair-pulling
systematic_name: M46224
exact_source: HP:0012167
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012167
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss. [https://orcid.org/0000-0002-0736-9199]


description_brief: Stereotypical hand wringing
systematic_name: M48820
exact_source: HP:0012171
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012171
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement. [PMID:28838622]


description_brief: Glioblastoma multiforme
systematic_name: M38033
exact_source: HP:0012174
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012174
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. [https://orcid.org/0000-0002-0736-9199, NCIT:C3058, PMID:10841526]


description_brief: Abnormal natural killer cell morphology
systematic_name: M38034
exact_source: HP:0012176
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012176
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. [https://orcid.org/0000-0002-0736-9199, PMID:21212348]


description_brief: Reduced natural killer cell activity
systematic_name: M47205
exact_source: HP:0012178
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012178
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability of the natural killer cell to function in the adaptive immune response. [https://orcid.org/0000-0002-0736-9199]


description_brief: Entrapment neuropathy
systematic_name: M38036
exact_source: HP:0012181
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012181
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. [https://orcid.org/0000-0002-0736-9199]


description_brief: Oropharyngeal squamous cell carcinoma
systematic_name: M46226
exact_source: HP:0012182
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012182
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A squamous cell carcinoma that originates in the oropharnyx. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased erythrocyte protoporphyrin concentration
systematic_name: M47206
exact_source: HP:0012187
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012187
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of protoporphyrins in erythrocytes above the upper limit of normal. [https://orcid.org/0000-0002-0736-9199, PMID:18760763]


description_brief: Hodgkin lymphoma
systematic_name: M38037
exact_source: HP:0012189
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012189
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Insulinoma
systematic_name: M38040
exact_source: HP:0012197
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012197
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. [https://orcid.org/0000-0002-0736-9199, NCIT:C95598]


description_brief: Abnormality of prothrombin
systematic_name: M38041
exact_source: HP:0012200
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012200
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. [https://orcid.org/0000-0002-0736-9199]


description_brief: Onychomycosis
systematic_name: M38042
exact_source: HP:0012203
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012203
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. [https://orcid.org/0000-0002-0736-9199]


description_brief: Globozoospermia
systematic_name: M46227
exact_source: HP:0012205
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012205
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the acrosome resulting in a round sperm head. [https://orcid.org/0000-0002-0736-9199, MP:0002686]


description_brief: Juvenile myelomonocytic leukemia
systematic_name: M38045
exact_source: HP:0012209
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012209
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. [https://orcid.org/0000-0002-0736-9199, PMID:18954903]


description_brief: Abnormal glomerular filtration rate
systematic_name: M48822
exact_source: HP:0012212
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012212
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. [https://orcid.org/0000-0002-0736-9199, PMID:25710660]


description_brief: Increased urinary porphobilinogen
systematic_name: M46228
exact_source: HP:0012217
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012217
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. [https://orcid.org/0000-0002-0736-9199, PMID:11861450]


description_brief: Erythema nodosum
systematic_name: M38049
exact_source: HP:0012219
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012219
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. [https://orcid.org/0000-0002-0736-9199]


description_brief: Urethral stricture
systematic_name: M38051
exact_source: HP:0012227
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012227
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Narrowing of the urethra associated with inflammation or scar tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: CSF pleocytosis
systematic_name: M38052
exact_source: HP:0012229
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012229
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased white blood cell count in the cerebrospinal fluid. [https://orcid.org/0000-0002-0736-9199]


description_brief: Rhegmatogenous retinal detachment
systematic_name: M43425
exact_source: HP:0012230
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012230
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Exudative retinal detachment
systematic_name: M43426
exact_source: HP:0012231
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012231
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123]


description_brief: Shortened QT interval
systematic_name: M38053
exact_source: HP:0012232
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012232
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [https://orcid.org/0000-0002-0736-9199]


description_brief: Intramuscular hematoma
systematic_name: M38054
exact_source: HP:0012233
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012233
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Blood clot formed within muscle tissue following leakage of blood into the tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased intramyocellular lipid droplets
systematic_name: M38055
exact_source: HP:0012240
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012240
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. [https://orcid.org/0000-0002-0736-9199, PMID:20691590]


description_brief: Abnormal reproductive system morphology
systematic_name: M47208
exact_source: HP:0012243
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012243
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural or developmental anomaly of any of the tissues involved in the genital system. [https://orcid.org/0000-0002-0736-9199, MP:0002160]


description_brief: Abnormal sex determination
systematic_name: M38057
exact_source: HP:0012244
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012244
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anomaly of primary or secondary sexual development or characteristics. [https://orcid.org/0000-0002-0736-9199, MP:0002210]


description_brief: Sex reversal
systematic_name: M38058
exact_source: HP:0012245
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012245
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Development of the reproductive system is inconsistent with the chromosomal sex. [https://orcid.org/0000-0002-0736-9199, MP:0005652]


description_brief: Oculomotor nerve palsy
systematic_name: M38059
exact_source: HP:0012246
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012246
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). [https://orcid.org/0000-0002-0736-9199]


description_brief: Prolonged PR interval
systematic_name: M38060
exact_source: HP:0012248
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012248
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). [https://orcid.org/0000-0002-0736-9199, PMID:23677846]


description_brief: Abnormal ST segment
systematic_name: M38061
exact_source: HP:0012249
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012249
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. [https://orcid.org/0000-0002-0736-9199]


description_brief: ST segment depression
systematic_name: M41440
exact_source: HP:0012250
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012250
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. [https://orcid.org/0000-0002-0736-9199]


description_brief: ST segment elevation
systematic_name: M41441
exact_source: HP:0012251
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012251
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal respiratory epithelium morphology
systematic_name: M48824
exact_source: HP:0012253
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012253
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. [https://orcid.org/0000-0002-0736-9199, MP:0010942]


description_brief: Dynein arm defect of respiratory motile cilia
systematic_name: M46229
exact_source: HP:0012255
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012255
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. [https://orcid.org/0000-0002-0736-9199, PMID:19606528]


description_brief: Absent outer dynein arms
systematic_name: M46230
exact_source: HP:0012256
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012256
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [https://orcid.org/0000-0002-0736-9199, PMID:19606528]


description_brief: Absent inner dynein arms
systematic_name: M38064
exact_source: HP:0012257
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012257
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [https://orcid.org/0000-0002-5316-1399, PMID:19606528]


description_brief: Absent inner and outer dynein arms
systematic_name: M41442
exact_source: HP:0012259
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012259
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [https://orcid.org/0000-0002-0736-9199, PMID:19606528]


