# gene_set_details

description_brief: Limited hip extension
systematic_name: M43283
exact_source: HP:0003093
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003093
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal cortical bone morphology
systematic_name: M36168
exact_source: HP:0003103
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003103
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. [https://orcid.org/0009-0006-4530-3154]


description_brief: Hyperglycinuria
systematic_name: M47070
exact_source: HP:0003108
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003108
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of glycine in the urine. [HPO_CONTRIBUTOR:gcarletti, PMID:18901181, PMID:20240447]


description_brief: Abnormality of urine homeostasis
systematic_name: M36171
exact_source: HP:0003110
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003110
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the composition of urine or the levels of its components. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal blood ion concentration
systematic_name: M36172
exact_source: HP:0003111
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003111
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the homeostasis (concentration) of a monoatomic ion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating amino acid concentration
systematic_name: M41274
exact_source: HP:0003112
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003112
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypochloremia
systematic_name: M36173
exact_source: HP:0003113
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003113
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally decreased chloride concentration in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating hormone concentration
systematic_name: M36175
exact_source: HP:0003117
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003117
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of a hormone in the blood circulation outside of normal limits. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased circulating cortisol level
systematic_name: M36176
exact_source: HP:0003118
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003118
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. [https://orcid.org/0000-0002-0538-4547]


description_brief: Abnormal circulating lipid concentration
systematic_name: M36177
exact_source: HP:0003119
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003119
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 lipid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limb joint contracture
systematic_name: M36178
exact_source: HP:0003121
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003121
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Low-molecular-weight proteinuria
systematic_name: M41275
exact_source: HP:0003126
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003126
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). [PMID:95574]


description_brief: Lactic acidosis
systematic_name: M36181
exact_source: HP:0003128
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003128
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal peripheral myelination
systematic_name: M36182
exact_source: HP:0003130
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003130
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. [HPO_CONTRIBUTOR:jbaets, https://orcid.org/0000-0002-9102-5232]


description_brief: Abnormality of the spinocerebellar tracts
systematic_name: M36184
exact_source: HP:0003133
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003133
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of peripheral nerve conduction
systematic_name: M47072
exact_source: HP:0003134
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003134
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). [https://orcid.org/0000-0002-0736-9199]


description_brief: Prolinuria
systematic_name: M36185
exact_source: HP:0003137
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003137
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Level of proline in the urine anove the upper limit of normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Panhypogammaglobulinemia
systematic_name: M36187
exact_source: HP:0003139
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003139
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. [PMID:23726535]


description_brief: Increased LDL cholesterol concentration
systematic_name: M36188
exact_source: HP:0003141
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003141
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevated concentration of low-density lipoprotein cholesterol in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating adenosylcobalamin concentration
systematic_name: M36190
exact_source: HP:0003145
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003145
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12. [https://orcid.org/0000-0002-0736-9199]


description_brief: Glutaric aciduria
systematic_name: M36192
exact_source: HP:0003150
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003150
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Increased circulating ACTH level
systematic_name: M36193
exact_source: HP:0003154
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003154
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated urinary delta-aminolevulinic acid
systematic_name: M41277
exact_source: HP:0003163
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003163
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal acetabulum morphology
systematic_name: M36199
exact_source: HP:0003170
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003170
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal pubic bone morphology
systematic_name: M36200
exact_source: HP:0003172
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003172
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal ischium morphology
systematic_name: M36201
exact_source: HP:0003174
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003174
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the ischium, which forms the lower and back part of the hip bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypoplastic ischia
systematic_name: M36202
exact_source: HP:0003175
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003175
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the ischium, which forms the lower and back part of the hip bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Squared iliac bones
systematic_name: M36203
exact_source: HP:0003177
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003177
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Flat acetabular roof
systematic_name: M36205
exact_source: HP:0003180
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003180
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. [https://orcid.org/0000-0002-0736-9199]


description_brief: Wide pubic symphysis
systematic_name: M36207
exact_source: HP:0003183
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003183
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short greater sciatic notch
systematic_name: M43287
exact_source: HP:0003185
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003185
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. [https://orcid.org/0000-0002-0736-9199]


description_brief: Inverted nipples
systematic_name: M36209
exact_source: HP:0003186
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003186
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of nipples that instead of pointing outward are retracted inwards. [https://orcid.org/0009-0006-4530-3154]


description_brief: Long nose
systematic_name: M36211
exact_source: HP:0003189
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003189
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. [PMID:19152422]


description_brief: Cleft ala nasi
systematic_name: M46082
exact_source: HP:0003191
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003191
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a notch in the margin of the ala nasi. [https://orcid.org/0000-0002-0736-9199, PMID:19152422]


description_brief: Allergic rhinitis
systematic_name: M36212
exact_source: HP:0003193
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003193
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. [PMID:11449200]


description_brief: Short nasal bridge
systematic_name: M47073
exact_source: HP:0003194
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003194
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. []


description_brief: Short nose
systematic_name: M36213
exact_source: HP:0003196
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003196
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [https://orcid.org/0000-0002-0736-9199, PMID:19152422]


description_brief: Myopathy
systematic_name: M36214
exact_source: HP:0003198
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003198
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ragged-red muscle fibers
systematic_name: M36216
exact_source: HP:0003200
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003200
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. [https://orcid.org/0000-0002-0736-9199, PMID:12075011, PMID:16537564]


description_brief: Rhabdomyolysis
systematic_name: M36217
exact_source: HP:0003201
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003201
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. [https://orcid.org/0000-0002-0736-9199]


description_brief: Skeletal muscle atrophy
systematic_name: M36218
exact_source: HP:0003202
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003202
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of skeletal muscular atrophy (which is also known as amyotrophy). [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired oxidative burst
systematic_name: M36219
exact_source: HP:0003203
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003203
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intracellular accumulation of autofluorescent lipopigment storage material
systematic_name: M48711
exact_source: HP:0003204
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003204
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The intracellular accumulation of autofluorescent storage material. [https://orcid.org/0000-0002-0736-9199, PMID:16455164]


description_brief: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
systematic_name: M47074
exact_source: HP:0003205
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003205
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased methylmalonyl-CoA mutase activity
systematic_name: M36223
exact_source: HP:0003210
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003210
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased circulating IgE level
systematic_name: M48713
exact_source: HP:0003212
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003212
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased overall level of immunoglobulin E in blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ethylmalonic aciduria
systematic_name: M36228
exact_source: HP:0003219
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003219
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of chromosome stability
systematic_name: M36229
exact_source: HP:0003220
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003220
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chromosomal breakage induced by crosslinking agents
systematic_name: M36230
exact_source: HP:0003221
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003221
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 DNA cross-linking agents such as diepoxybutane and mitomycin C. [https://orcid.org/0009-0006-4530-3154]


description_brief: Decreased circulating methylcobalamin concentration
systematic_name: M36231
exact_source: HP:0003223
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003223
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating carnitine concentration
systematic_name: M48715
exact_source: HP:0003234
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003234
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of carnitine in the blood circulation below the lower limit of normal. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Elevated circulating creatine kinase concentration
systematic_name: M48716
exact_source: HP:0003236
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003236
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [https://orcid.org/0000-0002-0736-9199]


description_brief: External genital hypoplasia
systematic_name: M36236
exact_source: HP:0003241
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003241
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of part or all of the external reproductive organs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of DNA repair
systematic_name: M36239
exact_source: HP:0003254
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003254
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the coagulation cascade
systematic_name: M36240
exact_source: HP:0003256
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003256
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hip contracture
systematic_name: M36244
exact_source: HP:0003273
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003273
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. [PMID:16214063, PMID:24975760, PMID:31282072]


description_brief: Cystathioninemia
systematic_name: M41280
exact_source: HP:0003286
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003286
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of cystathionine in the blood. [HPO_CONTRIBUTOR:gcarletti, PMID:16902722]


description_brief: Decreased serum leptin
systematic_name: M46085
exact_source: HP:0003292
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003292
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased concentration of leptin in the blood. [https://orcid.org/0000-0002-0736-9199, PMID:16932309]


description_brief: Hyperlysinuria
systematic_name: M47076
exact_source: HP:0003297
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003297
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of lysine in the urine. [https://orcid.org/0000-0002-0736-9199, PMID:18901181, PMID:20240447]


description_brief: Spina bifida occulta
systematic_name: M36247
exact_source: HP:0003298
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003298
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ovoid vertebral bodies
systematic_name: M36248
exact_source: HP:0003300
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003300
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. [https://orcid.org/0000-0002-0736-9199]


description_brief: Irregular vertebral endplates
systematic_name: M36249
exact_source: HP:0003301
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003301
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An irregular surface of the vertebral end plates, which are normally relatively smooth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Spondylolisthesis
systematic_name: M36250
exact_source: HP:0003302
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003302
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. [https://orcid.org/0000-0002-0736-9199, PMID:20411054]


description_brief: Spondylolysis
systematic_name: M36251
exact_source: HP:0003304
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003304
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. [https://orcid.org/0000-0002-0736-9199, PMID:20440613]


description_brief: Block vertebrae
systematic_name: M46086
exact_source: HP:0003305
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003305
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). [https://orcid.org/0000-0002-0736-9199]


description_brief: Spinal rigidity
systematic_name: M36252
exact_source: HP:0003306
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003306
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. [https://orcid.org/0000-0002-0736-9199, PMID:11601420, PMID:2246660]


description_brief: Hyperlordosis
systematic_name: M36253
exact_source: HP:0003307
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003307
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cervical subluxation
systematic_name: M36254
exact_source: HP:0003308
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003308
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A partial dislocation of one or more intervertebral joints in the cervical vertebral column. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal odontoid process morphology
systematic_name: M36255
exact_source: HP:0003310
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003310
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. [https://orcid.org/0000-0002-0736-9199, PMID:27081234]


description_brief: Butterfly vertebrae
systematic_name: M36258
exact_source: HP:0003316
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003316
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. [https://orcid.org/0000-0002-0736-9199, PMID:31448202, PMID:3693103]


description_brief: Generalized muscle weakness
systematic_name: M36261
exact_source: HP:0003324
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003324
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limb-girdle muscle weakness
systematic_name: M36262
exact_source: HP:0003325
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003325
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Axial muscle weakness
systematic_name: M36264
exact_source: HP:0003327
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003327
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal hairshaft morphology
systematic_name: M36265
exact_source: HP:0003328
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003328
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin. []


description_brief: Abnormal bone structure
systematic_name: M36266
exact_source: HP:0003330
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003330
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly in the composite material or the layered arrangement of the bony skeleton. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated circulating catecholamine level
systematic_name: M46087
exact_source: HP:0003334
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003334
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in catecholamine concentration in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal enchondral ossification
systematic_name: M36267
exact_source: HP:0003336
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003336
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated urinary norepinephrine level
systematic_name: M47077
exact_source: HP:0003345
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003345
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired lymphocyte transformation with phytohemagglutinin
systematic_name: M41282
exact_source: HP:0003347
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003347
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abdominal situs inversus
systematic_name: M47078
exact_source: HP:0003363
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003363
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A left-right reversal (or \mirror reflection\) of the anatomical location of the viscera of the abdomen. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal femoral neck morphology
systematic_name: M43288
exact_source: HP:0003367
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003367
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [https://orcid.org/0000-0002-0736-9199]


description_brief: Steppage gait
systematic_name: M36275
exact_source: HP:0003376
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003376
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. [https://orcid.org/0000-0002-0736-9199, PMID:27770207]


description_brief: Axonal degeneration/regeneration
systematic_name: M36276
exact_source: HP:0003378
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003378
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pattern of simultaneous degeneration and regeneration of axons (see comment). [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased number of peripheral myelinated nerve fibers
systematic_name: M36277
exact_source: HP:0003380
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003380
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). [https://orcid.org/0000-0002-0736-9199]


description_brief: Onion bulb formation
systematic_name: M36279
exact_source: HP:0003383
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003383
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gowers sign
systematic_name: M36283
exact_source: HP:0003391
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003391
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Syringomyelia
systematic_name: M36286
exact_source: HP:0003396
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003396
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormal synaptic transmission at the neuromuscular junction
systematic_name: M36287
exact_source: HP:0003398
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003398
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Paresthesia
systematic_name: M36288
exact_source: HP:0003401
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003401
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased miniature endplate potentials
systematic_name: M36289
exact_source: HP:0003402
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003402
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. [https://orcid.org/0000-0002-0736-9199]


description_brief: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
systematic_name: M36290
exact_source: HP:0003403
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003403
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Distal sensory impairment of all modalities
systematic_name: M36291
exact_source: HP:0003409
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003409
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. []


description_brief: Atlantoaxial abnormality
systematic_name: M36293
exact_source: HP:0003413
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003413
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. [https://orcid.org/0000-0002-0736-9199]


description_brief: Back pain
systematic_name: M36297
exact_source: HP:0003418
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003418
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 back. []


description_brief: Low back pain
systematic_name: M36298
exact_source: HP:0003419
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003419
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 lower back. []


description_brief: Vertebral segmentation defect
systematic_name: M36299
exact_source: HP:0003422
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003422
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality related to a defect of vertebral separation during development. [https://orcid.org/0000-0002-0736-9199, PMID:23653580, PMID:23801490]


description_brief: CNS hypomyelination
systematic_name: M36301
exact_source: HP:0003429
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003429
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. [https://orcid.org/0000-0002-0736-9199]


description_brief: EMG: neuropathic changes
systematic_name: M36304
exact_source: HP:0003445
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003445
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). [https://orcid.org/0000-0002-0736-9199]


description_brief: Axonal loss
systematic_name: M36305
exact_source: HP:0003447
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003447
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the number of axons in the peripheral nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cold-induced muscle cramps
systematic_name: M36306
exact_source: HP:0003449
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003449
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. [https://orcid.org/0000-0002-0736-9199]


description_brief: Axonal regeneration
systematic_name: M36307
exact_source: HP:0003450
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003450
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of axonal regeneration following a previous axonal lesion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Antineutrophil antibody positivity
systematic_name: M36309
exact_source: HP:0003453
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003453
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of autoantibodies in the serum that react against neutrophils. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated circulating long chain fatty acid concentration
systematic_name: M36310
exact_source: HP:0003455
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003455
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased concentration of long-chain fatty acids in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: EMG abnormality
systematic_name: M36311
exact_source: HP:0003457
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003457
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal results of investigations using electromyography (EMG). [https://orcid.org/0000-0002-0736-9199, PMID:15961866, PMID:18751841]


description_brief: EMG: myopathic abnormalities
systematic_name: M36312
exact_source: HP:0003458
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003458
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. [https://orcid.org/0000-0002-0736-9199]


