# gene_set_details

description_brief: Diplopia
systematic_name: M48682
exact_source: HP:0000651
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000651
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased light- and dark-adapted electroretinogram amplitude
systematic_name: M34864
exact_source: HP:0000654
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000654
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Descreased amplitude of eletrical response upon electroretinography. [https://orcid.org/0000-0002-0736-9199]


description_brief: Oculomotor apraxia
systematic_name: M34866
exact_source: HP:0000657
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000657
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. [https://orcid.org/0000-0002-0736-9199, PMID:20615230]


description_brief: Peters anomaly
systematic_name: M34868
exact_source: HP:0000659
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000659
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lipemia retinalis
systematic_name: M34869
exact_source: HP:0000660
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000660
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. [PMID:10379021, PMID:16120862]


description_brief: Horizontal nystagmus
systematic_name: M34871
exact_source: HP:0000666
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000666
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. [https://orcid.org/0000-0002-0736-9199]


description_brief: Phthisis bulbi
systematic_name: M34872
exact_source: HP:0000667
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000667
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypodontia
systematic_name: M34873
exact_source: HP:0000668
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000668
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The absence of five or less teeth from the normal series by a failure to develop. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Carious teeth
systematic_name: M34874
exact_source: HP:0000670
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000670
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anodontia
systematic_name: M34875
exact_source: HP:0000674
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000674
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The absence of all teeth from the normal series by a failure to develop. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Macrodontia of permanent maxillary central incisor
systematic_name: M41222
exact_source: HP:0000675
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000675
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased size of the maxillary central secondary incisor tooth. [https://orcid.org/0000-0002-9338-3017]


description_brief: Oligodontia
systematic_name: M34877
exact_source: HP:0000677
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000677
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The absence of six or more teeth from the normal series by a failure to develop. [PMID:19125428, PMID:31468724]


description_brief: Delayed eruption of teeth
systematic_name: M34880
exact_source: HP:0000684
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000684
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. [https://orcid.org/0000-0002-9338-3017, PMID:19125428, PMID:31468724]


description_brief: Dental malocclusion
systematic_name: M34883
exact_source: HP:0000689
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000689
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. [PMID:31468724]


description_brief: Microdontia
systematic_name: M34884
exact_source: HP:0000691
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000691
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. [https://orcid.org/0000-0002-9338-3017, PMID:19125428]


description_brief: Tooth malposition
systematic_name: M34885
exact_source: HP:0000692
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000692
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. [https://orcid.org/0000-0002-9338-3017]


description_brief: Conical tooth
systematic_name: M34888
exact_source: HP:0000698
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000698
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Amelogenesis imperfecta
systematic_name: M34891
exact_source: HP:0000705
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000705
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental dysplasia of the dental enamel. [https://orcid.org/0000-0002-9338-3017, PMID:18499550]


description_brief: Eruption failure
systematic_name: M34892
exact_source: HP:0000706
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000706
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. [https://orcid.org/0000-0002-9338-3017, PMID:31468724]


description_brief: Psychosis
systematic_name: M34893
exact_source: HP:0000709
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000709
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. []


description_brief: Hyperorality
systematic_name: M41223
exact_source: HP:0000710
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000710
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects. [PMID:29112858]


description_brief: Restlessness
systematic_name: M34894
exact_source: HP:0000711
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000711
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. []


description_brief: Emotional lability
systematic_name: M34895
exact_source: HP:0000712
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000712
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. []


description_brief: Agitation
systematic_name: M43257
exact_source: HP:0000713
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000713
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension. []


description_brief: Depression
systematic_name: M34896
exact_source: HP:0000716
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000716
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. []


description_brief: Autism
systematic_name: M34897
exact_source: HP:0000717
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000717
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). [https://orcid.org/0000-0002-6410-0882]


description_brief: Aggressive behavior
systematic_name: M34898
exact_source: HP:0000718
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000718
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). []


description_brief: Inappropriate behavior
systematic_name: M34899
exact_source: HP:0000719
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000719
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) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature. []


description_brief: Compulsive behaviors
systematic_name: M34901
exact_source: HP:0000722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Behavior that consists of repetitive acts, characterized by the feeling that one \has to\ perform them, while being aware that these acts are not in line with one's overall goal. []


description_brief: Psychotic episodes
systematic_name: M34903
exact_source: HP:0000725
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000725
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder. []


description_brief: Dementia
systematic_name: M34904
exact_source: HP:0000726
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000726
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. [https://orcid.org/0000-0002-0736-9199]


description_brief: Autistic behavior
systematic_name: M34906
exact_source: HP:0000729
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000729
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. [https://orcid.org/0000-0002-0736-9199, PMID:28879490]


description_brief: Inflexible adherence to routines
systematic_name: M48683
exact_source: HP:0000732
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000732
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered. []


description_brief: Motor stereotypy
systematic_name: M34907
exact_source: HP:0000733
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000733
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. []


description_brief: Disinhibition
systematic_name: M34908
exact_source: HP:0000734
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000734
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. []


description_brief: Hallucinations
systematic_name: M34912
exact_source: HP:0000738
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000738
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. []


description_brief: Apathy
systematic_name: M47037
exact_source: HP:0000741
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000741
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed. []


description_brief: Self-mutilation
systematic_name: M34913
exact_source: HP:0000742
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000742
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. [PMID:7754789]


description_brief: Low frustration tolerance
systematic_name: M34914
exact_source: HP:0000744
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000744
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors. []


description_brief: Diminished motivation
systematic_name: M48684
exact_source: HP:0000745
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000745
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. []


description_brief: Delusion
systematic_name: M34916
exact_source: HP:0000746
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000746
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible. []


description_brief: Inappropriate laughter
systematic_name: M34917
exact_source: HP:0000748
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000748
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying). []


description_brief: Lack of insight
systematic_name: M34922
exact_source: HP:0000757
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000757
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an indviduals's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability. []


description_brief: Abnormal nonverbal communicative behavior
systematic_name: M41225
exact_source: HP:0000758
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000758
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication. []


description_brief: Abnormal peripheral nervous system morphology
systematic_name: M34923
exact_source: HP:0000759
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000759
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal thorax morphology
systematic_name: M34926
exact_source: HP:0000765
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000765
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). [https://orcid.org/0000-0002-0736-9199]