description_brief: Abnormal respiratory motile cilium physiology
systematic_name: M38065
exact_source: HP:0012261
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012261
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any functional anomaly of the respiratory motile cilia. [https://orcid.org/0000-0002-0736-9199, MP:0011055]


description_brief: Digital flexor tenosynovitis
systematic_name: M43427
exact_source: HP:0012276
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012276
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. [https://orcid.org/0000-0002-0736-9199, PMID:16443118]


description_brief: Abnormal circulating serine concentration
systematic_name: M38068
exact_source: HP:0012278
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012278
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal concentration of serine in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neoplasm of head and neck
systematic_name: M38071
exact_source: HP:0012288
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012288
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 head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. [https://orcid.org/0000-0002-0736-9199]


description_brief: Type II transferrin isoform profile
systematic_name: M38073
exact_source: HP:0012301
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012301
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. [https://orcid.org/0000-0002-0736-9199, PMID:15105360, PMID:22516080]


description_brief: Herpes simplex encephalitis
systematic_name: M38074
exact_source: HP:0012302
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012302
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. [https://orcid.org/0000-0002-0736-9199, PMID:27106239]


description_brief: Cutaneous amyloidosis
systematic_name: M43428
exact_source: HP:0012309
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012309
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of amyloid deposition in the superficial dermis. [https://orcid.org/0000-0002-0736-9199, PMID:19690585]


description_brief: Abnormal monocyte count
systematic_name: M47210
exact_source: HP:0012310
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012310
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Myeloid leukemia
systematic_name: M38079
exact_source: HP:0012324
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012324
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pyelonephritis
systematic_name: M38080
exact_source: HP:0012330
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012330
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. [https://orcid.org/0000-0002-0736-9199]


description_brief: Extrahepatic cholestasis
systematic_name: M38082
exact_source: HP:0012334
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012334
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impairment of bile flow due to obstruction in large bile ducts outside the liver. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of folate metabolism
systematic_name: M43429
exact_source: HP:0012335
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012335
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the metabolism of folic acid, which is also known as vitamin B9. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal glycosylation
systematic_name: M38085
exact_source: HP:0012345
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012345
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal protein glycosylation
systematic_name: M38086
exact_source: HP:0012346
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012346
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal protein O-linked glycosylation
systematic_name: M38087
exact_source: HP:0012358
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012358
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperplasia of midface
systematic_name: M48825
exact_source: HP:0012371
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012371
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face [https://orcid.org/0000-0002-0736-9199, PMID:19125436]


description_brief: Hemianopia
systematic_name: M38090
exact_source: HP:0012377
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012377
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Partial or complete loss of vision in one half of the visual field of one or both eyes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fatigue
systematic_name: M38091
exact_source: HP:0012378
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012378
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A subjective feeling of tiredness characterized by a lack of energy and motivation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Left-to-right shunt
systematic_name: M41445
exact_source: HP:0012382
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012382
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. [https://orcid.org/0000-0001-9114-8737]


description_brief: Bronchitis
systematic_name: M38094
exact_source: HP:0012387
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012387
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anal fissure
systematic_name: M41447
exact_source: HP:0012390
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012390
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyporeflexia of upper limbs
systematic_name: M41448
exact_source: HP:0012391
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012391
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. [https://orcid.org/0000-0002-0736-9199]


description_brief: Allergy
systematic_name: M38095
exact_source: HP:0012393
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012393
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An allergy is an immune response or reaction to substances that are usually not harmful. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aortic atherosclerotic lesion
systematic_name: M38096
exact_source: HP:0012397
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012397
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of atheromas or atherosclerotic plaques in the aorta. [https://orcid.org/0000-0002-0736-9199, PMID:16818829]


description_brief: Peripheral edema
systematic_name: M38097
exact_source: HP:0012398
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012398
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating aldolase concentration
systematic_name: M38098
exact_source: HP:0012400
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012400
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal urine alpha-ketoglutarate concentration
systematic_name: M41449
exact_source: HP:0012401
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012401
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Medullary nephrocalcinosis
systematic_name: M41450
exact_source: HP:0012408
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012408
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). [https://orcid.org/0000-0001-5208-3432]


description_brief: Pure red cell aplasia
systematic_name: M41451
exact_source: HP:0012410
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012410
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Premature pubarche
systematic_name: M38099
exact_source: HP:0012411
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012411
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The onset of growth of pubic hair at an earlier age than normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal blood gas level
systematic_name: M38100
exact_source: HP:0012415
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012415
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Meconium stained amniotic fluid
systematic_name: M43433
exact_source: HP:0012420
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012420
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Amniotic fluid containing the earliest stools of a mammalian infant. [https://orcid.org/0000-0002-0736-9199]


description_brief: Optic disc drusen
systematic_name: M38101
exact_source: HP:0012426
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012426
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. [https://orcid.org/0000-0002-0736-9199, PMID:22787500, PMID:23658477, PMID:30524490]


description_brief: Increased femoral anteversion
systematic_name: M48827
exact_source: HP:0012427
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012427
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-0736-9199, PMID:32579722]


description_brief: Chronic fatigue
systematic_name: M38104
exact_source: HP:0012432
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012432
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. [https://orcid.org/0000-0001-5208-3432]


description_brief: Abnormal myelination
systematic_name: M38108
exact_source: HP:0012447
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012447
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. [https://orcid.org/0000-0002-0736-9199, MP:0000920]


description_brief: Chronic constipation
systematic_name: M38110
exact_source: HP:0012450
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012450
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. [https://orcid.org/0000-0001-5208-3432]


description_brief: Restless legs
systematic_name: M38111
exact_source: HP:0012452
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012452
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia. [PMID:28613628, PMID:34732752, PMID:35808955]


description_brief: Elevated transferrin saturation
systematic_name: M43435
exact_source: HP:0012463
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012463
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An above normal level of saturation of serum transferrin with iron. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated hepatic iron concentration
systematic_name: M48829
exact_source: HP:0012465
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012465
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased level of iron in liver tissues. [https://orcid.org/0000-0002-0736-9199, PMID:10922422, PMID:14668426]


description_brief: Infantile spasms
systematic_name: M38112
exact_source: HP:0012469
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012469
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Infantile spasms represent a subset of \epileptic spasms\. Infantile Spasms are epileptic spasms starting in the first year of life (infancy). [https://orcid.org/0000-0001-8486-0558]


description_brief: Thick vermilion border
systematic_name: M38113
exact_source: HP:0012471
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012471
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased width of the skin of vermilion border region of upper lip. [https://orcid.org/0000-0002-0736-9199]


description_brief: Eclabion
systematic_name: M38114
exact_source: HP:0012472
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012472
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A turning outward of the lip or lips, that is, eversion of the lips. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased specific pneumococcal antibody level
systematic_name: M43436
exact_source: HP:0012476
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012476
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci. [https://orcid.org/0000-0002-0736-9199]