description_brief: Polyclonal elevation of IgM
systematic_name: M36313
exact_source: HP:0003459
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003459
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. [PMID:11508831]


description_brief: Decreased circulating total IgA
systematic_name: M41285
exact_source: HP:0003460
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003460
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). [https://orcid.org/0000-0002-0736-9199]


description_brief: Atlantoaxial instability
systematic_name: M43289
exact_source: HP:0003467
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003467
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. [https://orcid.org/0000-0002-0736-9199]


description_brief: Paralysis
systematic_name: M36315
exact_source: HP:0003470
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003470
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. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypocalcemic tetany
systematic_name: M41286
exact_source: HP:0003472
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003472
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. [https://orcid.org/0000-0002-0736-9199]


description_brief: Somatic sensory dysfunction
systematic_name: M36316
exact_source: HP:0003474
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003474
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. [https://orcid.org/0000-0002-0736-9199]


description_brief: Peripheral axonal neuropathy
systematic_name: M48718
exact_source: HP:0003477
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003477
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality characterized by disruption of the normal functioning of peripheral axons. [https://orcid.org/0000-0002-0736-9199]


description_brief: Segmental peripheral demyelination/remyelination
systematic_name: M36318
exact_source: HP:0003481
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003481
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. [https://orcid.org/0000-0002-0736-9199]


description_brief: EMG: axonal abnormality
systematic_name: M36319
exact_source: HP:0003482
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003482
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. [https://orcid.org/0000-0002-0736-9199]


description_brief: Babinski sign
systematic_name: M36321
exact_source: HP:0003487
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003487
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Antinuclear antibody positivity
systematic_name: M36322
exact_source: HP:0003493
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003493
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of autoantibodies in the serum that react against nuclei or nuclear components. [https://orcid.org/0000-0002-0736-9199]


description_brief: Disproportionate short stature
systematic_name: M36324
exact_source: HP:0003498
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003498
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of short stature in which different regions of the body are shortened to differing extents. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mild short stature
systematic_name: M36325
exact_source: HP:0003502
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003502
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. [https://orcid.org/0000-0002-6410-0882]


description_brief: Proportionate short stature
systematic_name: M36326
exact_source: HP:0003508
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003508
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of short stature in which different regions of the body are shortened to a comparable extent. [https://orcid.org/0000-0002-0736-9199]


description_brief: Severe short stature
systematic_name: M36327
exact_source: HP:0003510
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003510
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [https://orcid.org/0000-0002-0736-9199]


description_brief: Disproportionate short-trunk short stature
systematic_name: M36329
exact_source: HP:0003521
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003521
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated circulating calcitonin concentration
systematic_name: M36330
exact_source: HP:0003528
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003528
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal. []


description_brief: Exercise intolerance
systematic_name: M36336
exact_source: HP:0003546
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003546
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. [PMID:10617757]


description_brief: Shoulder girdle muscle weakness
systematic_name: M36337
exact_source: HP:0003547
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003547
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. [https://orcid.org/0000-0002-0736-9199]


description_brief: Subsarcolemmal accumulations of abnormally shaped mitochondria
systematic_name: M36338
exact_source: HP:0003548
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003548
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of connective tissue
systematic_name: M47082
exact_source: HP:0003549
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003549
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). [https://orcid.org/0000-0002-0736-9199]


description_brief: Predominantly lower limb lymphedema
systematic_name: M36340
exact_source: HP:0003550
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003550
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Muscle stiffness
systematic_name: M36342
exact_source: HP:0003552
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003552
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which muscles cannot be moved quickly without accompanying pain or spasm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Type 2 muscle fiber atrophy
systematic_name: M36343
exact_source: HP:0003554
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003554
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Muscle fiber splitting
systematic_name: M36344
exact_source: HP:0003555
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003555
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. [PMID:6123177]


description_brief: Muscular dystrophy
systematic_name: M36345
exact_source: HP:0003560
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003560
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. [https://orcid.org/0000-0001-9046-3540, https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased LDL cholesterol concentration
systematic_name: M36347
exact_source: HP:0003563
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003563
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An decreased concentration of low-density lipoprotein cholesterol in the blood. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Increased total bilirubin
systematic_name: M36350
exact_source: HP:0003573
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003573
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Adult onset
systematic_name: M36352
exact_source: HP:0003581
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003581
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [https://orcid.org/0000-0002-0736-9199]


description_brief: Late onset
systematic_name: M36353
exact_source: HP:0003584
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003584
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of adult onset with onset of symptoms after the age of 60 years. [https://orcid.org/0000-0002-0736-9199]


description_brief: Infantile onset
systematic_name: M36355
exact_source: HP:0003593
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003593
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Onset of signs or symptoms of disease between 28 days to one year of life. [https://orcid.org/0000-0002-0736-9199]


description_brief: Middle age onset
systematic_name: M36356
exact_source: HP:0003596
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003596
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of adult onset with onset of symptoms at the age of 40 to 60 years. [https://orcid.org/0000-0002-0736-9199]


description_brief: Antiphospholipid antibody positivity
systematic_name: M36357
exact_source: HP:0003613
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003613
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of circulating autoantibodies to phospholipids. [https://orcid.org/0000-0002-0736-9199]


description_brief: Juvenile onset
systematic_name: M36358
exact_source: HP:0003621
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003621
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Onset of signs or symptoms of disease between the age of 5 and 15 years. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neonatal onset
systematic_name: M36359
exact_source: HP:0003623
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003623
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Onset of signs or symptoms of disease within the first 28 days of life. [https://orcid.org/0000-0002-0736-9199]


description_brief: Loss of subcutaneous adipose tissue in limbs
systematic_name: M36360
exact_source: HP:0003635
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003635
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Type I transferrin isoform profile
systematic_name: M36362
exact_source: HP:0003642
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003642
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 I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. [https://orcid.org/0000-0002-0736-9199, PMID:15105360, PMID:22516080]


description_brief: Prolonged partial thromboplastin time
systematic_name: M36363
exact_source: HP:0003645
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003645
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bicarbonaturia
systematic_name: M48720
exact_source: HP:0003646
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003646
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased concentration of hydrogencarbonate in the urine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Foam cells
systematic_name: M36365
exact_source: HP:0003651
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003651
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent myoglobinuria
systematic_name: M45409
exact_source: HP:0003652
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003652
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vascular granular osmiophilic material deposition
systematic_name: M46090
exact_source: HP:0003657
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003657
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin. [PMID:17183453, PMID:31667734]


description_brief: Slowly progressive
systematic_name: M36369
exact_source: HP:0003677
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003677
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. []


description_brief: Rapidly progressive
systematic_name: M36370
exact_source: HP:0003678
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003678
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Applies to a disease manifestation that quickly increases in scope or severity over the course of time. []


description_brief: Nonprogressive
systematic_name: M36372
exact_source: HP:0003680
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003680
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. []


description_brief: Centrally nucleated skeletal muscle fibers
systematic_name: M36374
exact_source: HP:0003687
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003687
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). [https://orcid.org/0000-0002-0736-9199, PMID:20181480]


description_brief: Cytochrome C oxidase-negative muscle fibers
systematic_name: M36375
exact_source: HP:0003688
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003688
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Multiple mitochondrial DNA deletions
systematic_name: M41289
exact_source: HP:0003689
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003689
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of multiple deletions of mitochondrial DNA (mtDNA). [https://orcid.org/0000-0002-0736-9199]


description_brief: Limb muscle weakness
systematic_name: M36376
exact_source: HP:0003690
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003690
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced strength and weakness of the muscles of the arms and legs. [https://orcid.org/0009-0006-4530-3154]


description_brief: Scapular winging
systematic_name: M36377
exact_source: HP:0003691
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003691
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal protrusion of the scapula away from the surface of the back. [https://orcid.org/0000-0002-0736-9199]


description_brief: Distal amyotrophy
systematic_name: M36378
exact_source: HP:0003693
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003693
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular atrophy affecting muscles in the distal portions of the extremities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Late-onset proximal muscle weakness
systematic_name: M36379
exact_source: HP:0003694
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003694
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of strength of the proximal musculature occurring late in the clinical course. [https://orcid.org/0000-0002-0736-9199]


description_brief: Scapuloperoneal amyotrophy
systematic_name: M47083
exact_source: HP:0003697
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003697
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Generalized amyotrophy
systematic_name: M36381
exact_source: HP:0003700
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003700
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Calf muscle pseudohypertrophy
systematic_name: M36383
exact_source: HP:0003707
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003707
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. [https://orcid.org/0000-0002-0736-9199]


description_brief: Exercise-induced muscle cramps
systematic_name: M36384
exact_source: HP:0003710
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003710
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sudden and involuntary contractions of one or more muscles brought on by physical exertion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Skeletal muscle hypertrophy
systematic_name: M36385
exact_source: HP:0003712
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003712
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal increase in muscle size and mass not due to training. [https://orcid.org/0000-0002-0736-9199]


description_brief: Muscle fiber necrosis
systematic_name: M36386
exact_source: HP:0003713
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003713
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Myofibrillar myopathy
systematic_name: M36387
exact_source: HP:0003715
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003715
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neck flexor weakness
systematic_name: M36388
exact_source: HP:0003722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). [https://orcid.org/0000-0002-0736-9199]


description_brief: Quadriceps muscle weakness
systematic_name: M36390
exact_source: HP:0003731
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003731
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). [https://orcid.org/0000-0002-0736-9199]


description_brief: Autophagic vacuoles
systematic_name: M36391
exact_source: HP:0003736
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003736
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. [https://orcid.org/0000-0002-0736-9199, PMID:17027858]


description_brief: Mitochondrial myopathy
systematic_name: M36392
exact_source: HP:0003737
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003737
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Exercise-induced myalgia
systematic_name: M36393
exact_source: HP:0003738
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003738
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The occurrence of an unusually high amount of muscle pain following exercise. [https://orcid.org/0000-0002-0736-9199]


description_brief: Genetic anticipation
systematic_name: M36396
exact_source: HP:0003743
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003743
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sporadic
systematic_name: M36397
exact_source: HP:0003745
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003745
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pelvic girdle muscle weakness
systematic_name: M36398
exact_source: HP:0003749
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003749
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Episodic flaccid weakness
systematic_name: M36400
exact_source: HP:0003752
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003752
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced subcutaneous adipose tissue
systematic_name: M36403
exact_source: HP:0003758
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003758
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. []


description_brief: Uterus didelphys
systematic_name: M36405
exact_source: HP:0003762
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003762
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bruxism
systematic_name: M36406
exact_source: HP:0003763
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003763
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake. [PMID:29926505]


description_brief: Nevus
systematic_name: M36407
exact_source: HP:0003764
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003764
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Psoriasiform dermatitis
systematic_name: M36408
exact_source: HP:0003765
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003765
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulp calcification
systematic_name: M41290
exact_source: HP:0003771
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003771
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Stage 5 chronic kidney disease
systematic_name: M36410
exact_source: HP:0003774
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003774
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pili torti
systematic_name: M36411
exact_source: HP:0003777
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003777
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. [https://orcid.org/0000-0002-0736-9199]


description_brief: Eunuchoid habitus
systematic_name: M36413
exact_source: HP:0003782
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003782
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). [https://orcid.org/0000-0002-0736-9199]


description_brief: Minicore myopathy
systematic_name: M36415
exact_source: HP:0003789
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003789
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short middle phalanx of toe
systematic_name: M36417
exact_source: HP:0003795
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003795
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Developmental hypoplasia (shortening) of middle phalanx of toe. [https://orcid.org/0000-0002-0736-9199]


description_brief: Irregular iliac crest
systematic_name: M43290
exact_source: HP:0003796
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003796
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Irregularity of the iliac crest, which is the superior border of the wing of the ilium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Nemaline bodies
systematic_name: M36419
exact_source: HP:0003798
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003798
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. [https://orcid.org/0000-0002-0736-9199, PMID:11333380]


description_brief: Type 1 muscle fiber predominance
systematic_name: M46091
exact_source: HP:0003803
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003803
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). [https://orcid.org/0000-0002-0736-9199]


description_brief: Rimmed vacuoles
systematic_name: M36422
exact_source: HP:0003805
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003805
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. [https://orcid.org/0000-0002-0736-9199]


description_brief: Death in childhood
systematic_name: M36425
exact_source: HP:0003819
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003819
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Death in during childhood, defined here as between the ages of 2 and 10 years. [https://orcid.org/0000-0002-0736-9199]


description_brief: Stillbirth
systematic_name: M36426
exact_source: HP:0003826
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003826
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Death of the fetus in utero after at least 22 weeks of gestation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Typified by incomplete penetrance
systematic_name: M36428
exact_source: HP:0003829
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003829
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. [https://orcid.org/0000-0002-0736-9199]


description_brief: Shoulder dislocation
systematic_name: M36429
exact_source: HP:0003834
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003834
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent forearm bone
systematic_name: M48722
exact_source: HP:0003953
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003953
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of one or more forearm bones associated with congenital failure of development. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bowed forearm bones
systematic_name: M47087
exact_source: HP:0003956
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003956
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A bending or abnormal curvature affecting either the radius, the ulna, or both. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia of the ulna
systematic_name: M47089
exact_source: HP:0003982
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003982
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Missing ulna bone associated with congenital failure of development. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mitten deformity
systematic_name: M36436
exact_source: HP:0004057
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004057
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \mitten\ hand deformity. [https://orcid.org/0000-0002-0736-9199, PMID:20301304]


description_brief: Macrodactyly
systematic_name: M36437
exact_source: HP:0004099
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004099
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. [PMID:19125433]


description_brief: Abnormal 2nd finger morphology
systematic_name: M36438
exact_source: HP:0004100
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004100
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the second finger, also known as the index finger. [https://orcid.org/0000-0002-0736-9199]


description_brief: Midline defect of the nose
systematic_name: M36439
exact_source: HP:0004122
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004122
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormality of the distal phalanx of the 5th finger
systematic_name: M36445
exact_source: HP:0004225
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004225
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the distal phalanx of the 5th (little) finger. [https://orcid.org/0000-0002-0736-9199]


description_brief: Synostosis involving bones of the hand
systematic_name: M36448
exact_source: HP:0004278
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004278
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal union between bones or parts of bones of the hand. [https://orcid.org/0009-0006-4530-3154]


description_brief: Narrow palm
systematic_name: M36450
exact_source: HP:0004283
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004283
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. [PMID:19125433]