description_brief: Pectus excavatum
systematic_name: M34928
exact_source: HP:0000767
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000767
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A defect of the chest wall characterized by a depression of the sternum, giving the chest (\pectus\) a caved-in (\excavatum\) appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pectus carinatum
systematic_name: M34929
exact_source: HP:0000768
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000768
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gynecomastia
systematic_name: M34931
exact_source: HP:0000771
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000771
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal development of large mammary glands in males resulting in breast enlargement. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the diaphragm
systematic_name: M34934
exact_source: HP:0000775
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000775
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal thymus morphology
systematic_name: M34936
exact_source: HP:0000777
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000777
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal scapula morphology
systematic_name: M34937
exact_source: HP:0000782
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000782
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any abnormality of the scapula, also known as the shoulder blade. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hematuria
systematic_name: M48685
exact_source: HP:0000790
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000790
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). [https://orcid.org/0000-0002-0736-9199]


description_brief: Uric acid nephrolithiasis
systematic_name: M43258
exact_source: HP:0000791
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000791
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of uric acid-containing calculi (stones) in the kidneys. [https://orcid.org/0000-0002-0736-9199]


description_brief: Membranoproliferative glomerulonephritis
systematic_name: M34941
exact_source: HP:0000793
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000793
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity [PMID:19908070]


description_brief: Abnormality of the urethra
systematic_name: M34942
exact_source: HP:0000795
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000795
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Oligozoospermia
systematic_name: M34944
exact_source: HP:0000798
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000798
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. [https://orcid.org/0000-0002-0736-9199]


description_brief: Enuresis
systematic_name: M34949
exact_source: HP:0000805
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000805
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. [https://orcid.org/0009-0006-4530-3154]


description_brief: Penoscrotal hypospadias
systematic_name: M34951
exact_source: HP:0000808
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000808
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal internal genitalia
systematic_name: M34953
exact_source: HP:0000812
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000812
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypergonadotropic hypogonadism
systematic_name: M34955
exact_source: HP:0000815
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000815
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypertension
systematic_name: M47041
exact_source: HP:0000822
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000822
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of chronic increased pressure in the systemic arterial system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Delayed puberty
systematic_name: M34960
exact_source: HP:0000823
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000823
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperinsulinemic hypoglycemia
systematic_name: M34961
exact_source: HP:0000825
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000825
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of insulin combined with a decreased concentration of glucose in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypoparathyroidism
systematic_name: M34963
exact_source: HP:0000829
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000829
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Insulin-resistant diabetes mellitus
systematic_name: M34964
exact_source: HP:0000831
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000831
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. [https://orcid.org/0000-0002-0736-9199, PMID:7706500]


description_brief: Primary hypothyroidism
systematic_name: M46059
exact_source: HP:0000832
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000832
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 the thyroid gland. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the adrenal glands
systematic_name: M34965
exact_source: HP:0000834
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000834
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperthyroidism
systematic_name: M34967
exact_source: HP:0000836
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000836
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased circulating gonadotropin level
systematic_name: M34968
exact_source: HP:0000837
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000837
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. [https://orcid.org/0000-0002-0538-4547]


description_brief: Pituitary dwarfism
systematic_name: M34969
exact_source: HP:0000839
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000839
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperactive renin-angiotensin system
systematic_name: M34971
exact_source: HP:0000841
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000841
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperparathyroidism
systematic_name: M34972
exact_source: HP:0000843
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000843
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Excessive production of parathyroid hormone (PTH) by the parathyroid glands. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated circulating growth hormone concentration
systematic_name: M34973
exact_source: HP:0000845
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000845
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Adrenal insufficiency
systematic_name: M34974
exact_source: HP:0000846
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000846
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. [https://orcid.org/0000-0002-0736-9199, PMID:11443143]


description_brief: Insulin resistance
systematic_name: M34982
exact_source: HP:0000855
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000855
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperaldosteronism
systematic_name: M34985
exact_source: HP:0000859
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000859
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Central diabetes insipidus
systematic_name: M34986
exact_source: HP:0000863
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000863
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the hypothalamus-pituitary axis
systematic_name: M34987
exact_source: HP:0000864
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000864
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. [https://orcid.org/0000-0002-0538-4547]


description_brief: Increased circulating prolactin concentration
systematic_name: M34990
exact_source: HP:0000870
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000870
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. [https://orcid.org/0000-0002-0538-4547, https://orcid.org/0000-0002-0736-9199]


description_brief: Panhypopituitarism
systematic_name: M34991
exact_source: HP:0000871
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000871
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). [https://orcid.org/0000-0002-0736-9199, PMID:12466332]


description_brief: Hashimoto thyroiditis
systematic_name: M34992
exact_source: HP:0000872
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000872
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic, autoimmune type of thyroiditis associated with hypothyroidism. [https://orcid.org/0000-0002-0736-9199]


description_brief: Diabetes insipidus
systematic_name: M34993
exact_source: HP:0000873
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000873
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). [https://orcid.org/0000-0002-0736-9199]


description_brief: Oligomenorrhea
systematic_name: M34995
exact_source: HP:0000876
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000876
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Infrequent menses (less than 6 per year or more than 35 days between cycles). [https://orcid.org/0000-0002-0736-9199, PMID:22594864]


description_brief: Horizontal ribs
systematic_name: M35003
exact_source: HP:0000888
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000888
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bifid ribs
systematic_name: M35007
exact_source: HP:0000892
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000892
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lateral clavicle hook
systematic_name: M35009
exact_source: HP:0000895
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000895
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An excessive upward convexity of the lateral clavicle. [https://orcid.org/0000-0002-0736-9199, PMID:7322653]


description_brief: Rachitic rosary
systematic_name: M35010
exact_source: HP:0000897
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000897
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. 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, PMID:26745253]


description_brief: Sprengel anomaly
systematic_name: M35015
exact_source: HP:0000912
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000912
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). [https://orcid.org/0000-0002-0736-9199]


description_brief: Pectus excavatum of inferior sternum
systematic_name: M35017
exact_source: HP:0000915
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000915
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Broad clavicles
systematic_name: M35018
exact_source: HP:0000916
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000916
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased width (cross-sectional diameter) of the clavicles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the costochondral junction
systematic_name: M35019
exact_source: HP:0000919
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000919
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Enlargement of the costochondral junction
systematic_name: M35020
exact_source: HP:0000920
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000920
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Platyspondyly
systematic_name: M35024
exact_source: HP:0000926
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000926
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 between the vertebral endplates. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of skeletal maturation
systematic_name: M35025
exact_source: HP:0000927
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000927
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chondrocalcinosis
systematic_name: M35026
exact_source: HP:0000934
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000934
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . [https://orcid.org/0009-0006-4530-3154]