description_brief: Temporomandibular joint ankylosis
systematic_name: M47213
exact_source: HP:0012478
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012478
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. [https://orcid.org/0000-0001-5208-3432]


description_brief: Abnormal alpha granules
systematic_name: M47214
exact_source: HP:0012483
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012483
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. [https://orcid.org/0000-0002-7744-1790, PMID:8467233]


description_brief: Abnormal dense granules
systematic_name: M43437
exact_source: HP:0012484
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012484
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. [https://orcid.org/0000-0002-7744-1790]


description_brief: Descending aortic dissection
systematic_name: M43438
exact_source: HP:0012499
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012499
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. [https://orcid.org/0000-0002-0736-9199]


description_brief: Metamorphopsia
systematic_name: M38122
exact_source: HP:0012508
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012508
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. [https://orcid.org/0000-0002-0736-9199]


description_brief: Extra-axial cerebrospinal fluid accumulation
systematic_name: M43439
exact_source: HP:0012510
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012510
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. [https://orcid.org/0000-0002-0736-9199, PMID:22327705, PMID:23838695]


description_brief: Temporal optic disc pallor
systematic_name: M38123
exact_source: HP:0012511
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012511
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pale yellow discoloration of the temporal (lateral) portion of the optic disc. [https://orcid.org/0000-0002-0736-9199, PMID:19668477]


description_brief: Diffuse optic disc pallor
systematic_name: M43440
exact_source: HP:0012512
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012512
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pale yellow discoloration of the entire optic disc. [https://orcid.org/0000-0002-0736-9199, PMID:19668477]


description_brief: Upper limb pain
systematic_name: M43441
exact_source: HP:0012513
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012513
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 arm. [https://orcid.org/0000-0001-5208-3432]


description_brief: Lower limb pain
systematic_name: M38124
exact_source: HP:0012514
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012514
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 leg. [https://orcid.org/0000-0001-5208-3432]


description_brief: Hip flexor weakness
systematic_name: M38125
exact_source: HP:0012515
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012515
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability to flex the femur, that is, to pull the knee upward. [https://orcid.org/0000-0001-5208-3432]


description_brief: Abnormal circle of Willis morphology
systematic_name: M38126
exact_source: HP:0012518
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012518
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the circle of Willis, also known as the cerebral arterial circle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dilation of Virchow-Robin spaces
systematic_name: M38127
exact_source: HP:0012520
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012520
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. [https://orcid.org/0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639]


description_brief: Spider hemangioma
systematic_name: M43442
exact_source: HP:0012522
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012522
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. [https://orcid.org/0000-0002-0736-9199, PMID:22356347]


description_brief: Oral aversion
systematic_name: M43443
exact_source: HP:0012523
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012523
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). [https://orcid.org/0000-0001-5208-3432]


description_brief: Abnormal number of dense granules
systematic_name: M46234
exact_source: HP:0012530
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012530
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal count of dense granules per thrombocyte. [https://orcid.org/0000-0002-7744-1790]


description_brief: Pain
systematic_name: M38128
exact_source: HP:0012531
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012531
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. [https://orcid.org/0000-0001-5208-3432]


description_brief: Chronic pain
systematic_name: M41456
exact_source: HP:0012532
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012532
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. [https://orcid.org/0000-0002-0736-9199, PMID:1875958]


description_brief: Dysesthesia
systematic_name: M38129
exact_source: HP:0012534
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012534
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. [https://orcid.org/0000-0001-5208-3432]


description_brief: Food intolerance
systematic_name: M38130
exact_source: HP:0012537
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012537
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Non-Hodgkin lymphoma
systematic_name: M38131
exact_source: HP:0012539
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012539
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cephalohematoma
systematic_name: M38132
exact_source: HP:0012541
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012541
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. [https://orcid.org/0000-0001-5208-3432]


description_brief: Elevated circulating aldolase concentration
systematic_name: M45453
exact_source: HP:0012544
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012544
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal. [https://orcid.org/0000-0001-5208-3432]


description_brief: Abnormal involuntary eye movements
systematic_name: M38133
exact_source: HP:0012547
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012547
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anomalous movements of the eyes that occur without the subject wanting them to happen. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fatty replacement of skeletal muscle
systematic_name: M38134
exact_source: HP:0012548
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012548
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199]


description_brief: Mesangial hypercellularity
systematic_name: M48830
exact_source: HP:0012574
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012574
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. [HPO_CONTRIBUTOR:Eurenomics_fschaefer, https://orcid.org/0000-0003-2356-950X, PMID:32866505]


description_brief: Minimal change glomerulonephritis
systematic_name: M38138
exact_source: HP:0012579
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012579
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. [HPO_CONTRIBUTOR:Eurenomics_fschaefer]


description_brief: Steroid-resistant nephrotic syndrome
systematic_name: M38140
exact_source: HP:0012588
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012588
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. [HPO_CONTRIBUTOR:Eurenomics_ewuehl, https://orcid.org/0000-0002-2234-4248, PMID:29910038]


description_brief: Moderate albuminuria
systematic_name: M38143
exact_source: HP:0012594
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012594
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). [HPO_CONTRIBUTOR:Eurenomics_fschaefer, PMID:30571025]


description_brief: Mild proteinuria
systematic_name: M46235
exact_source: HP:0012595
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012595
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Mildly increased levels of protein in the urine (150-500 mg per day in adults). [HPO_CONTRIBUTOR:Eurenomics_eweuehl]


description_brief: Renal sodium wasting
systematic_name: M41459
exact_source: HP:0012606
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012606
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased sodium concentration in the urine in the presence of hyponatremia. [HPO_CONTRIBUTOR:Eurenomics_ewuehl]


description_brief: Multiple bladder diverticula
systematic_name: M46236
exact_source: HP:0012619
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012619
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. [HPO_CONTRIBUTOR:Eurenomics_fschaefer]


description_brief: Chronic kidney disease
systematic_name: M38150
exact_source: HP:0012622
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012622
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Functional anomaly of the kidney persisting for at least three months. [HPO_CONTRIBUTOR:Eurenomics_ewuehl]


description_brief: Abnormal intraocular pressure
systematic_name: M38151
exact_source: HP:0012632
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012632
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased inflammatory response
systematic_name: M47216
exact_source: HP:0012649
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012649
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A abnormal increase in the inflammatory response to injury or infection. [https://orcid.org/0000-0001-9114-8737]


description_brief: Perisylvian polymicrogyria
systematic_name: M41461
exact_source: HP:0012650
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012650
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:15159468, PMID:20301504]