description_brief: Abnormality of the abdominal wall
systematic_name: M36453
exact_source: HP:0004298
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004298
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of any abnormality affecting the abdominal wall. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal muscle fiber morphology
systematic_name: M36455
exact_source: HP:0004303
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004303
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. [https://orcid.org/0000-0002-0736-9199, PMID:22938878]


description_brief: Involuntary movements
systematic_name: M36456
exact_source: HP:0004305
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004305
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating aldosterone level
systematic_name: M36464
exact_source: HP:0004319
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004319
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally reduced levels of aldosterone. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Cachexia
systematic_name: M36469
exact_source: HP:0004326
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004326
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal anterior eye segment morphology
systematic_name: M47094
exact_source: HP:0004328
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004328
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased skull ossification
systematic_name: M36472
exact_source: HP:0004330
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004330
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in the magnitude or amount of ossification of the skull. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased skull ossification
systematic_name: M45411
exact_source: HP:0004331
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004331
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the magnitude or amount of ossification of the skull. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bone-marrow foam cells
systematic_name: M36475
exact_source: HP:0004333
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004333
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Myelin outfoldings
systematic_name: M45412
exact_source: HP:0004336
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004336
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of excessive redundant myelin in the peripheral nerve sheath. [https://orcid.org/0000-0002-0736-9199, PMID:10932274]


description_brief: Abnormal circulating aromatic amino acid concentration
systematic_name: M36478
exact_source: HP:0004338
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004338
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 aromatic amino acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating sulfur amino acid concentration
systematic_name: M36479
exact_source: HP:0004339
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004339
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 sulfur amino acid in the blood circulation. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Weakness of muscles of respiration
systematic_name: M36483
exact_source: HP:0004347
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004347
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of bone mineral density
systematic_name: M36484
exact_source: HP:0004348
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004348
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating carboxylic acid concentration
systematic_name: M36486
exact_source: HP:0004354
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004354
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 carboxylic acid in the blood circulation. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Abnormal circulating leucine concentration
systematic_name: M47096
exact_source: HP:0004357
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004357
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any deviation from the normal circulation of leucine in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating fatty-acid concentration
systematic_name: M36488
exact_source: HP:0004359
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004359
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 fatty acid in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of acid-base homeostasis
systematic_name: M36489
exact_source: HP:0004360
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004360
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal circulating nitrogen compound concentration
systematic_name: M36491
exact_source: HP:0004364
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004364
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 nitrogen compound in the blood circulation. [HPO_CONTRIBUTOR:gcarletti]


description_brief: Focal dystonia
systematic_name: M36495
exact_source: HP:0004373
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004373
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of dystonia that is localized to a specific part of the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hemiplegia/hemiparesis
systematic_name: M36496
exact_source: HP:0004374
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004374
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hematological neoplasm
systematic_name: M36498
exact_source: HP:0004377
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004377
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). [http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms]


description_brief: Supravalvular aortic stenosis
systematic_name: M36501
exact_source: HP:0004381
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004381
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. [https://orcid.org/0000-0002-0736-9199]


description_brief: Enterocolitis
systematic_name: M41295
exact_source: HP:0004387
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004387
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). [https://orcid.org/0009-0006-4530-3154]


description_brief: Intestinal pseudo-obstruction
systematic_name: M36505
exact_source: HP:0004389
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004389
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hamartomatous polyposis
systematic_name: M36506
exact_source: HP:0004390
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004390
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. [https://orcid.org/0009-0006-4530-3154, PMID:17768394]


description_brief: Peptic ulcer
systematic_name: M36511
exact_source: HP:0004398
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004398
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. [https://orcid.org/0000-0002-0736-9199, PMID:28242110]


description_brief: Hyposmia
systematic_name: M36516
exact_source: HP:0004409
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004409
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). [https://orcid.org/0000-0002-0736-9199]


description_brief: Deviated nasal septum
systematic_name: M36517
exact_source: HP:0004411
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004411
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary artery stenosis
systematic_name: M36519
exact_source: HP:0004415
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004415
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [https://orcid.org/0000-0002-0736-9199, PMID:30587259]


description_brief: Intermittent claudication
systematic_name: M36521
exact_source: HP:0004417
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004417
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. [PMID:27770207]


description_brief: Thrombophlebitis
systematic_name: M36522
exact_source: HP:0004418
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004418
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent thrombophlebitis
systematic_name: M36523
exact_source: HP:0004419
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004419
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). [https://orcid.org/0000-0002-0736-9199]


description_brief: Biparietal narrowing
systematic_name: M36526
exact_source: HP:0004422
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004422
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal cheek morphology
systematic_name: M36528
exact_source: HP:0004426
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004426
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \Buccal\ means relating to the cheek. The cheek is part of the midface []


description_brief: Elfin facies
systematic_name: M36529
exact_source: HP:0004428
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004428
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent viral infections
systematic_name: M36530
exact_source: HP:0004429
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004429
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Severe combined immunodeficiency
systematic_name: M41296
exact_source: HP:0004430
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004430
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. [https://orcid.org/0000-0002-0736-9199]


description_brief: Agammaglobulinemia
systematic_name: M36531
exact_source: HP:0004432
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004432
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cranial hyperostosis
systematic_name: M41297
exact_source: HP:0004437
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004437
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Excessive growth of the bones of cranium, i.e., of the skull. [https://orcid.org/0000-0002-0736-9199]


description_brief: Craniofacial dysostosis
systematic_name: M36532
exact_source: HP:0004439
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004439
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A characteristic appearance resulting from defective ossification of craniofacial bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elliptocytosis
systematic_name: M36537
exact_source: HP:0004445
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004445
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. [https://orcid.org/0000-0002-0736-9199, PMID:16304353, PMID:21250106]


description_brief: Stomatocytosis
systematic_name: M36538
exact_source: HP:0004446
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004446
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. [https://orcid.org/0000-0002-0736-9199, PMID:16304353]


description_brief: Fulminant hepatic failure
systematic_name: M41298
exact_source: HP:0004448
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004448
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the middle ear ossicles
systematic_name: M36540
exact_source: HP:0004452
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004452
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). [https://orcid.org/0000-0002-0736-9199]


description_brief: Overfolding of the superior helices
systematic_name: M43293
exact_source: HP:0004453
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004453
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which the superior portion of the helix is folded over to a greater degree than normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dilatated internal auditory canal
systematic_name: M36541
exact_source: HP:0004458
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004458
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a dilated inner part of external acoustic meatus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent brainstem auditory responses
systematic_name: M41299
exact_source: HP:0004463
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004463
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of measurable response to stimulation of auditory evoked potentials. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia cutis congenita over the scalp vertex
systematic_name: M36542
exact_source: HP:0004471
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004471
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. [https://orcid.org/0000-0002-0736-9199]


description_brief: Persistent open anterior fontanelle
systematic_name: M46096
exact_source: HP:0004474
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004474
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. [https://orcid.org/0000-0002-0736-9199]


description_brief: Relative macrocephaly
systematic_name: M36544
exact_source: HP:0004482
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004482
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cessation of head growth
systematic_name: M36546
exact_source: HP:0004485
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004485
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Stagnation of head growth seen as flattening of the head circumference curve. [https://orcid.org/0000-0002-0736-9199]


description_brief: Macrocephaly at birth
systematic_name: M36547
exact_source: HP:0004488
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004488
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormally large skull with onset at birth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Large posterior fontanelle
systematic_name: M43294
exact_source: HP:0004491
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004491
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An enlargement of the posterior fontanelle relative to age-dependent norms. [https://orcid.org/0000-0002-0736-9199]


description_brief: Widely patent fontanelles and sutures
systematic_name: M36549
exact_source: HP:0004492
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004492
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased width of the cranial fontanelles and sutures. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bilateral choanal atresia
systematic_name: M45414
exact_source: HP:0004502
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004502
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bilateral absence (atresia) of the posterior nasal aperture (choana). [https://orcid.org/0000-0002-0736-9199]


description_brief: Pancreatic islet-cell hyperplasia
systematic_name: M36551
exact_source: HP:0004510
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004510
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sclerotic vertebral endplates
systematic_name: M36556
exact_source: HP:0004576
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004576
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sclerosis (increased density) affecting vertebral end plates. [https://orcid.org/0000-0002-0736-9199]


description_brief: Biconcave vertebral bodies
systematic_name: M36557
exact_source: HP:0004586
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004586
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thoracic platyspondyly
systematic_name: M45415
exact_source: HP:0004592
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004592
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cervical C2/C3 vertebral fusion
systematic_name: M36559
exact_source: HP:0004602
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004602
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Biconvex vertebral bodies
systematic_name: M43295
exact_source: HP:0004625
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004625
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased facial expression
systematic_name: M36563
exact_source: HP:0004673
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004673
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. [https://orcid.org/0000-0002-0736-9199]


description_brief: Talipes valgus
systematic_name: M36564
exact_source: HP:0004684
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004684
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. [https://orcid.org/0000-0002-0736-9199]


description_brief: Renal malrotation
systematic_name: M36568
exact_source: HP:0004712
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004712
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thickened glomerular basement membrane
systematic_name: M46098
exact_source: HP:0004722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. [https://orcid.org/0000-0002-0736-9199]


description_brief: Calcium nephrolithiasis
systematic_name: M36571
exact_source: HP:0004724
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004724
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of calcium-containing calculi (stones) in the kidneys. [https://orcid.org/0000-0002-0736-9199]


description_brief: Crossed fused renal ectopia
systematic_name: M36573
exact_source: HP:0004736
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004736
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. [https://orcid.org/0000-0002-0736-9199]


description_brief: Atrial flutter
systematic_name: M36575
exact_source: HP:0004749
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004749
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. [https://orcid.org/0000-0002-0736-9199]


description_brief: Permanent atrial fibrillation
systematic_name: M46099
exact_source: HP:0004754
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004754
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. [https://orcid.org/0000-0002-0736-9199, PMID:12860883]


description_brief: Supraventricular tachycardia
systematic_name: M36577
exact_source: HP:0004755
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004755
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Ventricular tachycardia
systematic_name: M36578
exact_source: HP:0004756
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004756
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). []


description_brief: Paroxysmal atrial fibrillation
systematic_name: M36579
exact_source: HP:0004757
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004757
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. [https://orcid.org/0000-0002-0736-9199, PMID:30571060]


description_brief: Esophageal ulceration
systematic_name: M36581
exact_source: HP:0004791
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004791
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Malrotation of small bowel
systematic_name: M36582
exact_source: HP:0004794
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004794
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. [https://orcid.org/0000-0002-0736-9199]


description_brief: Acute myeloid leukemia
systematic_name: M36586
exact_source: HP:0004808
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004808
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of leukemia characterized by overproduction of an early myeloid cell. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neonatal alloimmune thrombocytopenia
systematic_name: M36587
exact_source: HP:0004809
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004809
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Low platelet count associated with maternal platelet-specific alloantibodies. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypersegmentation of neutrophil nuclei
systematic_name: M46102
exact_source: HP:0004821
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004821
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An excessive division of the lobes of the nucleus of a neutrophil. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anisopoikilocytosis
systematic_name: M36588
exact_source: HP:0004823
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004823
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypochromic microcytic anemia
systematic_name: M36589
exact_source: HP:0004840
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004840
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced factor XII activity
systematic_name: M36590
exact_source: HP:0004841
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004841
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. [https://orcid.org/0000-0002-0736-9199]


description_brief: Coombs-positive hemolytic anemia
systematic_name: M36591
exact_source: HP:0004844
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004844
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hemolytic anemia in which the Coombs test is positive. [https://orcid.org/0000-0002-0736-9199]


description_brief: Prolonged bleeding after surgery
systematic_name: M36592
exact_source: HP:0004846
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004846
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bleeding that persists longer than the normal time following a surgical procedure. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intermittent thrombocytopenia
systematic_name: M46103
exact_source: HP:0004854
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004854
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced platelet count that occurs sporadically, i.e., it comes and goes. [https://orcid.org/0000-0002-0736-9199, PMID:8384898]


description_brief: Reduced protein S activity
systematic_name: M43298
exact_source: HP:0004855
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004855
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. [https://orcid.org/0000-0002-0736-9199]


description_brief: Amegakaryocytic thrombocytopenia
systematic_name: M36593
exact_source: HP:0004859
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004859
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired ADP-induced platelet aggregation
systematic_name: M41302
exact_source: HP:0004866
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004866
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. [https://orcid.org/0000-0002-0736-9199, PMID:11413156]


description_brief: Perineal fistula
systematic_name: M36595
exact_source: HP:0004871
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004871
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a fistula between the bowel and the perineum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intercostal muscle weakness
systematic_name: M43299
exact_source: HP:0004878
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004878
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. [https://orcid.org/0000-0002-0736-9199]


description_brief: Respiratory failure requiring assisted ventilation
systematic_name: M36597
exact_source: HP:0004887
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004887
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. [https://orcid.org/0000-0002-7440-8864, PMID:18710593, PMID:28620428]


description_brief: Maturity-onset diabetes of the young
systematic_name: M36601
exact_source: HP:0004904
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004904
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Episodic metabolic acidosis
systematic_name: M46105
exact_source: HP:0004911
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004911
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal oral glucose tolerance
systematic_name: M36606
exact_source: HP:0004924
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004924
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary artery dilatation
systematic_name: M36608
exact_source: HP:0004927
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004927
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal widening of the diameter of the pulmonary artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary artery atresia
systematic_name: M36611
exact_source: HP:0004935
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004935
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Venous thrombosis
systematic_name: M36612
exact_source: HP:0004936
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004936
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary artery aneurysm
systematic_name: M36613
exact_source: HP:0004937
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004937
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tortuous cerebral arteries
systematic_name: M47100
exact_source: HP:0004938
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004938
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Excessive bending, twisting, and winding of a cerebral artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aortic aneurysm
systematic_name: M36614
exact_source: HP:0004942
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004942
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. []


description_brief: Accelerated atherosclerosis
systematic_name: M36615
exact_source: HP:0004943
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004943
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. [PMID:29040156]


description_brief: Dilatation of the cerebral artery
systematic_name: M36616
exact_source: HP:0004944
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004944
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a localized dilatation or ballooning of a cerebral artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Arteriovenous fistula
systematic_name: M36617
exact_source: HP:0004947
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004947
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal connection between an artery and vein. [https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567]


description_brief: Peripheral arterial stenosis
systematic_name: M36619
exact_source: HP:0004950
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004950
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. []


description_brief: Thoracic aorta calcification
systematic_name: M36621
exact_source: HP:0004962
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004962
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta. [https://orcid.org/0000-0002-0736-9199]