description_brief: Osteopenia
systematic_name: M35028
exact_source: HP:0000938
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000938
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. [https://orcid.org/0000-0002-0736-9199, PMID:21234807]


description_brief: Osteoporosis
systematic_name: M35029
exact_source: HP:0000939
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000939
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). [https://orcid.org/0000-0002-0736-9199, PMID:28293453]


description_brief: Abnormal diaphysis morphology
systematic_name: M35030
exact_source: HP:0000940
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000940
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal metaphysis morphology
systematic_name: M35032
exact_source: HP:0000944
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000944
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dumbbell-shaped long bone
systematic_name: M35034
exact_source: HP:0000947
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000947
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. [https://orcid.org/0000-0002-0736-9199]


description_brief: Jaundice
systematic_name: M35035
exact_source: HP:0000952
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000952
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperpigmentation of the skin
systematic_name: M35036
exact_source: HP:0000953
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000953
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A darkening of the skin related to an increase in melanin production and deposition. [https://orcid.org/0000-0002-0736-9199]


description_brief: Single transverse palmar crease
systematic_name: M35037
exact_source: HP:0000954
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000954
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. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Acanthosis nigricans
systematic_name: M35038
exact_source: HP:0000956
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000956
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. [https://orcid.org/0000-0003-1773-4011, PMID:19061584]


description_brief: Cafe-au-lait spot
systematic_name: M35039
exact_source: HP:0000957
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000957
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dry skin
systematic_name: M35040
exact_source: HP:0000958
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000958
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Skin characterized by the lack of natural or normal moisture. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cyanosis
systematic_name: M35041
exact_source: HP:0000961
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000961
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. [PMID:25658213]


description_brief: Hyperkeratosis
systematic_name: M35042
exact_source: HP:0000962
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000962
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thin skin
systematic_name: M35043
exact_source: HP:0000963
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000963
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Eczematoid dermatitis
systematic_name: M35044
exact_source: HP:0000964
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000964
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. [https://orcid.org/0000-0002-0736-9199, PMID:32412211]


description_brief: Cutis marmorata
systematic_name: M35045
exact_source: HP:0000965
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000965
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. [https://orcid.org/0009-0006-4530-3154]


description_brief: Petechiae
systematic_name: M35047
exact_source: HP:0000967
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000967
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. [https://orcid.org/0000-0002-0736-9199, PMID:29493956]


description_brief: Ectodermal dysplasia
systematic_name: M35048
exact_source: HP:0000968
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000968
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. [https://orcid.org/0000-0002-0736-9199]


description_brief: Palmoplantar hyperkeratosis
systematic_name: M48687
exact_source: HP:0000972
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000972
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperextensible skin
systematic_name: M35052
exact_source: HP:0000974
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000974
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which the skin can be stretched beyond normal, and then returns to its initial position. [https://orcid.org/0009-0006-4530-3154]


description_brief: Hyperhidrosis
systematic_name: M35053
exact_source: HP:0000975
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000975
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. [https://orcid.org/0000-0002-0736-9199]


description_brief: Soft skin
systematic_name: M35055
exact_source: HP:0000977
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000977
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Subjective impression of increased softness upon palpation of the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bruising susceptibility
systematic_name: M35056
exact_source: HP:0000978
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000978
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. [https://orcid.org/0000-0002-0736-9199]


description_brief: Purpura
systematic_name: M35057
exact_source: HP:0000979
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000979
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Purpura (from Latin: purpura, meaning \purple\) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. [https://orcid.org/0000-0002-0736-9199, PMID:11515831]


description_brief: Pruritus
systematic_name: M35061
exact_source: HP:0000989
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000989
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Xanthomatosis
systematic_name: M35062
exact_source: HP:0000991
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000991
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cutaneous photosensitivity
systematic_name: M35063
exact_source: HP:0000992
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000992
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Molluscoid pseudotumors
systematic_name: M35064
exact_source: HP:0000993
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000993
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. [https://orcid.org/0000-0002-0736-9199]


description_brief: Melanocytic nevus
systematic_name: M35065
exact_source: HP:0000995
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000995
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. [https://orcid.org/0000-0002-0736-9199]


description_brief: Facial capillary hemangioma
systematic_name: M35066
exact_source: HP:0000996
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000996
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. []


description_brief: Axillary freckling
systematic_name: M48689
exact_source: HP:0000997
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000997
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [PMID:12186179]


description_brief: Hypertrichosis
systematic_name: M35068
exact_source: HP:0000998
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000998
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypertrichosis is increased hair growth that is abnormal in quantity or location. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pyoderma
systematic_name: M41227
exact_source: HP:0000999
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0000999
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any manifestation of a skin disease associated with the production of pus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Multiple lentigines
systematic_name: M35071
exact_source: HP:0001003
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001003
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lymphedema
systematic_name: M35072
exact_source: HP:0001004
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001004
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. [https://orcid.org/0009-0006-4530-3154]


description_brief: Hirsutism
systematic_name: M35074
exact_source: HP:0001007
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001007
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). [https://orcid.org/0009-0006-4530-3154]


description_brief: Telangiectasia
systematic_name: M35075
exact_source: HP:0001009
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001009
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypopigmentation of the skin
systematic_name: M35076
exact_source: HP:0001010
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001010
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction of skin color related to a decrease in melanin production and deposition. [https://orcid.org/0000-0002-0736-9199]


description_brief: Multiple lipomas
systematic_name: M35077
exact_source: HP:0001012
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001012
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of multiple lipomas (a type of benign tissue made of fatty tissue). [https://orcid.org/0009-0006-4530-3154]


description_brief: Angiokeratoma
systematic_name: M35078
exact_source: HP:0001014
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001014
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot. [https://orcid.org/0000-0002-0736-9199, PMID:8993949]


description_brief: Anemic pallor
systematic_name: M35079
exact_source: HP:0001017
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001017
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of pallor that is secondary to the presence of anemia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal palmar dermatoglyphics
systematic_name: M35080
exact_source: HP:0001018
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001018
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. [https://orcid.org/0000-0002-0736-9199]