description_brief: Abnormal brain FDG positron emission tomography
systematic_name: M47217
exact_source: HP:0012658
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012658
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced left ventricular ejection fraction
systematic_name: M47218
exact_source: HP:0012664
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012664
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Severely reduced left ventricular ejection fraction
systematic_name: M46237
exact_source: HP:0012666
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012666
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. [https://orcid.org/0000-0002-0736-9199, PMID:16376782, PMID:27206819, PMID:29083812]


description_brief: Abulia
systematic_name: M46238
exact_source: HP:0012671
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012671
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abulia is a severe form of apathy, characterized by difficulty in initiating and sustaining spontaneous movements, as well as reductions in emotional responsiveness, spontaneous speech, and social interaction. []


description_brief: Abnormality of the pineal gland
systematic_name: M38156
exact_source: HP:0012680
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012680
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pineal cyst
systematic_name: M41463
exact_source: HP:0012683
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012683
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. [https://orcid.org/0000-0002-0736-9199, PMID:21801982]


description_brief: Focal T2 hyperintense thalamic lesion
systematic_name: M48833
exact_source: HP:0012692
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012692
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal thalamic MRI signal intensity
systematic_name: M38158
exact_source: HP:0012696
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012696
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal subarachnoid space morphology
systematic_name: M38161
exact_source: HP:0012703
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012703
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Widened subarachnoid space
systematic_name: M38162
exact_source: HP:0012704
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012704
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in size of the anatomic space between the arachnoid membrane and pia mater. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal metabolic brain imaging by MRS
systematic_name: M38163
exact_source: HP:0012705
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012705
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated brain choline level by MRS
systematic_name: M48834
exact_source: HP:0012706
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012706
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Reduced brain N-acetyl aspartate level by MRS
systematic_name: M38164
exact_source: HP:0012708
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012708
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Profound hearing impairment
systematic_name: M38167
exact_source: HP:0012715
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012715
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A profound (essentially complete) form of hearing impairment. [https://orcid.org/0000-0002-0736-9199]


description_brief: Venous malformation
systematic_name: M38169
exact_source: HP:0012721
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012721
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. [https://orcid.org/0000-0002-0736-9199]


description_brief: Heart block
systematic_name: M38170
exact_source: HP:0012722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cutaneous syndactyly
systematic_name: M38171
exact_source: HP:0012725
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012725
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. [https://orcid.org/0000-0002-0736-9199]


description_brief: Episodic hypokalemia
systematic_name: M43446
exact_source: HP:0012726
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012726
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thoracic aortic aneurysm
systematic_name: M38172
exact_source: HP:0012727
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012727
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal localized widening (dilatation) of the thoracic aorta. [https://orcid.org/0000-0002-0736-9199]


description_brief: Macule
systematic_name: M38175
exact_source: HP:0012733
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012733
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ketotic hypoglycemia
systematic_name: M38176
exact_source: HP:0012734
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012734
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Low blood glucose is accompanied by elevated levels of ketone bodies in the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cough
systematic_name: M38177
exact_source: HP:0012735
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012735
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. [https://orcid.org/0000-0002-0736-9199, PMID:16428719, PMID:17540788]


description_brief: Profound global developmental delay
systematic_name: M38178
exact_source: HP:0012736
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012736
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A profound delay in the achievement of motor or mental milestones in the domains of development of a child. [https://orcid.org/0000-0002-6410-0882]


description_brief: Papilloma
systematic_name: M38179
exact_source: HP:0012740
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012740
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor of the skin or mucous membrane with finger-like projections. [https://orcid.org/0000-0002-0736-9199]


description_brief: Unilateral cryptorchidism
systematic_name: M38180
exact_source: HP:0012741
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012741
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short palpebral fissure
systematic_name: M38182
exact_source: HP:0012745
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012745
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. [PMID:19125427]


description_brief: Abnormal brainstem MRI signal intensity
systematic_name: M38183
exact_source: HP:0012747
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012747
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Focal T2 hyperintense brainstem lesion
systematic_name: M38184
exact_source: HP:0012748
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012748
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Abnormal basal ganglia MRI signal intensity
systematic_name: M38185
exact_source: HP:0012751
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012751
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Abnormal neuron morphology
systematic_name: M38186
exact_source: HP:0012757
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012757
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. [HPO_CONTRIBUTOR:KI_phemming, PMID:28723006]


description_brief: Reduced social reciprocity
systematic_name: M48835
exact_source: HP:0012760
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012760
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication. [PMID:28707360]


description_brief: Orthopnea
systematic_name: M38188
exact_source: HP:0012764
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012764
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A sensation of breathlessness in the recumbent position, relieved by sitting or standing. [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Widened cerebellar subarachnoid space
systematic_name: M41465
exact_source: HP:0012765
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012765
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Widened cerebral subarachnoid space
systematic_name: M41466
exact_source: HP:0012766
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012766
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Abnormal arm span
systematic_name: M41467
exact_source: HP:0012769
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012769
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased arm span
systematic_name: M41468
exact_source: HP:0012771
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012771
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). [https://orcid.org/0000-0002-0736-9199]


description_brief: Kinked brainstem
systematic_name: M43447
exact_source: HP:0012793
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012793
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kinked appearance of the brainstem, i.e., an exaggerated flexure. [https://orcid.org/0000-0002-0736-9199, PMID:16301726]


description_brief: Increased cup-to-disc ratio
systematic_name: M41469
exact_source: HP:0012796
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012796
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. [https://orcid.org/0000-0002-0736-9199, PMID:23557744]


description_brief: Narrow jaw
systematic_name: M38195
exact_source: HP:0012801
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012801
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). [https://orcid.org/0000-0002-0736-9199, PMID:19125436]


description_brief: Broad jaw
systematic_name: M38196
exact_source: HP:0012802
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012802
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). [https://orcid.org/0000-0002-0736-9199, PMID:19125436]


description_brief: Corneal ulceration
systematic_name: M38197
exact_source: HP:0012804
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012804
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. [https://orcid.org/0000-0002-0736-9199]


description_brief: Iris transillumination defect
systematic_name: M43448
exact_source: HP:0012805
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012805
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. [https://orcid.org/0000-0002-0736-9199, PMID:19920562]


description_brief: Proboscis
systematic_name: M46239
exact_source: HP:0012806
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012806
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. [https://orcid.org/0000-0002-0736-9199, PMID:19152422]


description_brief: Abnormal nasal base norphology
systematic_name: M38198
exact_source: HP:0012808
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012808
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. [https://orcid.org/0000-0002-0736-9199, PMID:19152422]