description_brief: Calcification of the aorta
systematic_name: M36622
exact_source: HP:0004963
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004963
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Calcification, that is, pathological deposition of calcium salts in the aorta. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated mean arterial pressure
systematic_name: M36625
exact_source: HP:0004972
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004972
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. [PMID:18451345]


description_brief: Mesomelic leg shortening
systematic_name: M46106
exact_source: HP:0004987
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004987
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Shortening of the middle parts of the leg in relation to the upper and terminal segments. [https://orcid.org/0009-0006-4530-3154]


description_brief: Rhizomelic arm shortening
systematic_name: M36629
exact_source: HP:0004991
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004991
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). [https://orcid.org/0000-0002-0736-9199]


description_brief: Slender long bones with narrow diaphyses
systematic_name: M46107
exact_source: HP:0004993
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0004993
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/Hypoplasia of the capital femoral epiphysis
systematic_name: M36630
exact_source: HP:0005003
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005003
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence or underdevelopment of the proximal epiphysis of the femur. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mesomelic arm shortening
systematic_name: M48728
exact_source: HP:0005011
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005011
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Shortening of the middle parts of the arm in relation to the upper and terminal segments. [https://orcid.org/0009-0006-4530-3154]


description_brief: Diaphyseal undertubulation
systematic_name: M36631
exact_source: HP:0005019
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005019
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones. []


description_brief: Shortening of all phalanges of the toes
systematic_name: M36632
exact_source: HP:0005035
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005035
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Developmental hypoplasia (shortening) of all phalanges of the foot. [https://orcid.org/0000-0002-0736-9199]


description_brief: Proximal radio-ulnar synostosis
systematic_name: M36633
exact_source: HP:0005037
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005037
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. [https://orcid.org/0000-0002-0736-9199]


description_brief: Irregular capital femoral epiphysis
systematic_name: M43302
exact_source: HP:0005041
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005041
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Irregular surface of the normally relatively smooth capital femoral epiphysis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Metaphyseal spurs
systematic_name: M41305
exact_source: HP:0005054
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005054
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bony outgrowths that extend laterally from the margin of the metaphysis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Wrist hypermobility
systematic_name: M36635
exact_source: HP:0005072
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005072
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The ability of the wrist joints to move beyond their normal range of motion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal metaphyseal trabeculation
systematic_name: M41306
exact_source: HP:0005089
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005089
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: High-frequency hearing impairment
systematic_name: M36636
exact_source: HP:0005101
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005101
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the vertebral endplates
systematic_name: M36638
exact_source: HP:0005106
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005106
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. [https://orcid.org/0000-0002-0736-9199]


description_brief: Atrial fibrillation
systematic_name: M48729
exact_source: HP:0005110
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005110
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. [https://orcid.org/0000-0002-0736-9199]


description_brief: Supraventricular arrhythmia
systematic_name: M36644
exact_source: HP:0005115
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005115
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Right ventricular dilatation
systematic_name: M41307
exact_source: HP:0005133
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005133
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of the chamber of the right ventricle. [https://orcid.org/0000-0002-0736-9199, PMID:17715105]


description_brief: Abnormal T-wave
systematic_name: M36647
exact_source: HP:0005135
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005135
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ventricular septal hypertrophy
systematic_name: M36648
exact_source: HP:0005144
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005144
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. [http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4, PMID:21349577]


description_brief: Ventricular escape rhythm
systematic_name: M36652
exact_source: HP:0005155
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005155
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). []


description_brief: Concentric hypertrophic cardiomyopathy
systematic_name: M36653
exact_source: HP:0005157
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005157
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Total anomalous pulmonary venous return
systematic_name: M36654
exact_source: HP:0005160
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005160
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Shortened PR interval
systematic_name: M36656
exact_source: HP:0005165
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005165
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. [https://orcid.org/0000-0002-0736-9199]


description_brief: Premature arteriosclerosis
systematic_name: M36657
exact_source: HP:0005177
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005177
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Arteriosclerosis occurring at an age that is younger than usual. [https://orcid.org/0000-0002-0736-9199]


description_brief: Premature coronary artery atherosclerosis
systematic_name: M36658
exact_source: HP:0005181
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005181
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. [PMID:28070240]


description_brief: Prolonged QTc interval
systematic_name: M36659
exact_source: HP:0005184
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005184
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. [PMID:24097136]


description_brief: Synovial lining hyperplasia
systematic_name: M43304
exact_source: HP:0005186
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005186
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically. [PMID:27412524, PMID:30618151]


description_brief: Helicobacter pylori infection
systematic_name: M41308
exact_source: HP:0005202
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005202
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. [PMID:23652324]


description_brief: Pancreatic pseudocyst
systematic_name: M36661
exact_source: HP:0005206
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005206
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Secretory diarrhea
systematic_name: M36662
exact_source: HP:0005208
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005208
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pancreatic calcification
systematic_name: M36663
exact_source: HP:0005213
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005213
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of abnormal calcium deposition lesions in the pancreas. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired mastication
systematic_name: M36664
exact_source: HP:0005216
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005216
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. [PMID:23713640]


description_brief: Abnormal synovial membrane morphology
systematic_name: M36673
exact_source: HP:0005262
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005262
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products. [PMID:27412524]


description_brief: Gastritis
systematic_name: M36674
exact_source: HP:0005263
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005263
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of inflammation of the gastric mucous membrane. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal jejunum morphology
systematic_name: M41310
exact_source: HP:0005265
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005265
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the jejunum, i.e., of the middle section of the small intestine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intestinal polyp
systematic_name: M36676
exact_source: HP:0005266
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005266
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. [https://orcid.org/0000-0002-0736-9199]


description_brief: Miscarriage
systematic_name: M36677
exact_source: HP:0005268
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005268
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Depressed nasal bridge
systematic_name: M36679
exact_source: HP:0005280
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005280
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Posterior positioning of the nasal root in relation to the overall facial profile for age. [PMID:19152422]


description_brief: Carotid artery tortuosity
systematic_name: M48732
exact_source: HP:0005302
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005302
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal tortuous (i.e., twisted) form of the carotid arteries. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cerebral venous thrombosis
systematic_name: M36684
exact_source: HP:0005305
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005305
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. [https://orcid.org/0000-0002-0736-9199]


description_brief: Capillary hemangioma
systematic_name: M36685
exact_source: HP:0005306
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005306
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased pulmonary vascular resistance
systematic_name: M41312
exact_source: HP:0005317
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005317
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. []


description_brief: Disturbance of facial expression
systematic_name: M36686
exact_source: HP:0005324
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005324
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. [https://orcid.org/0000-0003-2958-5076]


description_brief: Progeroid facial appearance
systematic_name: M36687
exact_source: HP:0005328
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005328
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sparse lateral eyebrow
systematic_name: M36688
exact_source: HP:0005338
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005338
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased density/number and/or decreased diameter of lateral eyebrow hairs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal carotid artery morphology
systematic_name: M36691
exact_source: HP:0005344
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005344
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. []


description_brief: Abnormal vena cava morphology
systematic_name: M36692
exact_source: HP:0005345
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005345
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. []


description_brief: Inspiratory stridor
systematic_name: M36694
exact_source: HP:0005348
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005348
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating complement factor I concentration
systematic_name: M36698
exact_source: HP:0005356
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005356
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of the complement component factor I in the blood circulation below the lower limit of normal. [https://emedicine.medscape.com/article/135478-overview]


description_brief: Severe B lymphocytopenia
systematic_name: M36699
exact_source: HP:0005365
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005365
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe form of B lymphocytopenia in which the count of B cells is very low or absent. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of humoral immunity
systematic_name: M36700
exact_source: HP:0005368
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005368
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cellular immunodeficiency
systematic_name: M36701
exact_source: HP:0005374
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005374
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. [http://www.dictionary.com/browse/cellular-immunodeficiency]


description_brief: Recurrent Haemophilus influenzae infections
systematic_name: M36702
exact_source: HP:0005376
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005376
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent protozoan infections
systematic_name: M43308
exact_source: HP:0005386
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005386
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Combined immunodeficiency
systematic_name: M36704
exact_source: HP:0005387
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005387
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. [PMID:23321211]


description_brief: Recurrent opportunistic infections
systematic_name: M41313
exact_source: HP:0005390
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005390
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent candida infections
systematic_name: M36705
exact_source: HP:0005401
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005401
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent bacterial skin infections
systematic_name: M36707
exact_source: HP:0005406
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005406
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased proportion of CD8-positive T cells
systematic_name: M36708
exact_source: HP:0005415
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005415
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating complement factor B concentration
systematic_name: M36709
exact_source: HP:0005416
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005416
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of the complement component factor B in the blood circulation below the lower limit of normal. [https://emedicine.medscape.com/article/135478-overview]


description_brief: Recurrent gram-negative bacterial infections
systematic_name: M36710
exact_source: HP:0005420
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005420
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating complement C3 concentration
systematic_name: M36711
exact_source: HP:0005421
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005421
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Concentration of the complement component C3 in the blood circulation below the lower limit of normal. [https://emedicine.medscape.com/article/135478-overview]


description_brief: Recurrent sinopulmonary infections
systematic_name: M36712
exact_source: HP:0005425
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005425
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent systemic pyogenic infections
systematic_name: M47105
exact_source: HP:0005429
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005429
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. [https://orcid.org/0000-0001-7941-2961]


description_brief: Recurrent Neisserial infections
systematic_name: M36713
exact_source: HP:0005430
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005430
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired T cell function
systematic_name: M36714
exact_source: HP:0005435
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005435
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. [https://orcid.org/0000-0001-7941-2961]


description_brief: Calvarial osteosclerosis
systematic_name: M43310
exact_source: HP:0005450
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005450
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in bone density affecting the calvaria (roof of the skull). [https://orcid.org/0000-0002-0736-9199]


description_brief: Facial hyperostosis
systematic_name: M36717
exact_source: HP:0005465
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005465
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased calvarial ossification
systematic_name: M36719
exact_source: HP:0005474
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005474
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). [https://orcid.org/0000-0001-8612-1062, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481, PMID:31173381]


description_brief: Decreased circulating IgE
systematic_name: M45420
exact_source: HP:0005479
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005479
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally decreased level of immunoglobulin E (IgE) in blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Secondary microcephaly
systematic_name: M36721
exact_source: HP:0005484
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005484
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Prominent metopic ridge
systematic_name: M36722
exact_source: HP:0005487
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005487
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Vertical bony ridge positioned in the midline of the forehead. [https://orcid.org/0000-0002-0736-9199, PMID:19125436]


description_brief: Postnatal macrocephaly
systematic_name: M46111
exact_source: HP:0005490
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005490
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The postnatal development of an abnormally large skull (macrocephaly). [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic myelogenous leukemia
systematic_name: M36724
exact_source: HP:0005506
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005506
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased megakaryocyte count
systematic_name: M36725
exact_source: HP:0005513
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005513
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. [https://orcid.org/0000-0002-0736-9199]


description_brief: Disseminated intravascular coagulation
systematic_name: M36727
exact_source: HP:0005521
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005521
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. [https://orcid.org/0000-0002-0736-9199, PMID:10451465, PMID:11816725]


description_brief: Pyridoxine-responsive sideroblastic anemia
systematic_name: M41318
exact_source: HP:0005522
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005522
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bone marrow hypocellularity
systematic_name: M36730
exact_source: HP:0005528
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005528
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790]


description_brief: Reduced protein C activity
systematic_name: M43311
exact_source: HP:0005543
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005543
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. [https://orcid.org/0000-0002-0736-9199]


description_brief: Myeloproliferative disorder
systematic_name: M36731
exact_source: HP:0005547
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005547
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic lymphatic leukemia
systematic_name: M41319
exact_source: HP:0005550
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005550
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the metopic suture
systematic_name: M36732
exact_source: HP:0005556
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005556
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \metopic suture\. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic leukemia
systematic_name: M36733
exact_source: HP:0005558
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005558
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. [NCIT:C3483]


description_brief: Abnormal bone marrow cell morphology
systematic_name: M36735
exact_source: HP:0005561
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005561
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the form or number of cells in the bone marrow. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790]


description_brief: Absence of renal corticomedullary differentiation
systematic_name: M46113
exact_source: HP:0005564
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005564
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A lack of differentiation between renal cortex and medulla on diagnostic imaging. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced renal corticomedullary differentiation
systematic_name: M41320
exact_source: HP:0005565
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005565
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced differentiation between renal cortex and medulla on diagnostic imaging. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hemolytic-uremic syndrome
systematic_name: M36738
exact_source: HP:0005575
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005575
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. [PMID:19846853, PMID:28416508]


description_brief: Renal cell carcinoma
systematic_name: M36739
exact_source: HP:0005584
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005584
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. [https://orcid.org/0000-0002-0736-9199]


description_brief: Patchy palmoplantar hyperkeratosis
systematic_name: M36742
exact_source: HP:0005588
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005588
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. [https://orcid.org/0000-0002-0736-9199]


description_brief: Congenital giant melanocytic nevus
systematic_name: M48733
exact_source: HP:0005600
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005600
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. [https://orcid.org/0000-0002-0736-9199, PMID:21139903]


description_brief: Accelerated skeletal maturation
systematic_name: M36747
exact_source: HP:0005616
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005616
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thoracolumbar kyphosis
systematic_name: M36748
exact_source: HP:0005619
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005619
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypermobility of interphalangeal joints
systematic_name: M48734
exact_source: HP:0005620
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005620
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The ability of the interphalangeal joints to move beyond their normal range of motion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Broad long bones
systematic_name: M36749
exact_source: HP:0005622
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005622
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cortical sclerosis
systematic_name: M47107
exact_source: HP:0005652
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005652
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Positional foot deformity
systematic_name: M36752
exact_source: HP:0005656
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005656
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. [https://orcid.org/0000-0002-0736-9199]


description_brief: Distal arthrogryposis
systematic_name: M36755
exact_source: HP:0005684
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005684
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. [https://orcid.org/0000-0002-0736-9199, PMID:8923935]


description_brief: Avascular necrosis of the capital femoral epiphysis
systematic_name: M36760
exact_source: HP:0005743
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005743
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. [https://orcid.org/0000-0002-0736-9199, PMID:29481348, PMID:30020602]


description_brief: Lower-limb joint contracture
systematic_name: M36761
exact_source: HP:0005750
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005750
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. []


description_brief: Basilar impression
systematic_name: M36762
exact_source: HP:0005758
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005758
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. [https://orcid.org/0000-0002-0736-9199, PMID:10084535]