description_brief: Erythroderma
systematic_name: M35081
exact_source: HP:0001019
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001019
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. [https://orcid.org/0000-0002-0736-9199]


description_brief: Albinism
systematic_name: M35082
exact_source: HP:0001022
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001022
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 (reduced or absent) of skin, hair and eye (iris and retina). [https://orcid.org/0009-0006-4530-3154]


description_brief: Urticaria
systematic_name: M35083
exact_source: HP:0001025
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001025
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. [https://orcid.org/0000-0002-0736-9199]


description_brief: Soft, doughy skin
systematic_name: M35084
exact_source: HP:0001027
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001027
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. []


description_brief: Poikiloderma
systematic_name: M35085
exact_source: HP:0001029
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001029
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. [https://orcid.org/0000-0002-0736-9199, PMID:32363096]


description_brief: Absent distal interphalangeal creases
systematic_name: M35088
exact_source: HP:0001032
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001032
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of the distal interphalangeal flexion creases of the fingers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Parakeratosis
systematic_name: M35090
exact_source: HP:0001036
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001036
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Facial erythema
systematic_name: M35091
exact_source: HP:0001041
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001041
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Atopic dermatitis
systematic_name: M35095
exact_source: HP:0001047
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001047
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. [https://orcid.org/0000-0002-0736-9199, PMID:27904186]


description_brief: Cavernous hemangioma
systematic_name: M35096
exact_source: HP:0001048
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001048
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. [https://orcid.org/0000-0002-0736-9199]


description_brief: Seborrheic dermatitis
systematic_name: M35097
exact_source: HP:0001051
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001051
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. [https://orcid.org/0000-0002-0736-9199]


description_brief: Erysipelas
systematic_name: M35100
exact_source: HP:0001055
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001055
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Milia
systematic_name: M35101
exact_source: HP:0001056
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001056
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aplasia cutis congenita
systematic_name: M35102
exact_source: HP:0001057
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001057
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 in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pterygium
systematic_name: M35104
exact_source: HP:0001059
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001059
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. [https://orcid.org/0000-0002-0736-9199]


description_brief: Acne
systematic_name: M35106
exact_source: HP:0001061
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001061
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). [https://orcid.org/0000-0002-0736-9199]


description_brief: Striae distensae
systematic_name: M35108
exact_source: HP:0001065
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001065
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neurofibroma
systematic_name: M35109
exact_source: HP:0001067
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001067
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas. [https://orcid.org/0000-0002-0736-9199, PMID:30969529]


description_brief: Atrophic scars
systematic_name: M35114
exact_source: HP:0001075
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001075
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ectopia lentis
systematic_name: M35118
exact_source: HP:0001083
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001083
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Papilledema
systematic_name: M35119
exact_source: HP:0001085
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001085
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. [https://orcid.org/0000-0002-0736-9199]


description_brief: Developmental glaucoma
systematic_name: M35120
exact_source: HP:0001087
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001087
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. []


description_brief: Brushfield spots
systematic_name: M41228
exact_source: HP:0001088
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001088
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of whitish spots in a ring-like arrangement at the periphery of the iris. [https://orcid.org/0000-0002-0736-9199]


description_brief: Iridocyclitis
systematic_name: M35124
exact_source: HP:0001094
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001094
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Heterochromia iridis
systematic_name: M35126
exact_source: HP:0001100
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001100
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Heterochromia iridis is a difference in the color of the iris in the two eyes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Angioid streaks of the fundus
systematic_name: M35127
exact_source: HP:0001102
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001102
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:30844178]


description_brief: Abnormal macular morphology
systematic_name: M35128
exact_source: HP:0001103
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001103
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. [https://orcid.org/0000-0002-0736-9199, PMID:16255686]


description_brief: Retinal atrophy
systematic_name: M35130
exact_source: HP:0001105
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001105
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 fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. [https://orcid.org/0000-0003-0986-4123]


description_brief: Ocular albinism
systematic_name: M35131
exact_source: HP:0001107
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001107
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 (reduced or absent) of the iris and retina. [https://orcid.org/0000-0002-0736-9199]


description_brief: Posterior polar cataract
systematic_name: M35134
exact_source: HP:0001115
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001115
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A polar cataract that affects the posterior pole of the lens. [https://orcid.org/0000-0002-0736-9199]


description_brief: Macular coloboma
systematic_name: M41230
exact_source: HP:0001116
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001116
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. [https://orcid.org/0000-0001-8727-6592, PMID:15069441]


description_brief: Sudden loss of visual acuity
systematic_name: M35135
exact_source: HP:0001117
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001117
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Juvenile cataract
systematic_name: M35136
exact_source: HP:0001118
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001118
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of cataract that is not apparent at birth but that arises in childhood or adolescence. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cryptophthalmos
systematic_name: M35140
exact_source: HP:0001126
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001126
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. [https://orcid.org/0000-0002-0736-9199, PMID:19125427]


description_brief: Corneal dystrophy
systematic_name: M35141
exact_source: HP:0001131
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001131
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. [https://orcid.org/0000-0002-0736-9199]


description_brief: Constriction of peripheral visual field
systematic_name: M35143
exact_source: HP:0001133
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001133
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. [https://orcid.org/0000-0003-0986-4123]


description_brief: Anterior polar cataract
systematic_name: M46062
exact_source: HP:0001134
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001134
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A polar cataract that affects the anterior pole of the lens. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retinal arteriolar tortuosity
systematic_name: M35145
exact_source: HP:0001136
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001136
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an increased number of twists and turns of the retinal arterioles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limbal dermoid
systematic_name: M35149
exact_source: HP:0001140
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001140
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). [https://orcid.org/0000-0002-0736-9199]


description_brief: Severely reduced visual acuity
systematic_name: M35150
exact_source: HP:0001141
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001141
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. [PMID:28779882]


description_brief: Lenticonus
systematic_name: M41231
exact_source: HP:0001142
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001142
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. [HPO_CONTRIBUTOR:DDD_ncarter]


description_brief: Retinal exudate
systematic_name: M35152
exact_source: HP:0001147
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001147
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired horizontal smooth pursuit
systematic_name: M35153
exact_source: HP:0001151
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001151
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. [https://orcid.org/0000-0002-0736-9199]


description_brief: Saccadic smooth pursuit
systematic_name: M35154
exact_source: HP:0001152
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001152
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. [https://orcid.org/0000-0002-0736-9199]