description_brief: Hypoplastic female external genitalia
systematic_name: M38201
exact_source: HP:0012815
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012815
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). [https://orcid.org/0000-0002-0736-9199]


description_brief: Noncompaction cardiomyopathy
systematic_name: M38202
exact_source: HP:0012817
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012817
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. [https://orcid.org/0000-0002-0736-9199, PMID:15210614, PMID:24282766]


description_brief: Myocarditis
systematic_name: M45456
exact_source: HP:0012819
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012819
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the myocardium. [https://orcid.org/0000-0002-0736-9199, PMID:21304213, PMID:22185868, PMID:22361396]


description_brief: Retinal vascular tortuosity
systematic_name: M38203
exact_source: HP:0012841
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012841
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an increased number of twists and turns of the retinal blood vessels. [https://orcid.org/0000-0002-0736-9199]


description_brief: Skin appendage neoplasm
systematic_name: M38204
exact_source: HP:0012842
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012842
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. [NCIT:C4463]


description_brief: Hair follicle neoplasm
systematic_name: M48836
exact_source: HP:0012843
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012843
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth. [https://orcid.org/0000-0002-0736-9199, NCIT:C7367]


description_brief: Epilepsia partialis continua
systematic_name: M46240
exact_source: HP:0012847
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012847
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). [HPO_CONTRIBUTOR:UToronto_htrang, https://orcid.org/0000-0002-1735-8178, PMID:26336950]


description_brief: Small intestinal stenosis
systematic_name: M48837
exact_source: HP:0012848
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012848
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The narrowing or partial blockage of a portion of the small intestine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Small intestinal dysmotility
systematic_name: M43449
exact_source: HP:0012850
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012850
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hepatic bridging fibrosis
systematic_name: M45458
exact_source: HP:0012852
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012852
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hepatic fibrosis that reaches from a portal area to another portal area. [https://orcid.org/0000-0002-0736-9199, PMID:14568255]


description_brief: Abnormal scrotal rugation
systematic_name: M43450
exact_source: HP:0012856
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012856
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anomaly of the folded ridges (wrinkles) of skin of the scrotum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ovotestis
systematic_name: M38205
exact_source: HP:0012861
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012861
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A gonad that contains both ovarian follicles and testicular tubular elements. [https://orcid.org/0000-0002-0736-9199]


description_brief: Acephalic spermatozoa
systematic_name: M41471
exact_source: HP:0012869
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012869
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. [https://orcid.org/0000-0002-0736-9199, PMID:10402395]


description_brief: Abnormal labia minora morphology
systematic_name: M38211
exact_source: HP:0012880
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012880
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the labia minora, the folds of skin between the outer labia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal uterine cervix morphology
systematic_name: M38213
exact_source: HP:0012888
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012888
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal motor evoked potentials
systematic_name: M43451
exact_source: HP:0012896
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012896
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. [https://orcid.org/0000-0002-0736-9199, PMID:10402095]


description_brief: Abnormal lower-limb motor evoked potentials
systematic_name: M47223
exact_source: HP:0012898
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012898
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly identified by motor evoked potentials (MEPs) in the leg. [HPO_CONTRIBUTOR:UToronto_htrang]


description_brief: Handgrip myotonia
systematic_name: M38215
exact_source: HP:0012899
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012899
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. [HPO_CONTRIBUTOR:UToronto_htrang, PMID:22987687]


description_brief: Euryblepharon
systematic_name: M38216
exact_source: HP:0012905
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0012905
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. [https://orcid.org/0000-0002-0736-9199, PMID:15249382, PMID:15530943, PMID:24719364]


description_brief: Esodeviation
systematic_name: M38217
exact_source: HP:0020045
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020045
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. [https://orcid.org/0000-0003-0986-4123]


description_brief: Exodeviation
systematic_name: M38218
exact_source: HP:0020049
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020049
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. [https://orcid.org/0000-0003-0986-4123]


description_brief: Hypopigmented macule
systematic_name: M38220
exact_source: HP:0020073
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020073
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. [PMID:24023426]


description_brief: Infection following live vaccination
systematic_name: M45459
exact_source: HP:0020085
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020085
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens. []


description_brief: BCGitis
systematic_name: M46242
exact_source: HP:0020086
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020086
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. [PMID:24722620]


description_brief: BCGosis
systematic_name: M45460
exact_source: HP:0020087
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020087
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. [PMID:21412596, PMID:24722620]


description_brief: Recurrent streptococcal infections
systematic_name: M45461
exact_source: HP:0020096
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020096
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections. []


description_brief: Unusual fungal infection
systematic_name: M41474
exact_source: HP:0020100
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020100
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent. []


description_brief: Pneumocystis jirovecii pneumonia
systematic_name: M47224
exact_source: HP:0020102
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020102
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. [PMID:26281787]


description_brief: Hypoplastic dermoepidermal hemidesmosomes
systematic_name: M41476
exact_source: HP:0020117
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020117
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. [PMID:11851880, PMID:25487405]


description_brief: Abnormal sarcomere morphology
systematic_name: M38225
exact_source: HP:0020201
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020201
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks. []


description_brief: Abnormal Z disk morphology
systematic_name: M43454
exact_source: HP:0020202
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020202
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. [PMID:22028589]


description_brief: Visually-induced seizure
systematic_name: M46243
exact_source: HP:0020216
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020216
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. [https://orcid.org/0000-0002-1735-8178, PMID:11422340]


description_brief: Motor seizure
systematic_name: M38226
exact_source: HP:0020219
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020219
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. 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:28276060]


description_brief: Clonic seizure
systematic_name: M38227
exact_source: HP:0020221
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0020221
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. [https://orcid.org/0000-0002-1735-8178, PMID:11580774]


description_brief: Decerebrate rigidity
systematic_name: M43456
exact_source: HP:0025013
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025013
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. [https://orcid.org/0000-0002-0003-6754]


description_brief: Capillary fragility
systematic_name: M46244
exact_source: HP:0025017
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025017
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises). []


description_brief: Abnormal capillary physiology
systematic_name: M46245
exact_source: HP:0025018
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025018
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. []


description_brief: Arterial rupture
systematic_name: M41478
exact_source: HP:0025019
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025019
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sudden breakage of an artery leading to leakage of blood from the circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal erythrocyte sedimentation rate
systematic_name: M41479
exact_source: HP:0025021
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025021
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. [PMID:10524488]


description_brief: Abnormal brain lactate level by MRS
systematic_name: M38230
exact_source: HP:0025045
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025045
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). []


description_brief: Abnormal brain N-acetyl aspartate level by MRS
systematic_name: M38231
exact_source: HP:0025052
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025052
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). []


description_brief: Abnormal olfactory lobe morphology
systematic_name: M38232
exact_source: HP:0025057
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025057
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. []