description_brief: 2-4 toe cutaneous syndactyly
systematic_name: M48735
exact_source: HP:0005768
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005768
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 the toes 2, 3, and 4. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fifth finger distal phalanx clinodactyly
systematic_name: M48736
exact_source: HP:0005769
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005769
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). [https://orcid.org/0000-0002-0736-9199]


description_brief: Generalized osteosclerosis
systematic_name: M36764
exact_source: HP:0005789
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005789
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase of bone mineral density with generalized involvement of the skeleton. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cortical thickening of long bone diaphyses
systematic_name: M36765
exact_source: HP:0005791
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005791
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal thickening of the cortex of the diaphyseal region of long bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Multiple prenatal fractures
systematic_name: M36767
exact_source: HP:0005855
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005855
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of bone fractures in the prenatal period that are diagnosed at birth or before. [https://orcid.org/0000-0002-0736-9199]


description_brief: Type E brachydactyly
systematic_name: M47108
exact_source: HP:0005863
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005863
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pseudoarthrosis
systematic_name: M36768
exact_source: HP:0005864
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005864
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \false joint\). [https://orcid.org/0000-0002-0736-9199]


description_brief: Metaphyseal chondrodysplasia
systematic_name: M36769
exact_source: HP:0005871
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005871
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. [https://orcid.org/0000-0002-0736-9199, PMID:335375]


description_brief: Congenital finger flexion contractures
systematic_name: M36771
exact_source: HP:0005879
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005879
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Multiple bent (flexed) finger joints that cannot be straightened actively or passively. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal cervical curvature
systematic_name: M36772
exact_source: HP:0005905
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005905
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 cervical vertebral column. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal epiphysis morphology of the phalanges of the hand
systematic_name: M36778
exact_source: HP:0005920
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005920
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of 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: Abnormal epiphysis morphology
systematic_name: M36780
exact_source: HP:0005930
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005930
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal renal corticomedullary differentiation
systematic_name: M36781
exact_source: HP:0005932
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005932
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. [https://orcid.org/0000-0002-0736-9199, PMID:22528889]


description_brief: Temperature instability
systematic_name: M36788
exact_source: HP:0005968
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005968
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. [https://orcid.org/0000-0002-0736-9199]


description_brief: Type II diabetes mellitus
systematic_name: M36789
exact_source: HP:0005978
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005978
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Multinodular goiter
systematic_name: M47111
exact_source: HP:0005987
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005987
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. [https://orcid.org/0000-0002-0538-4547]


description_brief: Congenital muscular torticollis
systematic_name: M36791
exact_source: HP:0005988
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005988
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. [https://orcid.org/0000-0002-0736-9199]


description_brief: Nodular goiter
systematic_name: M36794
exact_source: HP:0005994
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0005994
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. [https://orcid.org/0000-0002-0736-9199]


description_brief: Y-shaped metacarpals
systematic_name: M36796
exact_source: HP:0006042
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006042
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cone-shaped metacarpal epiphyses
systematic_name: M48737
exact_source: HP:0006059
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006059
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 metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Metacarpophalangeal joint contracture
systematic_name: M43319
exact_source: HP:0006070
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006070
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [https://orcid.org/0000-0002-0736-9199]


description_brief: Finger syndactyly
systematic_name: M36798
exact_source: HP:0006101
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006101
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \bony\ Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \Symphalangism\. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent phalangeal crease
systematic_name: M36799
exact_source: HP:0006109
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006109
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). [https://orcid.org/0000-0002-0736-9199]


description_brief: Shortening of all middle phalanges of the fingers
systematic_name: M36800
exact_source: HP:0006110
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006110
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Short, hypoplastic middle phalanx of finger, affecting all fingers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Acral ulceration
systematic_name: M36802
exact_source: HP:0006121
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006121
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. [PMID:20862203]


description_brief: Central Y-shaped metacarpal
systematic_name: M36804
exact_source: HP:0006145
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006145
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Swan neck-like deformities of the fingers
systematic_name: M41324
exact_source: HP:0006150
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006150
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. [https://orcid.org/0000-0002-0736-9199]


description_brief: Proximal symphalangism of hands
systematic_name: M48738
exact_source: HP:0006152
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006152
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. [https://orcid.org/0009-0006-4530-3154]


description_brief: Mesoaxial hand polydactyly
systematic_name: M36805
exact_source: HP:0006159
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006159
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced pancreatic beta cells
systematic_name: M36816
exact_source: HP:0006274
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006274
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced number of beta cells in the pancreatic islets of Langerhans. [https://orcid.org/0000-0002-0736-9199]


description_brief: Enamel hypomineralization
systematic_name: M36818
exact_source: HP:0006285
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006285
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. [https://orcid.org/0000-0002-0736-9199, PMID:31468724]


description_brief: Advanced eruption of teeth
systematic_name: M36820
exact_source: HP:0006288
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006288
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. [https://orcid.org/0000-0002-9338-3017, PMID:19125428]


description_brief: Agenesis of central incisor
systematic_name: M43322
exact_source: HP:0006289
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006289
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. [https://orcid.org/0000-0002-9338-3017]


description_brief: Enamel hypoplasia
systematic_name: M36822
exact_source: HP:0006297
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006297
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Developmental hypoplasia of the dental enamel. [https://orcid.org/0000-0002-9338-3017, PMID:18499550, PMID:31468724]


description_brief: Prolonged bleeding after dental extraction
systematic_name: M36823
exact_source: HP:0006298
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006298
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Prolonged bleeding post dental extraction sufficient to require medical intervention. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-7744-1790]


description_brief: Widely spaced primary teeth
systematic_name: M41331
exact_source: HP:0006313
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006313
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. [https://orcid.org/0000-0002-9338-3017]


description_brief: Solitary median maxillary central incisor
systematic_name: M36824
exact_source: HP:0006315
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006315
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. [PMID:19125428]


description_brief: Premature loss of primary teeth
systematic_name: M36825
exact_source: HP:0006323
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006323
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of the primary (also known as deciduous) teeth before the usual age. [https://orcid.org/0009-0006-4530-3154]


description_brief: Supernumerary maxillary incisor
systematic_name: M36826
exact_source: HP:0006332
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006332
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. [https://orcid.org/0000-0002-9338-3017]


description_brief: Persistence of primary teeth
systematic_name: M36827
exact_source: HP:0006335
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006335
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. [https://orcid.org/0000-0002-9338-3017]


description_brief: Peg-shaped maxillary lateral incisors
systematic_name: M36828
exact_source: HP:0006342
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006342
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Agenesis of permanent teeth
systematic_name: M36829
exact_source: HP:0006349
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006349
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Crumpled long bones
systematic_name: M36832
exact_source: HP:0006367
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006367
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short lower limbs
systematic_name: M36835
exact_source: HP:0006385
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006385
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Shortening of the legs related to developmental hypoplasia of the bones of the leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Overtubulated long bones
systematic_name: M36837
exact_source: HP:0006391
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006391
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limited pronation/supination of forearm
systematic_name: M36839
exact_source: HP:0006394
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006394
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). [https://orcid.org/0000-0002-0736-9199]


description_brief: Broad femoral neck
systematic_name: M36840
exact_source: HP:0006429
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006429
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal proximal femoral metaphysis morphology
systematic_name: M36841
exact_source: HP:0006431
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006431
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the metaphysis of the proximal femur (close to the hip). [https://orcid.org/0000-0002-0736-9199]


description_brief: Proximal femoral epiphysiolysis
systematic_name: M36844
exact_source: HP:0006461
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006461
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal alveolar ridge morphology
systematic_name: M36847
exact_source: HP:0006477
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006477
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Premature loss of teeth
systematic_name: M36848
exact_source: HP:0006480
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006480
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Bowing of the arm
systematic_name: M36853
exact_source: HP:0006488
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006488
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A bending or abnormal curvature affecting a long bone of the arm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/hypoplasia involving bones of the lower limbs
systematic_name: M36856
exact_source: HP:0006493
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006493
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/hypoplasia involving bones of the upper limbs
systematic_name: M36859
exact_source: HP:0006496
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006496
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/hypoplasia involving forearm bones
systematic_name: M36864
exact_source: HP:0006503
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006503
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence (due to failure to form) or underdevelopment of one or more forearm bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/hypoplasia of the humerus
systematic_name: M36866
exact_source: HP:0006507
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006507
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence (due to failure to form) or underdevelopment of the humerus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic pulmonary obstruction
systematic_name: M36867
exact_source: HP:0006510
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006510
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. [PMID:25943942]


description_brief: Laryngeal stridor
systematic_name: M36868
exact_source: HP:0006511
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006511
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intraalveolar phospholipid accumulation
systematic_name: M41336
exact_source: HP:0006517
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006517
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. [https://orcid.org/0000-0002-0736-9199, PMID:21900000, PMID:22891182]


description_brief: Pulmonary lymphangiectasia
systematic_name: M41337
exact_source: HP:0006521
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006521
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic lung disease
systematic_name: M36871
exact_source: HP:0006528
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006528
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. [HPO_CONTRIBUTOR:IMM_tkuijpers]


description_brief: Abnormal pulmonary interstitial morphology
systematic_name: M36872
exact_source: HP:0006530
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006530
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent pneumonia
systematic_name: M36873
exact_source: HP:0006532
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006532
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. [https://orcid.org/0000-0002-0736-9199, PMID:15750465]


description_brief: Recurrent bronchopulmonary infections
systematic_name: M36876
exact_source: HP:0006538
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006538
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary arteriovenous malformation
systematic_name: M48740
exact_source: HP:0006548
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006548
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. [PMID:30386957, PMID:788535]


description_brief: Acute hepatic failure
systematic_name: M36879
exact_source: HP:0006554
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006554
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased hepatocellular lipid droplets
systematic_name: M47116
exact_source: HP:0006565
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006565
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased hepatic glycogen content
systematic_name: M41338
exact_source: HP:0006568
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006568
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in the amount of glycogen stored in hepatocytes compared to normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced number of intrahepatic bile ducts
systematic_name: M47117
exact_source: HP:0006571
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006571
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of reduced numbers of intrahepatic bile duct than normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Prolonged neonatal jaundice
systematic_name: M36885
exact_source: HP:0006579
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006579
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. [https://orcid.org/0000-0002-0736-9199]


description_brief: Portal fibrosis
systematic_name: M36886
exact_source: HP:0006580
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006580
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fibroblast proliferation and fiber expansion from the portal areas to the lobule. [https://orcid.org/0000-0002-0736-9199]


description_brief: Wide intermamillary distance
systematic_name: M48742
exact_source: HP:0006610
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006610
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A larger than usual distance between the left and right nipple. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent sternal ossification
systematic_name: M36890
exact_source: HP:0006628
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006628
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of formation of mineralized bony tissue of the sternum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Multiple rib fractures
systematic_name: M46117
exact_source: HP:0006640
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006640
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thin clavicles
systematic_name: M36892
exact_source: HP:0006645
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006645
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally reduced diameter (cross section) of the clavicles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Prolonged QRS complex
systematic_name: M47118
exact_source: HP:0006677
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006677
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. [https://orcid.org/0000-0002-0736-9199]


description_brief: Premature ventricular contraction
systematic_name: M36896
exact_source: HP:0006682
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006682
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. [https://orcid.org/0000-0002-0736-9199, PMID:30422584, PMID:32063472, PMID:32528299]


description_brief: Endocardial fibrosis
systematic_name: M36897
exact_source: HP:0006685
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006685
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of excessive connective tissue in the endocardium. [https://orcid.org/0000-0002-0736-9199, PMID:29043203]


description_brief: Atrioventricular canal defect
systematic_name: M36899
exact_source: HP:0006695
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006695
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A defect of the atrioventricular septum of the heart. [https://orcid.org/0000-0002-0736-9199, PMID:12632326]


description_brief: Dilatation of the ventricular cavity
systematic_name: M36900
exact_source: HP:0006698
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006698
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. [https://orcid.org/0000-0002-0736-9199]


description_brief: Premature atrial contractions
systematic_name: M41339
exact_source: HP:0006699
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006699
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. []


description_brief: Aplasia/Hypoplasia of the clavicles
systematic_name: M36907
exact_source: HP:0006710
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006710
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence or underdevelopment of the clavicles (collar bones). [https://orcid.org/0000-0002-0736-9199]


description_brief: Acute lymphoblastic leukemia
systematic_name: M36913
exact_source: HP:0006721
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006721
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of acute leukemia characterized by excess lympoblasts. [https://orcid.org/0000-0002-0736-9199]


description_brief: Follicular thyroid carcinoma
systematic_name: M36915
exact_source: HP:0006731
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006731
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an follicular adenocarcinoma of the thyroid gland. [https://orcid.org/0000-0002-0736-9199]


description_brief: Squamous cell carcinoma of the skin
systematic_name: M36916
exact_source: HP:0006739
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006739
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Adrenocortical carcinoma
systematic_name: M36917
exact_source: HP:0006744
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006744
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chondrosarcoma
systematic_name: M36919
exact_source: HP:0006765
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006765
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A slowly growing malignant neoplasm derived from cartilage cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pituitary prolactin cell adenoma
systematic_name: M36921
exact_source: HP:0006767
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006767
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. [https://orcid.org/0000-0002-0538-4547]


description_brief: Duodenal adenocarcinoma
systematic_name: M36922
exact_source: HP:0006771
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006771
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant epithelial tumor with a glandular organization that originates in the duodenum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Renal angiomyolipoma
systematic_name: M41342
exact_source: HP:0006772
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006772
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. [https://orcid.org/0000-0002-0736-9199]


description_brief: Multiple myeloma
systematic_name: M43331
exact_source: HP:0006775
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006775
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant plasma cell tumor growing within soft tissue or within the skeleton. [https://orcid.org/0009-0006-4530-3154]


description_brief: Parathyroid carcinoma
systematic_name: M41343
exact_source: HP:0006780
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006780
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limb-girdle muscular dystrophy
systematic_name: M36926
exact_source: HP:0006785
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006785
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). [https://orcid.org/0000-0002-0736-9199]


description_brief: Cerebral hypomyelination
systematic_name: M36930
exact_source: HP:0006808
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006808
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Focal hemiclonic seizure
systematic_name: M36931
exact_source: HP:0006813
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006813
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. []


description_brief: Frontal polymicrogyria
systematic_name: M46119
exact_source: HP:0006821
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006821
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. [http://www.wikidata.org/entity/Q90573458, PMID:20301504]


description_brief: Severe muscular hypotonia
systematic_name: M36934
exact_source: HP:0006829
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006829
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent patellar reflexes
systematic_name: M46120
exact_source: HP:0006844
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006844
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired distal proprioception
systematic_name: M36937
exact_source: HP:0006858
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006858
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 occuring at distal joints. [https://orcid.org/0000-0002-0736-9199]