description_brief: Septate vagina
systematic_name: M35155
exact_source: HP:0001153
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001153
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. [https://orcid.org/0000-0002-0736-9199]


description_brief: Brachydactyly
systematic_name: M35156
exact_source: HP:0001156
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001156
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. [https://orcid.org/0000-0002-0736-9199]


description_brief: Syndactyly
systematic_name: M35157
exact_source: HP:0001159
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001159
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Webbing or fusion of the fingers or toes, 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 or toes in a proximo-distal axis are referred to as \symphalangism\. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hand polydactyly
systematic_name: M41232
exact_source: HP:0001161
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001161
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. [https://orcid.org/0000-0002-0736-9199]


description_brief: Postaxial hand polydactyly
systematic_name: M35158
exact_source: HP:0001162
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001162
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). [https://orcid.org/0009-0006-4530-3154]


description_brief: Broad palm
systematic_name: M35161
exact_source: HP:0001169
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001169
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 above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Preaxial hand polydactyly
systematic_name: M35164
exact_source: HP:0001177
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001177
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ulnar claw
systematic_name: M35165
exact_source: HP:0001178
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001178
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Adducted thumb
systematic_name: M35167
exact_source: HP:0001181
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001181
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. [https://orcid.org/0000-0002-6670-9157, PMID:16235349, PMID:19125433]


description_brief: Hyperextensibility of the finger joints
systematic_name: M35169
exact_source: HP:0001187
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001187
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The ability of the finger joints to move beyond their normal range of motion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hand clenching
systematic_name: M35170
exact_source: HP:0001188
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001188
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted. [https://orcid.org/0009-0006-4530-3154, PMID:10085502, PMID:16702456, PMID:27638597]


description_brief: Abnormal carpal morphology
systematic_name: M35171
exact_source: HP:0001191
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001191
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormalities of placenta or umbilical cord
systematic_name: M35173
exact_source: HP:0001194
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001194
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of prenatal development or birth
systematic_name: M35175
exact_source: HP:0001197
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001197
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Triphalangeal thumb
systematic_name: M35176
exact_source: HP:0001199
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001199
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Delayed ossification of carpal bones
systematic_name: M35180
exact_source: HP:0001216
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001216
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Ossification of carpal bones occurs later than age-adjusted norms. [https://orcid.org/0000-0002-0736-9199]


description_brief: Clubbing
systematic_name: M35181
exact_source: HP:0001217
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001217
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. [https://orcid.org/0009-0006-4530-3154, PMID:19125433]


description_brief: Autoamputation
systematic_name: M35182
exact_source: HP:0001218
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001218
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology. [https://orcid.org/0000-0002-0736-9199, PMID:31633102]


description_brief: Abnormality of the thenar eminence
systematic_name: M35183
exact_source: HP:0001227
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001227
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hitchhiker thumb
systematic_name: M46063
exact_source: HP:0001234
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001234
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Slender finger
systematic_name: M35187
exact_source: HP:0001238
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001238
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. [PMID:19125433]


description_brief: Wrist flexion contracture
systematic_name: M35188
exact_source: HP:0001239
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001239
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. [https://orcid.org/0000-0002-0736-9199]


description_brief: Small thenar eminence
systematic_name: M41233
exact_source: HP:0001245
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001245
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Lethargy
systematic_name: M35190
exact_source: HP:0001254
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001254
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. []


description_brief: Intellectual disability, mild
systematic_name: M35191
exact_source: HP:0001256
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001256
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. [https://orcid.org/0000-0002-0736-9199]


description_brief: Spasticity
systematic_name: M35192
exact_source: HP:0001257
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001257
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Coma
systematic_name: M35194
exact_source: HP:0001259
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001259
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. [PMID:33218655]


description_brief: Dysarthria
systematic_name: M35195
exact_source: HP:0001260
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001260
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. [https://orcid.org/0000-0002-0736-9199]


description_brief: Spastic diplegia
systematic_name: M35197
exact_source: HP:0001264
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001264
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyporeflexia
systematic_name: M35198
exact_source: HP:0001265
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001265
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduction of neurologic reflexes such as the knee-jerk reaction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Choreoathetosis
systematic_name: M35199
exact_source: HP:0001266
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001266
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). [https://orcid.org/0000-0002-0736-9199]


description_brief: Mental deterioration
systematic_name: M35200
exact_source: HP:0001268
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001268
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of previously present mental abilities, generally in adults. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hemiparesis
systematic_name: M35201
exact_source: HP:0001269
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001269
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 complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. [HPO_CONTRIBUTOR:UKB_tklockgether, https://orcid.org/0000-0002-0736-9199]


description_brief: Motor delay
systematic_name: M35202
exact_source: HP:0001270
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001270
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of Developmental delay characterized by a delay in acquiring motor skills. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cerebellar atrophy
systematic_name: M35204
exact_source: HP:0001272
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001272
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. [https://orcid.org/0000-0002-0736-9199, PMID:12169461, PMID:26331051]


description_brief: Agenesis of corpus callosum
systematic_name: M35206
exact_source: HP:0001274
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001274
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypertonia
systematic_name: M35207
exact_source: HP:0001276
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001276
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. [https://orcid.org/0000-0002-0736-9199]


description_brief: Orthostatic hypotension
systematic_name: M35208
exact_source: HP:0001278
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001278
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. [https://orcid.org/0000-0002-0736-9199]


description_brief: Syncope
systematic_name: M35209
exact_source: HP:0001279
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001279
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. [https://orcid.org/0000-0002-0736-9199, PMID:29255499]


description_brief: Tetany
systematic_name: M35210
exact_source: HP:0001281
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001281
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. []


description_brief: Bulbar palsy
systematic_name: M35211
exact_source: HP:0001283
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001283
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Areflexia
systematic_name: M35212
exact_source: HP:0001284
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001284
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of neurologic reflexes such as the knee-jerk reaction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gait disturbance
systematic_name: M35215
exact_source: HP:0001288
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001288
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. [https://orcid.org/0000-0002-0736-9199, PMID:27770207]


description_brief: Generalized hypotonia
systematic_name: M35217
exact_source: HP:0001290
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001290
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Generalized muscular hypotonia (abnormally low muscle tone). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal cranial nerve morphology
systematic_name: M35218
exact_source: HP:0001291
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001291
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. [https://orcid.org/0000-0002-0736-9199]