description_brief: Abnormal mean corpuscular volume
systematic_name: M38233
exact_source: HP:0025065
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025065
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. []


description_brief: Decreased mean corpuscular volume
systematic_name: M38234
exact_source: HP:0025066
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025066
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). []


description_brief: Abnormal U wave
systematic_name: M46246
exact_source: HP:0025070
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025070
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3. [PMID:22665396]


description_brief: Abnormal QRS complex
systematic_name: M46247
exact_source: HP:0025074
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025074
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. []


description_brief: Orthokeratotic hyperkeratosis
systematic_name: M43457
exact_source: HP:0025080
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025080
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. []


description_brief: Folliculitis
systematic_name: M38236
exact_source: HP:0025084
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025084
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. []


description_brief: Epidermal acanthosis
systematic_name: M38238
exact_source: HP:0025092
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025092
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). []


description_brief: Capillary malformation
systematic_name: M38240
exact_source: HP:0025104
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025104
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). [PMID:22483320, PMID:25864701]


description_brief: Fetal distress
systematic_name: M38243
exact_source: HP:0025116
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025116
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. []


description_brief: White lesion of the oral mucosa
systematic_name: M48839
exact_source: HP:0025125
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025125
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. []


description_brief: Finger swelling
systematic_name: M38244
exact_source: HP:0025131
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025131
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of the soft tissues of one or more fingers. [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244]


description_brief: Constitutional symptom
systematic_name: M38246
exact_source: HP:0025142
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025142
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. []


description_brief: Hyperautofluorescent retinal lesion
systematic_name: M41484
exact_source: HP:0025158
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025158
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. []


description_brief: Hypoautofluorescent retinal lesion
systematic_name: M43458
exact_source: HP:0025159
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025159
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. []


description_brief: Abnormal temper tantrums
systematic_name: M38249
exact_source: HP:0025160
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025160
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums. []


description_brief: Frequent temper tantrums
systematic_name: M46249
exact_source: HP:0025161
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025161
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process. []


description_brief: Severe temper tantrums
systematic_name: M46250
exact_source: HP:0025162
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025162
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process. []


description_brief: Abnormal optic chiasm morphology
systematic_name: M46251
exact_source: HP:0025163
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025163
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. []


description_brief: Fragmented elastic fibers in the dermis
systematic_name: M47230
exact_source: HP:0025167
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025167
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. []


description_brief: Left ventricular diastolic dysfunction
systematic_name: M46252
exact_source: HP:0025168
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025168
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal function of the left ventricule during left ventricular relaxation and filling. [PMID:12527689, PMID:14594874]


description_brief: Left ventricular systolic dysfunction
systematic_name: M38250
exact_source: HP:0025169
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025169
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. []


description_brief: Marcus Gunn jaw winking synkinesis
systematic_name: M47231
exact_source: HP:0025186
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025186
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. [PMID:23345532, PMID:25754805]


description_brief: Bilateral tonic-clonic seizure with generalized onset
systematic_name: M38251
exact_source: HP:0025190
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025190
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275]


description_brief: Abnormal circulating apolipoprotein concentration
systematic_name: M41486
exact_source: HP:0025201
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025201
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. []


description_brief: Parasomnia
systematic_name: M43459
exact_source: HP:0025234
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025234
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep. [PMID:35956054]


description_brief: Somnambulism
systematic_name: M48841
exact_source: HP:0025236
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025236
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated. [PMID:30458142, PMID:32644427]


description_brief: Confusional arousal
systematic_name: M43461
exact_source: HP:0025237
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025237
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings. [PMID:35985125]


description_brief: Cutaneous cyst
systematic_name: M38252
exact_source: HP:0025245
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025245
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material. []


description_brief: Dermoid cyst
systematic_name: M38253
exact_source: HP:0025247
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025247
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. []


description_brief: Stiff neck
systematic_name: M46253
exact_source: HP:0025258
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025258
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. []


description_brief: Snoring
systematic_name: M38254
exact_source: HP:0025267
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025267
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. [PMID:35216759]


description_brief: Stuttering
systematic_name: M38255
exact_source: HP:0025268
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025268
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds. []


description_brief: Malar rash
systematic_name: M38258
exact_source: HP:0025300
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025300
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. []


description_brief: Esophoria
systematic_name: M46255
exact_source: HP:0025312
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025312
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. []


description_brief: Exophoria
systematic_name: M46256
exact_source: HP:0025313
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025313
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. []


description_brief: Delayed ability to stand
systematic_name: M41488
exact_source: HP:0025335
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025335
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. [PMID:23321410, PMID:27354457]


description_brief: Delayed ability to sit
systematic_name: M38262
exact_source: HP:0025336
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025336
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. [PMID:23321410, PMID:27354457]


description_brief: Red eye
systematic_name: M48842
exact_source: HP:0025337
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025337
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. []


description_brief: Lupus anticoagulant
systematic_name: M38264
exact_source: HP:0025343
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025343
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. [PMID:27331311]


description_brief: Typically de novo
systematic_name: M41489
exact_source: HP:0025352
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025352
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals. [PMID:22805709]


description_brief: Erratic myoclonus
systematic_name: M46259
exact_source: HP:0025357
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025357
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. []


description_brief: Interictal EEG abnormality
systematic_name: M38268
exact_source: HP:0025373
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025373
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. [PMID:15961864, PMID:25012363]


description_brief: Pill-rolling tremor
systematic_name: M45466
exact_source: HP:0025387
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025387
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. []


description_brief: Pulmonary interstitial high-resolution computed tomography abnormality
systematic_name: M38269
exact_source: HP:0025389
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025389
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. [PMID:23247773]


description_brief: Abnormal visual fixation
systematic_name: M38272
exact_source: HP:0025404
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025404
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. []


description_brief: Visual fixation instability
systematic_name: M38273
exact_source: HP:0025405
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025405
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deficit in the ability to fixate eye movements in order to stabilize images on the retina [PMID:28242738]


description_brief: Asthenia
systematic_name: M43463
exact_source: HP:0025406
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025406
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. []


description_brief: Diffuse alveolar hemorrhage
systematic_name: M38274
exact_source: HP:0025420
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025420
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. [PMID:23678356]


description_brief: Abnormal bronchus morphology
systematic_name: M38278
exact_source: HP:0025426
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025426
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. []


description_brief: Abnormal cry
systematic_name: M38280
exact_source: HP:0025429
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025429
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. []


description_brief: Reduced circulating CH50 activity
systematic_name: M47234
exact_source: HP:0025434
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025434
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. [PMID:20351687]