description_brief: Severe expressive language delay
systematic_name: M36938
exact_source: HP:0006863
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006863
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [https://orcid.org/0000-0002-6410-0882]


description_brief: Lobar holoprosencephaly
systematic_name: M36939
exact_source: HP:0006870
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006870
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. [HPO_CONTRIBUTOR:GC_HPE]


description_brief: Impaired distal vibration sensation
systematic_name: M36942
exact_source: HP:0006886
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006886
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decrease in the ability to perceive vibration in the distal portions of the limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intellectual disability, progressive
systematic_name: M36943
exact_source: HP:0006887
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006887
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intellectual disability, borderline
systematic_name: M36945
exact_source: HP:0006889
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006889
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. [https://orcid.org/0000-0002-0736-9199, PMID:20537050]


description_brief: Frontotemporal cerebral atrophy
systematic_name: M36946
exact_source: HP:0006892
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006892
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypnopompic hallucination
systematic_name: M48746
exact_source: HP:0006896
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006896
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake. [PMID:27872259]


description_brief: Abducens palsy
systematic_name: M36948
exact_source: HP:0006897
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006897
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. [PMID:29489275]


description_brief: Impaired distal tactile sensation
systematic_name: M36953
exact_source: HP:0006937
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006937
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced sense of touch (tactile sensation) on the skin of the distal limbs. 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 vibration sensation at ankles
systematic_name: M36954
exact_source: HP:0006938
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006938
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent meningitis
systematic_name: M47119
exact_source: HP:0006946
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006946
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Olivopontocerebellar hypoplasia
systematic_name: M36956
exact_source: HP:0006955
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006955
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal auditory evoked potentials
systematic_name: M36959
exact_source: HP:0006958
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006958
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. [https://orcid.org/0000-0002-0736-9199]


description_brief: Periventricular leukomalacia
systematic_name: M36961
exact_source: HP:0006970
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006970
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. [PMID:16808630, PMID:18852342, PMID:28406931]


description_brief: Sleep-wake cycle disturbance
systematic_name: M36962
exact_source: HP:0006979
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006979
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder. [PMID:30725708, PMID:36115370, PMID:36872502]


description_brief: Alobar holoprosencephaly
systematic_name: M46121
exact_source: HP:0006988
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006988
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. [HPO_CONTRIBUTOR:GC_HPE]


description_brief: Dysplastic corpus callosum
systematic_name: M36966
exact_source: HP:0006989
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0006989
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. [https://orcid.org/0000-0002-0736-9199, PMID:21263138]


description_brief: Motor axonal neuropathy
systematic_name: M36970
exact_source: HP:0007002
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007002
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Poor fine motor coordination
systematic_name: M36971
exact_source: HP:0007010
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007010
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. []


description_brief: Poor gross motor coordination
systematic_name: M36972
exact_source: HP:0007015
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007015
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. []


description_brief: Attention deficit hyperactivity disorder
systematic_name: M36974
exact_source: HP:0007018
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007018
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pseudobulbar paralysis
systematic_name: M36977
exact_source: HP:0007024
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007024
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. [https://orcid.org/0009-0006-4530-3154]


description_brief: Cerebral berry aneurysm
systematic_name: M36978
exact_source: HP:0007029
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007029
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cerebellar dysplasia
systematic_name: M36979
exact_source: HP:0007033
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007033
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. [https://orcid.org/0000-0002-0736-9199, PMID:25105227, PMID:27160001]


description_brief: Chronic lymphocytic meningitis
systematic_name: M41350
exact_source: HP:0007041
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007041
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). [PMID:27608867]


description_brief: Distal peripheral sensory neuropathy
systematic_name: M36986
exact_source: HP:0007067
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007067
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Peripheral sensory neuropathy affecting primarily distal sensation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Inferior cerebellar vermis hypoplasia
systematic_name: M36987
exact_source: HP:0007068
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007068
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the inferior portion of the vermis of cerebellum. [https://orcid.org/0000-0002-0736-9199, PMID:16580298]


description_brief: Thick corpus callosum
systematic_name: M36988
exact_source: HP:0007074
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007074
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. [HPO_CONTRIBUTOR:KI_phemming, PMID:10029348]


description_brief: Extrapyramidal muscular rigidity
systematic_name: M36989
exact_source: HP:0007076
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007076
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased amplitude of sensory action potentials
systematic_name: M45422
exact_source: HP:0007078
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007078
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chiari type I malformation
systematic_name: M36994
exact_source: HP:0007099
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007099
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) [https://orcid.org/0000-0002-0736-9199, PMID:28613730]


description_brief: Hypointensity of cerebral white matter on MRI
systematic_name: M36995
exact_source: HP:0007103
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007103
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. [https://orcid.org/0000-0002-0736-9199]


description_brief: Demyelinating peripheral neuropathy
systematic_name: M36997
exact_source: HP:0007108
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007108
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. [https://orcid.org/0000-0002-0736-9199]


description_brief: Proximal amyotrophy
systematic_name: M37001
exact_source: HP:0007126
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007126
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Amyotrophy (muscular atrophy) affecting the proximal musculature. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fluctuations in consciousness
systematic_name: M37006
exact_source: HP:0007159
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007159
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Changes in one's level of awareness and responsiveness to their environment. [PMID:32374025, PMID:34557672]


description_brief: Diffuse demyelination of the cerebral white matter
systematic_name: M48749
exact_source: HP:0007162
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007162
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A diffuse loss of myelin from nerve fibers in the central nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Periventricular heterotopia
systematic_name: M37008
exact_source: HP:0007165
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007165
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. [https://orcid.org/0000-0002-0736-9199, PMID:22427329]


description_brief: Paroxysmal dyskinesia
systematic_name: M37009
exact_source: HP:0007166
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007166
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. [https://orcid.org/0000-0002-0736-9199]


description_brief: Interosseus muscle atrophy
systematic_name: M46123
exact_source: HP:0007181
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007181
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Peripheral hypomyelination
systematic_name: M37011
exact_source: HP:0007182
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007182
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Focal T2 hyperintense basal ganglia lesion
systematic_name: M41351
exact_source: HP:0007183
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007183
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 basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hemimegalencephaly
systematic_name: M37016
exact_source: HP:0007206
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007206
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of all or parts of one cerebral hemisphere. [https://orcid.org/0000-0002-0736-9199, PMID:17416820]


description_brief: Photosensitive tonic-clonic seizure
systematic_name: M43332
exact_source: HP:0007207
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007207
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. [https://orcid.org/0000-0002-0736-9199, PMID:28276060]


description_brief: Facial paralysis
systematic_name: M41352
exact_source: HP:0007209
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007209
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). [https://orcid.org/0000-0002-0736-9199]


description_brief: Intracerebral periventricular calcifications
systematic_name: M46124
exact_source: HP:0007229
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007229
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased distal sensory nerve action potential
systematic_name: M45423
exact_source: HP:0007230
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007230
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. [https://orcid.org/0000-0002-0736-9199]


description_brief: Progressive gait ataxia
systematic_name: M37019
exact_source: HP:0007240
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007240
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of gait ataxia displaying progression of clinical severity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal pyramidal sign
systematic_name: M37020
exact_source: HP:0007256
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007256
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Functional neurological abnormalities related to dysfunction of the pyramidal tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Severe demyelination of the white matter
systematic_name: M37021
exact_source: HP:0007258
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007258
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe loss of myelin from nerve fibers in the central nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Type II lissencephaly
systematic_name: M37022
exact_source: HP:0007260
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007260
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cerebral dysmyelination
systematic_name: M37023
exact_source: HP:0007266
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007266
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Defective structure and function of myelin sheaths of the white matter of the brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic axonal neuropathy
systematic_name: M37024
exact_source: HP:0007267
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007267
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality characterized by chronic impairment of the normal functioning of the axons. [https://orcid.org/0000-0002-0736-9199]


description_brief: Spinal muscular atrophy
systematic_name: M37025
exact_source: HP:0007269
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007269
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [https://orcid.org/0000-0002-0736-9199]


description_brief: Atypical absence seizure
systematic_name: M37026
exact_source: HP:0007270
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007270
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]


description_brief: Developmental stagnation
systematic_name: M37028
exact_source: HP:0007281
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007281
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limb fasciculations
systematic_name: M37029
exact_source: HP:0007289
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007289
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fasciculations affecting the musculature of the arms and legs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Posterior fossa cyst
systematic_name: M37030
exact_source: HP:0007291
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007291
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. [https://orcid.org/0000-0002-0736-9199, PMID:2816648]


description_brief: Oromotor apraxia
systematic_name: M37031
exact_source: HP:0007301
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007301
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control. [PMID:26275812]


description_brief: Bipolar affective disorder
systematic_name: M48750
exact_source: HP:0007302
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007302
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods. []


description_brief: CNS demyelination
systematic_name: M37032
exact_source: HP:0007305
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007305
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A loss of myelin from nerve fibers in the central nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bilateral tonic-clonic seizure with focal onset
systematic_name: M37039
exact_source: HP:0007334
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007334
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276064]


description_brief: Hypermetric saccades
systematic_name: M37040
exact_source: HP:0007338
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007338
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A saccade that overshoots the target with the dynamic saccade. [https://orcid.org/0000-0002-0736-9199, PMID:572501]


description_brief: Abnormal morphology of the limbic system
systematic_name: M37042
exact_source: HP:0007343
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007343
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. []


description_brief: Upper limb postural tremor
systematic_name: M37045
exact_source: HP:0007351
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007351
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of tremors that is triggered by holding an arm in a fixed position. [https://orcid.org/0000-0002-0736-9199]


description_brief: Focal-onset seizure
systematic_name: M37048
exact_source: HP:0007359
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007359
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]


description_brief: Atrophy/Degeneration affecting the cerebrum
systematic_name: M43333
exact_source: HP:0007369
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007369
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal septum pellucidum morphology
systematic_name: M37058
exact_source: HP:0007375
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007375
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal choroid plexus morphology
systematic_name: M37059
exact_source: HP:0007376
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007376
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of somatosensory evoked potentials
systematic_name: M37060
exact_source: HP:0007377
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007377
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neoplasm of the gastrointestinal tract
systematic_name: M48753
exact_source: HP:0007378
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007378
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 gastrointestinal tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neoplasm of the genitourinary tract
systematic_name: M37062
exact_source: HP:0007379
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007379
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 genitourinary system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Facial telangiectasia
systematic_name: M37063
exact_source: HP:0007380
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007380
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia cutis congenita of scalp
systematic_name: M37065
exact_source: HP:0007385
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007385
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect resulting in the congenital absence of skin on the scalp. [https://orcid.org/0000-0002-0736-9199]


description_brief: Macular atrophy
systematic_name: M37069
exact_source: HP:0007401
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007401
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. [https://orcid.org/0000-0003-0986-4123]


description_brief: Discoid lupus rash
systematic_name: M37072
exact_source: HP:0007417
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007417
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. []


description_brief: Spontaneous hematomas
systematic_name: M37074
exact_source: HP:0007420
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007420
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spontaneous development of hematomas (hematoma) or bruises without significant trauma. [https://orcid.org/0000-0003-2945-4463]


description_brief: Generalized edema
systematic_name: M37076
exact_source: HP:0007430
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007430
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Congenital ichthyosiform erythroderma
systematic_name: M37077
exact_source: HP:0007431
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007431
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An ichthyosiform abnormality of the skin with congenital onset. [https://orcid.org/0000-0002-0736-9199]


description_brief: Partial albinism
systematic_name: M37080
exact_source: HP:0007443
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007443
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Palmoplantar blistering
systematic_name: M41353
exact_source: HP:0007446
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007446
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of blistering that affects the skin of the palms of the hands and the soles of the feet. [https://orcid.org/0000-0002-0736-9199]


description_brief: Autoamputation of digits
systematic_name: M47123
exact_source: HP:0007460
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007460
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. []


description_brief: Abnormal dermatoglyphics
systematic_name: M37085
exact_source: HP:0007477
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007477
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Congenital nonbullous ichthyosiform erythroderma
systematic_name: M37086
exact_source: HP:0007479
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007479
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. [https://orcid.org/0009-0006-4530-3154]


description_brief: Recurrent staphylococcal infections
systematic_name: M37089
exact_source: HP:0007499
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007499
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. [https://orcid.org/0000-0001-7941-2961]


description_brief: Follicular hyperkeratosis
systematic_name: M37090
exact_source: HP:0007502
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007502
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Edema of the dorsum of hands
systematic_name: M37092
exact_source: HP:0007514
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007514
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 hands. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reticular hyperpigmentation
systematic_name: M37099
exact_source: HP:0007588
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007588
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased pigmentation of the skin with a netlike (reticular) pattern. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia cutis congenita on trunk or limbs
systematic_name: M43337
exact_source: HP:0007589
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007589
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bilateral single transverse palmar creases
systematic_name: M37100
exact_source: HP:0007598
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007598
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bilateral microphthalmos
systematic_name: M37102
exact_source: HP:0007633
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007633
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental anomaly characterized by abnormal smallness of both eyes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dyschromatopsia
systematic_name: M37103
exact_source: HP:0007641
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007641
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. [HPO_CONTRIBUTOR:DDD_ncarter]


description_brief: Congenital stationary night blindness
systematic_name: M37104
exact_source: HP:0007642
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007642
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal vestibulo-ocular reflex
systematic_name: M37109
exact_source: HP:0007670
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007670
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. [https://orcid.org/0000-0002-0736-9199, PMID:3625219]


description_brief: Undetectable light- and dark-adapted electroretinogram
systematic_name: M37114
exact_source: HP:0007688
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007688
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of the combined rod-and-cone response on electroretinogram. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal pupillary light reflex
systematic_name: M37115
exact_source: HP:0007695
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007695
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ocular anterior segment dysgenesis
systematic_name: M37116
exact_source: HP:0007700
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007700
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. [HPO_CONTRIBUTOR:DDD_ncarter]


description_brief: Paroxysmal involuntary eye movements
systematic_name: M37118
exact_source: HP:0007704
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007704
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sudden-onset episode of abnormal, involuntary eye movements. [https://orcid.org/0000-0002-0736-9199]


description_brief: Uveal melanoma
systematic_name: M37119
exact_source: HP:0007716
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007716
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). [https://orcid.org/0000-0002-0736-9199]


description_brief: Flat cornea
systematic_name: M37120
exact_source: HP:0007720
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007720
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retinal pigment epithelial atrophy
systematic_name: M37121
exact_source: HP:0007722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. [https://orcid.org/0000-0002-0736-9199]