description_brief: Stroke
systematic_name: M35220
exact_source: HP:0001297
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001297
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Encephalopathy
systematic_name: M35221
exact_source: HP:0001298
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001298
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [HPO_CONTRIBUTOR:KI_phemming, https://orcid.org/0000-0002-0736-9199]


description_brief: Parkinsonism
systematic_name: M35222
exact_source: HP:0001300
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001300
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. [https://orcid.org/0000-0002-0736-9199]


description_brief: Torsion dystonia
systematic_name: M35223
exact_source: HP:0001304
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001304
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dysmetria
systematic_name: M35225
exact_source: HP:0001310
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001310
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal nervous system electrophysiology
systematic_name: M35226
exact_source: HP:0001311
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001311
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. [https://orcid.org/0000-0002-0736-9199]


description_brief: Giant somatosensory evoked potentials
systematic_name: M35227
exact_source: HP:0001312
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001312
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced tendon reflexes
systematic_name: M35228
exact_source: HP:0001315
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001315
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. [https://orcid.org/0000-0002-0736-9199, PMID:20941667]


description_brief: Neonatal hypotonia
systematic_name: M35229
exact_source: HP:0001319
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001319
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. [https://orcid.org/0000-0002-0736-9199]


description_brief: EEG with irregular generalized spike and wave complexes
systematic_name: M35233
exact_source: HP:0001326
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001326
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. [HPO_CONTRIBUTOR:jalbers]


description_brief: Specific learning disability
systematic_name: M35235
exact_source: HP:0001328
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001328
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absent septum pellucidum
systematic_name: M41234
exact_source: HP:0001331
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001331
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. [https://orcid.org/0000-0002-0736-9199, PMID:30725733]


description_brief: Dystonia
systematic_name: M35236
exact_source: HP:0001332
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001332
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. [https://orcid.org/0000-0002-0736-9199]


description_brief: Communicating hydrocephalus
systematic_name: M35237
exact_source: HP:0001334
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001334
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199]


description_brief: Myoclonus
systematic_name: M35239
exact_source: HP:0001336
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001336
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. [https://orcid.org/0000-0002-0736-9199, PMID:20589866]


description_brief: Tremor
systematic_name: M35240
exact_source: HP:0001337
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001337
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unintentional, oscillating to-and-fro muscle movement about a joint axis. [https://orcid.org/0000-0002-0736-9199, PMID:16344298, PMID:20589866]


description_brief: Partial agenesis of the corpus callosum
systematic_name: M35241
exact_source: HP:0001338
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001338
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A partial failure of the development of the corpus callosum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lissencephaly
systematic_name: M35242
exact_source: HP:0001339
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001339
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28440899]


description_brief: Absent speech
systematic_name: M35244
exact_source: HP:0001344
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001344
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Complete lack of development of speech and language abilities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Psychotic mentation
systematic_name: M35245
exact_source: HP:0001345
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001345
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors. []


description_brief: Hyperreflexia
systematic_name: M35246
exact_source: HP:0001347
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001347
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Brisk reflexes
systematic_name: M35247
exact_source: HP:0001348
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001348
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. []


description_brief: Facial diplegia
systematic_name: M35248
exact_source: HP:0001349
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001349
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). [https://orcid.org/0000-0002-0736-9199]


description_brief: Megalencephaly
systematic_name: M35250
exact_source: HP:0001355
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001355
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:28658095, PMID:29594439]


description_brief: Plagiocephaly
systematic_name: M35251
exact_source: HP:0001357
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001357
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. [PMID:19125436]


description_brief: Holoprosencephaly
systematic_name: M35252
exact_source: HP:0001360
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001360
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Nystagmus-induced head nodding
systematic_name: M35253
exact_source: HP:0001361
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001361
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. [https://orcid.org/0000-0002-0736-9199]


description_brief: Calvarial skull defect
systematic_name: M35254
exact_source: HP:0001362
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001362
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. [https://orcid.org/0000-0002-0736-9199]


description_brief: Craniosynostosis
systematic_name: M35255
exact_source: HP:0001363
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001363
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal joint morphology
systematic_name: M35256
exact_source: HP:0001367
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001367
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. [https://orcid.org/0000-0002-0736-9199]


description_brief: Rheumatoid arthritis
systematic_name: M35258
exact_source: HP:0001370
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001370
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limitation of joint mobility
systematic_name: M35261
exact_source: HP:0001376
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001376
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the freedom of movement of one or more joints. [https://orcid.org/0000-0002-0736-9199]


description_brief: Joint hypermobility
systematic_name: M35263
exact_source: HP:0001382
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001382
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. [https://orcid.org/0000-0002-0736-9199, PMID:28145606]


description_brief: Joint stiffness
systematic_name: M35266
exact_source: HP:0001387
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001387
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cirrhosis
systematic_name: M35269
exact_source: HP:0001394
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001394
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hepatic fibrosis
systematic_name: M35270
exact_source: HP:0001395
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001395
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hepatocellular carcinoma
systematic_name: M35273
exact_source: HP:0001402
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001402
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. [https://orcid.org/0000-0002-0736-9199]


description_brief: Macrovesicular hepatic steatosis
systematic_name: M35274
exact_source: HP:0001403
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001403
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Periportal fibrosis
systematic_name: M41235
exact_source: HP:0001405
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001405
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of fibrosis affecting the interlobular stroma of liver. [https://orcid.org/0000-0002-0736-9199]


description_brief: Micronodular cirrhosis
systematic_name: M35279
exact_source: HP:0001413
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001413
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of cirrhosis characterized by the presence of small regenerative nodules. [https://orcid.org/0000-0002-0736-9199]


description_brief: Microvesicular hepatic steatosis
systematic_name: M35280
exact_source: HP:0001414
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001414
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. [https://orcid.org/0000-0002-0736-9199]


description_brief: X-linked inheritance
systematic_name: M46064
exact_source: HP:0001417
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001417
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [https://orcid.org/0000-0002-0736-9199]


description_brief: X-linked recessive inheritance
systematic_name: M35281
exact_source: HP:0001419
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001419
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [https://orcid.org/0000-0002-0736-9199]