description_brief: Elevated serum 11-deoxycortisol
systematic_name: M46260
exact_source: HP:0025436
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025436
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. []


description_brief: Testicular adrenal rest tumor
systematic_name: M43465
exact_source: HP:0025451
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025451
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. [PMID:19956703]


description_brief: Pyoderma gangrenosum
systematic_name: M38284
exact_source: HP:0025452
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025452
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. [PMID:16858047]


description_brief: Abnormal circulating beta globulin level
systematic_name: M38288
exact_source: HP:0025465
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025465
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood. []


description_brief: Hyperpigmented papule
systematic_name: M45468
exact_source: HP:0025473
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025473
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A papule (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 exhibits increased pigmentation (is darker) compared to the surrounding skin. []


description_brief: Erythematous plaque
systematic_name: M41491
exact_source: HP:0025474
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025474
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. []


description_brief: Atrial standstill
systematic_name: M38289
exact_source: HP:0025478
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025478
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram. [PMID:23074623]


description_brief: Abnormal circulating thyroglobulin concentration
systematic_name: M43466
exact_source: HP:0025483
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025483
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. []


description_brief: Increased circulating thyroglobulin concentration
systematic_name: M46261
exact_source: HP:0025484
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025484
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. []


description_brief: Palmoplantar erythema
systematic_name: M46262
exact_source: HP:0025493
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025493
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. []


description_brief: Morning glory anomaly
systematic_name: M38292
exact_source: HP:0025514
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025514
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. []


description_brief: Psoriasiform lesion
systematic_name: M47235
exact_source: HP:0025526
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025526
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. []


description_brief: Abnormal mean corpuscular hemoglobin concentration
systematic_name: M38295
exact_source: HP:0025546
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025546
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. []


description_brief: Decreased mean corpuscular hemoglobin concentration
systematic_name: M38296
exact_source: HP:0025547
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025547
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. []


description_brief: Increased mean corpuscular hemoglobin concentration
systematic_name: M38297
exact_source: HP:0025548
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025548
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). []


description_brief: Optic nerve misrouting
systematic_name: M41494
exact_source: HP:0025551
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025551
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). []


description_brief: Periorbital ecchymosis with tarsal plate sparing
systematic_name: M48844
exact_source: HP:0025553
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025553
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. [PMID:20411091]


description_brief: Abnormal inferior vena cava morphology
systematic_name: M47236
exact_source: HP:0025576
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025576
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the principal vein draining blood from the lower portion of the body. [MP:0006063]


description_brief: Posterior blepharitis
systematic_name: M43468
exact_source: HP:0025610
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025610
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. [https://orcid.org/0000-0003-0986-4123]


description_brief: Focal emotional seizure
systematic_name: M41495
exact_source: HP:0025613
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025613
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. [PMID:28276060, PMID:28276062, PMID:28276064]


description_brief: Abnormal ureter morphology
systematic_name: M38302
exact_source: HP:0025633
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025633
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. []


description_brief: Abnormal ureter physiology
systematic_name: M38303
exact_source: HP:0025634
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025634
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. []


description_brief: Fetal neck anomaly
systematic_name: M45469
exact_source: HP:0025667
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025667
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly in the fetal neck region. 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: Fetal pericardial effusion
systematic_name: M47237
exact_source: HP:0025671
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025671
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. [PMID:16098320, PMID:33781717]


description_brief: Fetal pleural effusion
systematic_name: M47238
exact_source: HP:0025676
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025676
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. [PMID:18280793]


description_brief: Anhydramnios
systematic_name: M47239
exact_source: HP:0025700
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025700
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. [PMID:34230606]


description_brief: Cerebral infarct
systematic_name: M47240
exact_source: HP:0025722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors. [PMID:10867785]


description_brief: Abnormal fetal skin morphology
systematic_name: M45470
exact_source: HP:0025723
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0025723
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the skin of the fetus or newborn. 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: EMG: positive sharp waves
systematic_name: M46267
exact_source: HP:0030007
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030007
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. [PMID:15961866]


description_brief: Hydrometrocolpos
systematic_name: M47241
exact_source: HP:0030010
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030010
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. [PMID:24046799]


description_brief: Female sexual dysfunction
systematic_name: M38306
exact_source: HP:0030014
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030014
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 female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity [PMID:26953829]


description_brief: Enchondroma
systematic_name: M38308
exact_source: HP:0030038
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030038
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. []


description_brief: Hip subluxation
systematic_name: M38309
exact_source: HP:0030043
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030043
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. []


description_brief: Flexion contracture of digit
systematic_name: M38310
exact_source: HP:0030044
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030044
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. []


description_brief: Colpocephaly
systematic_name: M38312
exact_source: HP:0030048
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030048
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. [PMID:4058748]


description_brief: Tip-toe gait
systematic_name: M38313
exact_source: HP:0030051
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030051
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. [PMID:24757457, PMID:26709689]


description_brief: Inguinal freckling
systematic_name: M43472
exact_source: HP:0030052
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030052
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. []


description_brief: Autoimmune antibody positivity
systematic_name: M38316
exact_source: HP:0030057
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030057
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. []


description_brief: Primitive neuroectodermal tumor
systematic_name: M38317
exact_source: HP:0030065
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030065
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. []


description_brief: Burkitt lymphoma
systematic_name: M38318
exact_source: HP:0030080
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030080
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. []


description_brief: Abnormal drinking behavior
systematic_name: M38319
exact_source: HP:0030082
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030082
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. []


description_brief: Clinodactyly
systematic_name: M38320
exact_source: HP:0030084
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030084
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). [PMID:16252026]


description_brief: Abnormal CSF lactate concentration
systematic_name: M48847
exact_source: HP:0030085
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030085
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal concentration of lactate in the cerebrospinal fluid. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal muscle fiber protein expression
systematic_name: M38322
exact_source: HP:0030089
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030089
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. []


description_brief: Abnormal muscle fiber merosin expression
systematic_name: M47242
exact_source: HP:0030090
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030090
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. [https://orcid.org/0000-0002-0736-9199, PMID:2185464]


description_brief: Reduced muscle fiber alpha dystroglycan
systematic_name: M48848
exact_source: HP:0030099
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030099
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. [HPO_CONTRIBUTOR:UToronto_htrang, https://orcid.org/0000-0002-0736-9199, PMID:11592034]


description_brief: Abnormal muscle fiber alpha dystroglycan
systematic_name: M38323
exact_source: HP:0030112
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030112
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. []


description_brief: Excessive bleeding from superficial cuts
systematic_name: M48849
exact_source: HP:0030138
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030138
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. [HPO_CONTRIBUTOR:cmiller]