description_brief: Iris hypopigmentation
systematic_name: M37122
exact_source: HP:0007730
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007730
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction in the amount of pigmentation of the iris. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bone spicule pigmentation of the retina
systematic_name: M37124
exact_source: HP:0007737
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007737
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). [https://orcid.org/0000-0002-0736-9199]


description_brief: Macular dystrophy
systematic_name: M37127
exact_source: HP:0007754
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007754
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. [https://orcid.org/0000-0002-0736-9199]


description_brief: Optic disc hypoplasia
systematic_name: M37129
exact_source: HP:0007766
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007766
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired smooth pursuit
systematic_name: M37130
exact_source: HP:0007772
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007772
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vitreoretinopathy
systematic_name: M37131
exact_source: HP:0007773
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007773
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:18179896]


description_brief: Granular macular appearance
systematic_name: M43342
exact_source: HP:0007793
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007793
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. [https://orcid.org/0000-0002-0736-9199]


description_brief: Monochromacy
systematic_name: M37134
exact_source: HP:0007803
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007803
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. [https://orcid.org/0000-0001-8727-6592]


description_brief: Horizontal pendular nystagmus
systematic_name: M37136
exact_source: HP:0007811
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007811
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retinal pigment epithelial mottling
systematic_name: M37137
exact_source: HP:0007814
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007814
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Central heterochromia
systematic_name: M37138
exact_source: HP:0007818
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007818
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Total ophthalmoplegia
systematic_name: M47126
exact_source: HP:0007824
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007824
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Paralysis of both the extrinsic and intrinsic ocular muscles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Punctate opacification of the cornea
systematic_name: M43343
exact_source: HP:0007856
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007856
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Punctate opacification (reduced transparency) of the corneal stroma. [https://orcid.org/0000-0001-8727-6592]


description_brief: Choroidal hemangioma
systematic_name: M47128
exact_source: HP:0007872
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007872
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypopigmentation of the fundus
systematic_name: M37142
exact_source: HP:0007894
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007894
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). [https://orcid.org/0000-0003-0986-4123]


description_brief: Retinal nonattachment
systematic_name: M37143
exact_source: HP:0007899
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007899
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Failure of attachment of the retina during development. [https://orcid.org/0000-0002-0736-9199, PMID:21441919]


description_brief: Vitreous hemorrhage
systematic_name: M37144
exact_source: HP:0007902
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007902
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bleeding within the vitreous compartment of the eye. [https://orcid.org/0000-0003-2945-4463, PMID:16882398]


description_brief: Tractional retinal detachment
systematic_name: M37145
exact_source: HP:0007917
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007917
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes. [https://orcid.org/0000-0002-0736-9199, ISBN-13:978-0199679980]


description_brief: Lacrimal duct aplasia
systematic_name: M37147
exact_source: HP:0007925
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007925
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital defect resulting in absence of the lacrimal duct. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal flash visual evoked potentials
systematic_name: M48757
exact_source: HP:0007928
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007928
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. [https://orcid.org/0000-0002-0736-9199]


description_brief: Peripapillary chorioretinal atrophy
systematic_name: M43344
exact_source: HP:0007950
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007950
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). [https://orcid.org/0000-0002-0736-9199]


description_brief: Remnants of the hyaloid vascular system
systematic_name: M37152
exact_source: HP:0007968
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007968
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lamellar cataract
systematic_name: M46132
exact_source: HP:0007971
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007971
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gaze-evoked horizontal nystagmus
systematic_name: M37154
exact_source: HP:0007979
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007979
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Horizontal nystagmus made apparent by looking to the right or to the left. [https://orcid.org/0000-0002-0736-9199]


description_brief: Peripheral visual field loss
systematic_name: M37157
exact_source: HP:0007994
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0007994
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased corneal reflex
systematic_name: M48758
exact_source: HP:0008000
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008000
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. [https://orcid.org/0000-0002-0736-9199]


description_brief: Peripheral opacification of the cornea
systematic_name: M37162
exact_source: HP:0008011
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008011
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced transparency of the peripheral region of the cornea. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the palpebral fissures
systematic_name: M37168
exact_source: HP:0008050
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008050
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the space between the medial and lateral canthi of the two open eyelids. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retinal fold
systematic_name: M37169
exact_source: HP:0008052
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008052
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/Hypoplasia affecting the anterior segment of the eye
systematic_name: M37175
exact_source: HP:0008062
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008062
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence or underdevelopment of the anterior segment of the eye. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ichthyosis
systematic_name: M37177
exact_source: HP:0008064
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008064
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal blistering of the skin
systematic_name: M37179
exact_source: HP:0008066
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008066
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. [https://orcid.org/0000-0002-0736-9199, PMID:31596619]


description_brief: Hallux varus
systematic_name: M47132
exact_source: HP:0008080
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008080
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. [https://orcid.org/0000-0002-0736-9199]


description_brief: Equinus calcaneus
systematic_name: M37188
exact_source: HP:0008138
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008138
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired epinephrine-induced platelet aggregation
systematic_name: M43346
exact_source: HP:0008148
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008148
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. [https://orcid.org/0000-0002-7744-1790]


description_brief: Periodic hypokalemic paresis
systematic_name: M37189
exact_source: HP:0008153
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008153
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Episodes of muscle weakness associated with reduced levels of potassium in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced factor VII activity
systematic_name: M45426
exact_source: HP:0008169
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008169
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. [https://orcid.org/0000-0002-0736-9199]


description_brief: Primary hyperparathyroidism
systematic_name: M37198
exact_source: HP:0008200
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008200
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced circulating prolactin concentration
systematic_name: M37199
exact_source: HP:0008202
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008202
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199, PMID:23378139]


description_brief: Primary adrenal insufficiency
systematic_name: M37200
exact_source: HP:0008207
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008207
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. [https://orcid.org/0000-0002-0736-9199]


description_brief: Premature ovarian insufficiency
systematic_name: M37202
exact_source: HP:0008209
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008209
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gonadotropin deficiency
systematic_name: M37203
exact_source: HP:0008213
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008213
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). [https://orcid.org/0000-0002-0538-4547]


description_brief: Compensated hypothyroidism
systematic_name: M37206
exact_source: HP:0008223
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008223
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). [PMID:28406057]


description_brief: Elevated circulating follicle stimulating hormone level
systematic_name: M37207
exact_source: HP:0008232
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008232
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevated concentration of follicle-stimulating hormone in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypothalamic hypothyroidism
systematic_name: M37209
exact_source: HP:0008237
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008237
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. [https://orcid.org/0000-0002-0736-9199, PMID:18731015]


description_brief: Pseudohypoaldosteronism
systematic_name: M37211
exact_source: HP:0008242
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008242
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state of renal tubular unresponsiveness or resistance to the action of aldosterone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pituitary hypothyroidism
systematic_name: M41358
exact_source: HP:0008245
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008245
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Adrenocortical adenoma
systematic_name: M37212
exact_source: HP:0008256
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008256
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Adrenocortical adenomas are benign tumors of the adrenal cortex. [https://orcid.org/0000-0002-0736-9199, PMID:17287480]


description_brief: Pancreatic islet cell adenoma
systematic_name: M37214
exact_source: HP:0008261
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008261
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an adenoma of the pancreas with origin in a pancreatic B cell. [https://orcid.org/0000-0002-0736-9199]


description_brief: Unconjugated hyperbilirubinemia
systematic_name: M37215
exact_source: HP:0008282
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008282
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased amount of unconjugated (indirect) bilurubin in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fasting hyperinsulinemia
systematic_name: M37216
exact_source: HP:0008283
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008283
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pituitary corticotropic cell adenoma
systematic_name: M45427
exact_source: HP:0008291
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008291
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Transient hyperphenylalaninemia
systematic_name: M46134
exact_source: HP:0008297
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008297
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased activity of mitochondrial complex II
systematic_name: M37218
exact_source: HP:0008314
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008314
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 II, which is part of the electron transport chain in mitochondria. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired collagen-induced platelet aggregation
systematic_name: M41362
exact_source: HP:0008320
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008320
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. [https://orcid.org/0000-0002-4381-2442]


description_brief: Abnormal light- and dark-adapted electroretinogram
systematic_name: M41363
exact_source: HP:0008323
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008323
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the combined rod-and-cone response on electroretinogram. [https://orcid.org/0000-0002-0736-9199]


description_brief: Distal renal tubular acidosis
systematic_name: M37222
exact_source: HP:0008341
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008341
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased activity of mitochondrial complex IV
systematic_name: M37223
exact_source: HP:0008347
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008347
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 IV, which is part of the electron transport chain in mitochondria. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating IgG2 level
systematic_name: M46137
exact_source: HP:0008348
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008348
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced factor XIII activity
systematic_name: M37225
exact_source: HP:0008357
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008357
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the calcaneus
systematic_name: M37227
exact_source: HP:0008364
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008364
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. [https://orcid.org/0000-0002-0736-9199]


description_brief: Foot joint contracture
systematic_name: M37229
exact_source: HP:0008366
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008366
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. []


description_brief: Tarsal synostosis
systematic_name: M43349
exact_source: HP:0008368
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008368
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal tarsal ossification
systematic_name: M37230
exact_source: HP:0008369
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008369
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 of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dystrophic fingernails
systematic_name: M37235
exact_source: HP:0008391
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008391
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. [https://orcid.org/0000-0002-0736-9199]


description_brief: Subungual hyperkeratosis
systematic_name: M37236
exact_source: HP:0008392
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008392
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A thickening of the stratum corneum in the region beneath the nails. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypoplastic fifth fingernail
systematic_name: M43350
exact_source: HP:0008398
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008398
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ridged fingernail
systematic_name: M37237
exact_source: HP:0008402
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008402
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Longitudinal, linear prominences in the fingernail plate. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Nail dystrophy
systematic_name: M37238
exact_source: HP:0008404
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008404
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. [PMID:19675700]


description_brief: Intervertebral disk degeneration
systematic_name: M46138
exact_source: HP:0008419
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008419
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of degenerative changes of intervertebral disk. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vertebral wedging
systematic_name: M37240
exact_source: HP:0008422
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008422
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anterior beaking of lumbar vertebrae
systematic_name: M46139
exact_source: HP:0008430
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008430
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vertebral arch anomaly
systematic_name: M37242
exact_source: HP:0008438
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008438
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neuropathic spinal arthropathy
systematic_name: M37244
exact_source: HP:0008443
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008443
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures. [PMID:29755231]


description_brief: Narrow vertebral interpedicular distance
systematic_name: M37246
exact_source: HP:0008450
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008450
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. [https://orcid.org/0000-0002-0736-9199]


description_brief: High hypermetropia
systematic_name: M37252
exact_source: HP:0008499
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008499
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe form of hypermetropia with over +5.00 diopters. [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0003-0986-4123]


description_brief: Posterior helix pit
systematic_name: M37258
exact_source: HP:0008523
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008523
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. [PMID:19152421]


description_brief: Congenital sensorineural hearing impairment
systematic_name: M37259
exact_source: HP:0008527
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008527
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormally folded helix
systematic_name: M37260
exact_source: HP:0008544
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008544
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape. [PMID:19152421]


description_brief: Underfolded helix
systematic_name: M43353
exact_source: HP:0008577
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008577
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the helix that either affects the entire helix, or is localized. [PMID:19152421]


description_brief: Hypoplastic helices
systematic_name: M37263
exact_source: HP:0008589
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008589
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the helix, i.e., of the outer rim of the pinna. [https://orcid.org/0000-0002-0736-9199]


description_brief: Prominent antitragus
systematic_name: M41365
exact_source: HP:0008593
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008593
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. [https://orcid.org/0000-0002-0736-9199, PMID:19152421]


description_brief: Abnormal middle ear morphology
systematic_name: M37264
exact_source: HP:0008609
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008609
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the morphology or structure of the middle ear. [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]


description_brief: Infantile sensorineural hearing impairment
systematic_name: M46141
exact_source: HP:0008610
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008610
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of sensorineural hearing impairment with infantile onset. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the stapes
systematic_name: M37266
exact_source: HP:0008628
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008628
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal spermatogenesis
systematic_name: M48761
exact_source: HP:0008669
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008669
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Incomplete maturation or aberrant formation of the male gametes. [https://orcid.org/0000-0002-0736-9199, MP:0001156]


description_brief: Bilateral cryptorchidism
systematic_name: M37273
exact_source: HP:0008689
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008689
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of both testes from the scrotum 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: Renal hamartoma
systematic_name: M37274
exact_source: HP:0008696
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008696
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A disordered proliferation of mature tissues that are native to the kidneys. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-9113-2978]


description_brief: Urethrovaginal fistula
systematic_name: M37276
exact_source: HP:0008716
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008716
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a fistula between the vagina and the urethra. [https://orcid.org/0000-0002-0736-9199]


description_brief: Urethral diverticulum
systematic_name: M43356
exact_source: HP:0008722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a diverticulum (sac or pouch) in the wall of the urethra. [https://orcid.org/0000-0002-0736-9199]


description_brief: Female external genitalia in individual with 46,XY karyotype
systematic_name: M37278
exact_source: HP:0008730
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008730
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of female external genitalia in a person with a male karyotype. [https://orcid.org/0000-0002-0736-9199]


description_brief: Laryngeal cleft
systematic_name: M43357
exact_source: HP:0008751
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008751
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus. [https://orcid.org/0000-0002-0736-9199, PMID:17178945]


description_brief: Abnormal sexual behavior
systematic_name: M41368
exact_source: HP:0008768
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008768
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon. []


description_brief: Obsessive-compulsive trait
systematic_name: M37285
exact_source: HP:0008770
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008770
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/Hypoplasia of the ear
systematic_name: M37286
exact_source: HP:0008771
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008771
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of aplasia or developmental hypoplasia of the ear. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limited hip movement
systematic_name: M37290
exact_source: HP:0008800
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008800
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. [https://orcid.org/0000-0002-0736-9199]


description_brief: Acetabular dysplasia
systematic_name: M37292
exact_source: HP:0008807
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008807
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6670-9157, PMID:23764788, PMID:34377520]


description_brief: Delayed proximal femoral epiphyseal ossification
systematic_name: M43360
exact_source: HP:0008828
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008828
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Developmental delay of ossification of the proximal epiphysis of the femur. [https://orcid.org/0000-0002-0736-9199]


description_brief: Severe intrauterine growth retardation
systematic_name: M37296
exact_source: HP:0008846
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008846
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. [https://orcid.org/0000-0002-0736-9199]