description_brief: X-linked dominant inheritance
systematic_name: M35283
exact_source: HP:0001423
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001423
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Non-Mendelian inheritance
systematic_name: M35285
exact_source: HP:0001426
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001426
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mode of inheritance that depends on genetic determinants in more than one gene. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mitochondrial inheritance
systematic_name: M35286
exact_source: HP:0001427
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001427
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal abdomen morphology
systematic_name: M35293
exact_source: HP:0001438
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001438
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. [https://orcid.org/0000-0002-0736-9199]


description_brief: Typified by somatic mosaicism
systematic_name: M35295
exact_source: HP:0001442
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001442
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. [https://orcid.org/0000-0002-0736-9199, PMID:12360233]


description_brief: Y-linked inheritance
systematic_name: M35297
exact_source: HP:0001450
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001450
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. [https://orcid.org/0000-0002-0736-9199]


description_brief: Delayed closure of the anterior fontanelle
systematic_name: M35302
exact_source: HP:0001476
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001476
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. [https://orcid.org/0000-0002-0736-9199]


description_brief: Freckling
systematic_name: M35303
exact_source: HP:0001480
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001480
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. []


description_brief: Subcutaneous nodule
systematic_name: M35304
exact_source: HP:0001482
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001482
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Slightly elevated lesions on or in the skin with a diameter of over 5 mm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Congenital fibrosis of extraocular muscles
systematic_name: M45398
exact_source: HP:0001491
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001491
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. [https://orcid.org/0000-0002-0736-9199]


description_brief: Falciform retinal fold
systematic_name: M45399
exact_source: HP:0001493
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001493
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. [https://orcid.org/0000-0002-0736-9199]


description_brief: Failure to thrive
systematic_name: M35308
exact_source: HP:0001508
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001508
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intrauterine growth retardation
systematic_name: M35309
exact_source: HP:0001511
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001511
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. [https://orcid.org/0000-0002-0736-9199]


description_brief: Small for gestational age
systematic_name: M35310
exact_source: HP:0001518
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001518
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. [https://orcid.org/0000-0002-6410-0882]


description_brief: Disproportionate tall stature
systematic_name: M35311
exact_source: HP:0001519
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001519
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6410-0882]


description_brief: Large for gestational age
systematic_name: M35312
exact_source: HP:0001520
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001520
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. [eMedicine:262679, https://orcid.org/0000-0002-0736-9199]


description_brief: Mild postnatal growth retardation
systematic_name: M35316
exact_source: HP:0001530
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001530
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. [https://orcid.org/0000-0002-6410-0882]


description_brief: Slender build
systematic_name: M35318
exact_source: HP:0001533
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001533
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. [https://orcid.org/0000-0002-0736-9199]


description_brief: Omphalocele
systematic_name: M35320
exact_source: HP:0001539
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001539
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. [https://orcid.org/0000-0002-0736-9199]


description_brief: Diastasis recti
systematic_name: M35321
exact_source: HP:0001540
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001540
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). [https://orcid.org/0000-0002-0736-9199]


description_brief: Overgrowth
systematic_name: M35325
exact_source: HP:0001548
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001548
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal umbilicus morphology
systematic_name: M35327
exact_source: HP:0001551
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001551
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the structure or appearance of the umbilicus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Barrel-shaped chest
systematic_name: M35328
exact_source: HP:0001552
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001552
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Asymmetry of the thorax
systematic_name: M35329
exact_source: HP:0001555
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001555
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of symmetry between the left and right halves of the thorax. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the amniotic fluid
systematic_name: M35331
exact_source: HP:0001560
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001560
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Polyhydramnios
systematic_name: M35332
exact_source: HP:0001561
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001561
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of excess amniotic fluid in the uterus during pregnancy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fetal polyuria
systematic_name: M35334
exact_source: HP:0001563
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001563
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased production of urine by the fetus resulting in polyhydramnios. [https://orcid.org/0000-0002-0736-9199, PMID:21460147]


description_brief: Widely-spaced maxillary central incisors
systematic_name: M46065
exact_source: HP:0001566
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001566
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased distance between the maxillary central permanent incisor tooth. [https://orcid.org/0000-0002-9338-3017]


description_brief: Macrodontia
systematic_name: M35336
exact_source: HP:0001572
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001572
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. [https://orcid.org/0000-0002-9338-3017, PMID:19125428]


description_brief: Primary hypercortisolism
systematic_name: M41238
exact_source: HP:0001579
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001579
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. [https://orcid.org/0000-0002-0736-9199]


description_brief: Redundant skin
systematic_name: M35339
exact_source: HP:0001582
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001582
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loose and sagging skin often associated with loss of skin elasticity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Rotary nystagmus
systematic_name: M35340
exact_source: HP:0001583
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001583
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of nystagmus in which the eyeball makes rotary motions around the axis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bell-shaped thorax
systematic_name: M35341
exact_source: HP:0001591
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001591
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. [https://orcid.org/0000-0002-0736-9199]


description_brief: Selective tooth agenesis
systematic_name: M35342
exact_source: HP:0001592
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001592
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Agenesis specifically affecting one of the classes incisor, premolar, or molar. [https://orcid.org/0000-0002-9338-3017]


description_brief: Alopecia
systematic_name: M35343
exact_source: HP:0001596
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001596
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A noncongenital process of hair loss, which may progress to partial or complete baldness. [PMID:14676077]


description_brief: Laryngomalacia
systematic_name: M35347
exact_source: HP:0001601
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001601
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. [https://orcid.org/0000-0002-0736-9199]


description_brief: Laryngeal stenosis
systematic_name: M35348
exact_source: HP:0001602
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001602
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hoarse voice
systematic_name: M35353
exact_source: HP:0001609
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001609
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypernasal speech
systematic_name: M35354
exact_source: HP:0001611
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001611
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. []


description_brief: Dysphonia
systematic_name: M35357
exact_source: HP:0001618
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001618
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. []


description_brief: Premature birth
systematic_name: M35360
exact_source: HP:0001622
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001622
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The birth of a baby of less than 37 weeks of gestational age. [https://orcid.org/0000-0002-0736-9199]


description_brief: Breech presentation
systematic_name: M35361
exact_source: HP:0001623
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001623
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mitral valve prolapse
systematic_name: M41240
exact_source: HP:0001634
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001634
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Congestive heart failure
systematic_name: M35364
exact_source: HP:0001635
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001635
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tetralogy of Fallot
systematic_name: M35365
exact_source: HP:0001636
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001636
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypertrophic cardiomyopathy
systematic_name: M35367
exact_source: HP:0001639
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001639
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. [PMID:17916581]