description_brief: Abnormality of the posterior hairline
systematic_name: M48850
exact_source: HP:0030141
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030141
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal bowel sounds
systematic_name: M38327
exact_source: HP:0030142
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030142
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. []


description_brief: Abnormal liver parenchyma morphology
systematic_name: M38328
exact_source: HP:0030146
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030146
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. [https://orcid.org/0000-0002-0736-9199, PMID:11157536]


description_brief: Truncal titubation
systematic_name: M41497
exact_source: HP:0030147
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030147
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cardiogenic shock
systematic_name: M45471
exact_source: HP:0030149
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030149
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. [PMID:24188221]


description_brief: Cholangitis
systematic_name: M38329
exact_source: HP:0030151
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030151
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. [https://orcid.org/0000-0002-0736-9199, PMID:21994886]


description_brief: Cholangiocarcinoma
systematic_name: M41498
exact_source: HP:0030153
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030153
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. [https://orcid.org/0000-0002-0736-9199, PMID:18536057, PMID:8268770]


description_brief: Flank pain
systematic_name: M38330
exact_source: HP:0030157
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030157
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) and perceived to originate in the flank. []


description_brief: Night sweats
systematic_name: M38332
exact_source: HP:0030166
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030166
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Occurrence of excessive sweating during sleep. [https://orcid.org/0000-0002-0736-9199, PMID:23136329]


description_brief: Antimitochondrial antibody positivity
systematic_name: M48851
exact_source: HP:0030167
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030167
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 against mitochondria. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal peripheral action potential amplitude
systematic_name: M43474
exact_source: HP:0030179
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030179
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. []


description_brief: Tetraplegia/tetraparesis
systematic_name: M38336
exact_source: HP:0030182
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030182
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. []


description_brief: Kinetic tremor
systematic_name: M38337
exact_source: HP:0030186
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030186
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. []


description_brief: Fatigable weakness of bulbar muscles
systematic_name: M38340
exact_source: HP:0030192
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030192
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [HPO_CONTRIBUTOR:UNCL_mbertoli, https://orcid.org/0000-0002-0736-9199, PMID:17986328]


description_brief: Fatigable weakness of swallowing muscles
systematic_name: M38341
exact_source: HP:0030195
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030195
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [HPO_CONTRIBUTOR:UK_rheller, PMID:17986328]


description_brief: Fatigable weakness of respiratory muscles
systematic_name: M38342
exact_source: HP:0030196
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030196
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [HPO_CONTRIBUTOR:UNCL_mbertoli]


description_brief: Fatigable weakness of skeletal muscles
systematic_name: M38343
exact_source: HP:0030197
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030197
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. []


description_brief: Fatigable weakness of distal limb muscles
systematic_name: M38344
exact_source: HP:0030198
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030198
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [HPO_CONTRIBUTOR:UK_rheller]


description_brief: Fatiguable weakness of proximal limb muscles
systematic_name: M38345
exact_source: HP:0030200
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030200
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [HPO_CONTRIBUTOR:UK_rheller]


description_brief: Response to drugs acting on neuromuscular transmission
systematic_name: M38346
exact_source: HP:0030201
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030201
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. [HPO_CONTRIBUTOR:UK_rheller]


description_brief: Favorable response of weakness to acetylcholine esterase inhibitors
systematic_name: M48852
exact_source: HP:0030202
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030202
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. [HPO_CONTRIBUTOR:UK_rheller]


description_brief: Increased jitter at single fiber EMG
systematic_name: M47243
exact_source: HP:0030205
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030205
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). [HPO_CONTRIBUTOR:UK_rheller, PMID:21654930]


description_brief: Anti-acetylcholine receptor antibody positivity
systematic_name: M47244
exact_source: HP:0030208
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030208
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 ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. [HPO_CONTRIBUTOR:UK_rheller]


description_brief: Slow pupillary light response
systematic_name: M41499
exact_source: HP:0030211
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030211
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced velocity and acceleration in the pupillary light response. [HPO_CONTRIBUTOR:UNCL_tevangelista, PMID:974056]


description_brief: Inertia
systematic_name: M47245
exact_source: HP:0030216
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030216
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). [HPO_CONTRIBUTOR:ICM_PCaroppo]


description_brief: Punding
systematic_name: M46271
exact_source: HP:0030218
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030218
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. [HPO_CONTRIBUTOR:ICM_PCaroppo, PMID:15077237, PMID:25452726]


description_brief: Semantic dementia
systematic_name: M48853
exact_source: HP:0030219
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030219
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A progressive loss of the ability to remember the meaning of words, faces and objects. [HPO_CONTRIBUTOR:ICM_PCaroppo, PMID:24966676]


description_brief: Visual agnosia
systematic_name: M41500
exact_source: HP:0030222
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030222
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory. []


description_brief: Perseverative thought
systematic_name: M38349
exact_source: HP:0030223
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030223
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention. []


description_brief: Highly elevated creatine kinase
systematic_name: M41501
exact_source: HP:0030234
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030234
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased CPK level between 4X and 50X above the upper normal level. [https://orcid.org/0000-0001-9046-3540]


description_brief: Abnormality of muscle size
systematic_name: M38350
exact_source: HP:0030236
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030236
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormalities of the overall muscle bulk based on clinical observation. [https://orcid.org/0000-0001-9046-3540]


description_brief: Portal vein thrombosis
systematic_name: M38352
exact_source: HP:0030242
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030242
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. [https://orcid.org/0000-0002-0736-9199, PMID:21960890]


description_brief: Hepatic vein thrombosis
systematic_name: M48854
exact_source: HP:0030243
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030243
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An obstruction in the veins of the liver caused by a blood clot (thrombosis). [https://orcid.org/0000-0002-0736-9199]


description_brief: Splanchnic vein thrombosis
systematic_name: M38353
exact_source: HP:0030247
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030247
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). [https://orcid.org/0000-0002-0736-9199, PMID:20532730]


description_brief: Absent circulating B cells
systematic_name: M46272
exact_source: HP:0030252
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030252
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete lack of mature B cells, that is, of B cells that have left the bone marrow. [https://orcid.org/0000-0002-0736-9199]


description_brief: Defective T cell proliferation
systematic_name: M41502
exact_source: HP:0030253
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030253
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability of a T cell population to expand by cell division following T cell activation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Microphallus
systematic_name: M38355
exact_source: HP:0030260
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030260
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Length of penis more than 2 SD below the mean for age accompanied by hypospadias. [https://orcid.org/0000-0002-0736-9199, PMID:23650202]


description_brief: Hyperplastic callus formation
systematic_name: M41503
exact_source: HP:0030268
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0030268
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. [https://orcid.org/0000-0002-0736-9199, PMID:12913845, PMID:17451374]