description_brief: Moderately short stature
systematic_name: M43363
exact_source: HP:0008848
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008848
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. [https://orcid.org/0000-0002-6410-0882]


description_brief: Severe postnatal growth retardation
systematic_name: M37298
exact_source: HP:0008850
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008850
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. [https://orcid.org/0000-0002-6410-0882]


description_brief: Failure to thrive secondary to recurrent infections
systematic_name: M37299
exact_source: HP:0008866
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008866
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. [https://en.wikipedia.org/wiki/Failure_to_thrive]


description_brief: Feeding difficulties in infancy
systematic_name: M37300
exact_source: HP:0008872
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008872
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. [https://orcid.org/0000-0002-0736-9199]


description_brief: Disproportionate short-limb short stature
systematic_name: M37301
exact_source: HP:0008873
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008873
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [https://orcid.org/0000-0002-0736-9199]


description_brief: Rhizomelia
systematic_name: M37305
exact_source: HP:0008905
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008905
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). [https://orcid.org/0000-0002-0736-9199]


description_brief: Childhood-onset truncal obesity
systematic_name: M37306
exact_source: HP:0008915
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008915
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neonatal short-limb short stature
systematic_name: M37307
exact_source: HP:0008921
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008921
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of short-limbed dwarfism that is manifest beginning in the neonatal period. [https://orcid.org/0000-0002-0736-9199]


description_brief: Generalized neonatal hypotonia
systematic_name: M37308
exact_source: HP:0008935
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008935
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. [https://orcid.org/0000-0002-0736-9199]


description_brief: Axial hypotonia
systematic_name: M37309
exact_source: HP:0008936
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008936
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pelvic girdle amyotrophy
systematic_name: M46142
exact_source: HP:0008946
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008946
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Infantile muscular hypotonia
systematic_name: M37312
exact_source: HP:0008947
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008947
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intrinsic hand muscle atrophy
systematic_name: M37313
exact_source: HP:0008954
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008954
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Progressive distal muscular atrophy
systematic_name: M48762
exact_source: HP:0008955
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008955
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Progressive muscular atrophy affecting muscles in the distal portions of the extremities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Exercise-induced muscle stiffness
systematic_name: M37316
exact_source: HP:0008967
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0008967
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of muscle stiffness that occurs following physical exertion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Exercise-induced muscle fatigue
systematic_name: M37323
exact_source: HP:0009020
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009020
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased tendency towards muscle fatigue induced by physical exercise. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased connective tissue
systematic_name: M37325
exact_source: HP:0009025
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009025
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormally increased amount of connective tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Foot dorsiflexor weakness
systematic_name: M37326
exact_source: HP:0009027
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009027
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Peroneal muscle atrophy
systematic_name: M37329
exact_source: HP:0009049
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009049
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). [https://orcid.org/0000-0002-0736-9199]


description_brief: Generalized limb muscle atrophy
systematic_name: M37332
exact_source: HP:0009055
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009055
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased muscle lipid content
systematic_name: M37333
exact_source: HP:0009058
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009058
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal accumulation of lipids in skeletal muscle. [https://orcid.org/0000-0002-0736-9199, PMID:20691590]


description_brief: Infantile axial hypotonia
systematic_name: M37334
exact_source: HP:0009062
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009062
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased Achilles reflex
systematic_name: M37337
exact_source: HP:0009072
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009072
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. [https://orcid.org/0000-0002-0736-9199]


description_brief: Progressive proximal muscle weakness
systematic_name: M37338
exact_source: HP:0009073
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009073
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of strength of the proximal muscles that becomes progressively more severe. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic oral candidiasis
systematic_name: M37342
exact_source: HP:0009098
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009098
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. []


description_brief: Anterior open-bite malocclusion
systematic_name: M37344
exact_source: HP:0009102
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009102
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. [https://orcid.org/0000-0002-9338-3017, PMID:27615261]


description_brief: Abnormal ossification of the pubic bone
systematic_name: M37347
exact_source: HP:0009105
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009105
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal pelvis bone ossification
systematic_name: M37348
exact_source: HP:0009106
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009106
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 bony pelvis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Diaphragmatic eventration
systematic_name: M37351
exact_source: HP:0009110
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009110
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/hypoplasia involving the skeleton
systematic_name: M37353
exact_source: HP:0009115
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009115
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/hypoplasia affecting bones of the axial skeleton
systematic_name: M37355
exact_source: HP:0009122
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009122
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal adipose tissue morphology
systematic_name: M37357
exact_source: HP:0009124
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009124
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased adipose tissue
systematic_name: M37359
exact_source: HP:0009126
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009126
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal cerebral artery morphology
systematic_name: M37368
exact_source: HP:0009145
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009145
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the proximal phalanx of the 5th finger
systematic_name: M46146
exact_source: HP:0009150
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009150
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the proximal phalanx of the little (5th) finger. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/Hypoplasia of the middle phalanx of the 5th finger
systematic_name: M48767
exact_source: HP:0009161
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009161
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. [https://orcid.org/0000-0002-0736-9199]


description_brief: Symphalangism of middle phalanx of 5th finger
systematic_name: M48768
exact_source: HP:0009178
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009178
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fusion of the middle phalanx of the 5th finger with another bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Joint contracture of the 5th finger
systematic_name: M37369
exact_source: HP:0009183
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009183
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. [https://orcid.org/0009-0006-4530-3154]


description_brief: Contracture of the proximal interphalangeal joint of the 5th finger
systematic_name: M46147
exact_source: HP:0009185
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009185
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and 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. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pseudoepiphyses of the metacarpals
systematic_name: M37370
exact_source: HP:0009193
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009193
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. [https://orcid.org/0009-0006-4530-3154]


description_brief: Joint contracture of the 4th finger
systematic_name: M46149
exact_source: HP:0009274
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009274
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. [https://orcid.org/0000-0002-0736-9199]


description_brief: Contracture of the proximal interphalangeal joint of the 4th finger
systematic_name: M48770
exact_source: HP:0009276
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009276
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and 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. [https://orcid.org/0000-0002-0736-9199]


description_brief: Finger aplasia
systematic_name: M37373
exact_source: HP:0009380
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009380
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 fingers (i.e., aplasia of one or more fingers). [https://orcid.org/0000-0002-0736-9199]


description_brief: Ulnar deviation of the 2nd finger
systematic_name: M37374
exact_source: HP:0009464
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009464
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Displacement of the 2nd (index) finger towards the ulnar side. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ulnar deviation of finger
systematic_name: M37375
exact_source: HP:0009465
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009465
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Radial deviation of finger
systematic_name: M46154
exact_source: HP:0009466
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009466
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Contracture of the proximal interphalangeal joint of the 3rd finger
systematic_name: M48773
exact_source: HP:0009471
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009471
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Joint contracture of the hand
systematic_name: M41373
exact_source: HP:0009473
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009473
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. [https://orcid.org/0009-0006-4530-3154]


description_brief: Deviation of the hand or of fingers of the hand
systematic_name: M37378
exact_source: HP:0009484
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009484
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Displacement of the hand or of fingers of the hand from their normal position. [https://orcid.org/0000-0002-0736-9199]


description_brief: Radial deviation of the hand
systematic_name: M37380
exact_source: HP:0009486
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009486
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). [https://orcid.org/0000-0002-0736-9199]


description_brief: Ulnar deviation of the hand
systematic_name: M37381
exact_source: HP:0009487
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009487
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Flexion contracture of the 2nd finger
systematic_name: M48775
exact_source: HP:0009537
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009537
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short middle phalanx of the 2nd finger
systematic_name: M41375
exact_source: HP:0009577
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009577
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. [https://orcid.org/0009-0006-4530-3154]


description_brief: Vestibular schwannoma
systematic_name: M47142
exact_source: HP:0009588
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009588
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the vestibulocochlear nerve
systematic_name: M37385
exact_source: HP:0009591
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009591
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing. [https://orcid.org/0000-0002-0736-9199, PMID:30726044]


description_brief: Astrocytoma
systematic_name: M37386
exact_source: HP:0009592
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009592
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retinal hamartoma
systematic_name: M37387
exact_source: HP:0009594
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009594
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thumb contracture
systematic_name: M41376
exact_source: HP:0009600
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009600
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. [https://orcid.org/0000-0002-0736-9199, PMID:16214063, PMID:24975760, PMID:31282072]


description_brief: Duplication of the distal phalanx of the thumb
systematic_name: M37390
exact_source: HP:0009612
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009612
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete or partial duplication of the distal phalanx 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, or two separate bones appearing side to side. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormality of the proximal phalanx of the thumb
systematic_name: M37392
exact_source: HP:0009618
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009618
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the shape or form of the proximal phalanx of the thumb. [https://orcid.org/0000-0002-0736-9199]


description_brief: Contracture of the distal interphalangeal joint of the fingers
systematic_name: M46157
exact_source: HP:0009697
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009697
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Finger symphalangism
systematic_name: M48777
exact_source: HP:0009700
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009700
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal union between bones or parts of bones of the fingers. The synonymous term \symphalangism of the hand\ may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \Symphalangism\ the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \bony\ Syndactyly. [https://orcid.org/0009-0006-4530-3154]


description_brief: Carpal synostosis
systematic_name: M37399
exact_source: HP:0009702
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009702
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic CSF lymphocytosis
systematic_name: M48778
exact_source: HP:0009704
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009704
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chilblains
systematic_name: M37400
exact_source: HP:0009710
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009710
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. [https://orcid.org/0000-0002-0736-9199, PMID:1832531, PMID:22025653]


description_brief: Papillary cystadenoma of the epididymis
systematic_name: M37402
exact_source: HP:0009715
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009715
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. [https://orcid.org/0000-0002-0736-9199, PMID:24441657]


description_brief: Hypomelanotic macule
systematic_name: M43367
exact_source: HP:0009719
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009719
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypomelanotic macules (\ash leaf spots\) are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. [https://orcid.org/0000-0002-0736-9199, PMID:10695583]


description_brief: Adenoma sebaceum
systematic_name: M37403
exact_source: HP:0009720
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009720
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Shagreen patch
systematic_name: M41377
exact_source: HP:0009721
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009721
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather. [https://orcid.org/0000-0002-0736-9199, PMID:10695583]


description_brief: Neoplasm of striated muscle
systematic_name: M37407
exact_source: HP:0009728
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009728
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle. [https://orcid.org/0009-0006-4530-3154]


description_brief: Glioma
systematic_name: M37410
exact_source: HP:0009733
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009733
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). [https://orcid.org/0000-0002-0736-9199]


description_brief: Large earlobe
systematic_name: M37412
exact_source: HP:0009748
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009748
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased volume of the earlobe, that is, abnormally prominent ear lobules. [https://orcid.org/0000-0002-0736-9199, PMID:19152421]


description_brief: Ankyloblepharon
systematic_name: M37414
exact_source: HP:0009755
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009755
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. [PMID:18125427]


description_brief: Popliteal pterygium
systematic_name: M37415
exact_source: HP:0009756
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009756
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). [https://orcid.org/0000-0002-0736-9199]


description_brief: Antecubital pterygium
systematic_name: M46158
exact_source: HP:0009760
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009760
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. [https://orcid.org/0000-0002-0736-9199]


description_brief: Low hanging columella
systematic_name: M37417
exact_source: HP:0009765
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009765
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Columella extending inferior to the level of the nasal base, when viewed from the side. [PMID:19152422]


description_brief: Aplasia/Hypoplasia of the phalanges of the hand
systematic_name: M37418
exact_source: HP:0009767
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009767
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Small or missing phalangeal bones of the fingers of the hand. [https://orcid.org/0000-0002-0736-9199]


description_brief: Amniotic constriction ring
systematic_name: M43368
exact_source: HP:0009775
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009775
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent thumb
systematic_name: M37422
exact_source: HP:0009777
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009777
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Branchial anomaly
systematic_name: M37425
exact_source: HP:0009794
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009794
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Congenital developmental defect arising from the primitive branchial apparatus. [https://orcid.org/0009-0006-4530-3154]


description_brief: Branchial fistula
systematic_name: M37426
exact_source: HP:0009795
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009795
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. [https://orcid.org/0009-0006-4530-3154]


description_brief: Branchial cyst
systematic_name: M37427
exact_source: HP:0009796
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009796
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. [https://orcid.org/0009-0006-4530-3154]


description_brief: Cholesteatoma
systematic_name: M47147
exact_source: HP:0009797
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009797
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. [https://orcid.org/0000-0002-0736-9199]


description_brief: Euthyroid goiter
systematic_name: M46161
exact_source: HP:0009798
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009798
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A goiter that is not associated with functional thyroid abnormalities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Maternal diabetes
systematic_name: M48780
exact_source: HP:0009800
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009800
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Nephrogenic diabetes insipidus
systematic_name: M37431
exact_source: HP:0009806
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009806
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the elbow
systematic_name: M37434
exact_source: HP:0009811
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009811
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the joint that connects the upper and the lower arm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia/hypoplasia of the extremities
systematic_name: M37435
exact_source: HP:0009815
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009815
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence (due to failure to form) or underdevelopment of the extremities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lower limb undergrowth
systematic_name: M37436
exact_source: HP:0009816
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009816
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Leg shortening because of underdevelopment of one or more bones of the lower extremity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Upper limb undergrowth
systematic_name: M37438
exact_source: HP:0009824
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009824
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Arm shortening because of underdevelopment of one or more bones of the upper extremity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limb undergrowth
systematic_name: M37440
exact_source: HP:0009826
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009826
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Limb shortening because of underdevelopment of one or more bones of the extremities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Phocomelia
systematic_name: M37441
exact_source: HP:0009829
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009829
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). [https://orcid.org/0000-0002-0736-9199]


description_brief: Peripheral neuropathy
systematic_name: M37442
exact_source: HP:0009830
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009830
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. [https://orcid.org/0009-0006-4530-3154]


description_brief: Simplified gyral pattern
systematic_name: M37449
exact_source: HP:0009879
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009879
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:22427329]


description_brief: Duplication of the distal phalanx of hand
systematic_name: M37450
exact_source: HP:0009883
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009883
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [https://orcid.org/0009-0006-4530-3154]


description_brief: Tapered distal phalanges of finger
systematic_name: M43370
exact_source: HP:0009884
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009884
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in diameter of the distal phalanx of finger towards the distal end. [https://orcid.org/0000-0002-0736-9199]


description_brief: Trichorrhexis nodosa
systematic_name: M37452
exact_source: HP:0009886
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009886
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of secondary sexual hair
systematic_name: M37454
exact_source: HP:0009888
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0009888
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. [https://orcid.org/0000-0002-0736-9199]