description_brief: Cardiomegaly
systematic_name: M35368
exact_source: HP:0001640
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001640
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. [https://orcid.org/0000-0002-0736-9199, PMID:31194436]


description_brief: Pulmonic stenosis
systematic_name: M35370
exact_source: HP:0001642
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001642
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). [https://orcid.org/0000-0002-0736-9199]


description_brief: Patent ductus arteriosus
systematic_name: M35371
exact_source: HP:0001643
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001643
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. [https://orcid.org/0000-0002-0736-9199, PMID:20421261]


description_brief: Dilated cardiomyopathy
systematic_name: M35372
exact_source: HP:0001644
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001644
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. [PMID:17916581]


description_brief: Cor pulmonale
systematic_name: M35375
exact_source: HP:0001648
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001648
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tachycardia
systematic_name: M35376
exact_source: HP:0001649
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001649
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A rapid heartrate that exceeds the range of the normal resting heartrate for age. [https://orcid.org/0000-0002-0736-9199]


description_brief: Patent foramen ovale
systematic_name: M35379
exact_source: HP:0001655
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001655
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Prolonged QT interval
systematic_name: M47048
exact_source: HP:0001657
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001657
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [https://orcid.org/0000-0002-0736-9199]


description_brief: Aortic regurgitation
systematic_name: M35381
exact_source: HP:0001659
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001659
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Truncus arteriosus
systematic_name: M35382
exact_source: HP:0001660
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001660
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Bradycardia
systematic_name: M35383
exact_source: HP:0001662
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001662
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A slower than normal heart rate (in adults, slower than 60 beats per minute). [https://orcid.org/0000-0002-0736-9199]


description_brief: Ventricular fibrillation
systematic_name: M35384
exact_source: HP:0001663
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001663
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. [https://orcid.org/0000-0002-0736-9199]


description_brief: Torsade de pointes
systematic_name: M35385
exact_source: HP:0001664
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001664
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. [https://orcid.org/0000-0002-0736-9199]


description_brief: Right ventricular hypertrophy
systematic_name: M35386
exact_source: HP:0001667
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001667
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Transposition of the great arteries
systematic_name: M35387
exact_source: HP:0001669
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001669
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. [eMedicine:900574, https://orcid.org/0000-0002-0736-9199, PMID:10798431]


description_brief: Asymmetric septal hypertrophy
systematic_name: M35388
exact_source: HP:0001670
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001670
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. [https://orcid.org/0000-0002-0736-9199, PMID:17916581]


description_brief: Complete atrioventricular canal defect
systematic_name: M35390
exact_source: HP:0001674
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001674
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:16722604]


description_brief: Coronary artery atherosclerosis
systematic_name: M35391
exact_source: HP:0001677
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001677
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, which increases the risk of myocardial ischemia. [https://orcid.org/0000-0002-0736-9199, PMID:31420554]


description_brief: Coarctation of aorta
systematic_name: M35393
exact_source: HP:0001680
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001680
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. [https://orcid.org/0000-0002-0736-9199, PMID:23909637]


description_brief: Angina pectoris
systematic_name: M35394
exact_source: HP:0001681
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001681
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Subvalvular aortic stenosis
systematic_name: M35395
exact_source: HP:0001682
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001682
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. [https://orcid.org/0000-0002-0736-9199]


description_brief: Secundum atrial septal defect
systematic_name: M35396
exact_source: HP:0001684
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001684
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]


description_brief: Myocardial fibrosis
systematic_name: M35397
exact_source: HP:0001685
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001685
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. [PMID:28157267]


description_brief: Sinus bradycardia
systematic_name: M35398
exact_source: HP:0001688
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001688
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cardiac shunt
systematic_name: M41242
exact_source: HP:0001693
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001693
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal pericardium morphology
systematic_name: M35401
exact_source: HP:0001697
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001697
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pericarditis
systematic_name: M43263
exact_source: HP:0001701
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001701
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inflammation of the sac-like covering around the heart (pericardium). [https://orcid.org/0000-0002-0736-9199]


description_brief: Tricuspid valve prolapse
systematic_name: M35405
exact_source: HP:0001704
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001704
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Endocardial fibroelastosis
systematic_name: M35406
exact_source: HP:0001706
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001706
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction [PMID:23109776]


description_brief: Third degree atrioventricular block
systematic_name: M35409
exact_source: HP:0001709
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001709
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. [PMID:21841933]


description_brief: Abnormal left ventricle morphology
systematic_name: M35410
exact_source: HP:0001711
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001711
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural abnormality of the left ventricle of the heart. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ventricular hypertrophy
systematic_name: M35413
exact_source: HP:0001714
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001714
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. [https://orcid.org/0000-0002-0736-9199]


description_brief: Wolff-Parkinson-White syndrome
systematic_name: M48694
exact_source: HP:0001716
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001716
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. [https://orcid.org/0000-0002-0736-9199]


description_brief: High-output congestive heart failure
systematic_name: M41243
exact_source: HP:0001722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. [https://orcid.org/0000-0002-0736-9199]


description_brief: Restrictive cardiomyopathy
systematic_name: M35415
exact_source: HP:0001723
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001723
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. [https://orcid.org/0000-0002-0736-9199, PMID:17916581]


description_brief: Thromboembolic stroke
systematic_name: M47050
exact_source: HP:0001727
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001727
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cerebrovascular accident (stroke) that occurs because of thromboembolism. [https://orcid.org/0000-0002-0736-9199]


description_brief: Annular pancreas
systematic_name: M35419
exact_source: HP:0001734
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001734
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pancreatic cysts
systematic_name: M35421
exact_source: HP:0001737
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001737
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cyst of the pancreas that possess a lining of mucous epithelium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Phimosis
systematic_name: M35423
exact_source: HP:0001741
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001741
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The male foreskin cannot be fully retracted from the head of the penis. [https://orcid.org/0009-0006-4530-3154]


description_brief: Nasal congestion
systematic_name: M35424
exact_source: HP:0001742
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001742
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced ability to pass air through the nasal cavity often leading to mouth breathing. [https://orcid.org/0000-0002-0736-9199]


description_brief: Accessory spleen
systematic_name: M35427
exact_source: HP:0001747
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001747
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Polysplenia
systematic_name: M35428
exact_source: HP:0001748
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001748
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Polysplenia is a congenital disease manifested by multiple small accessory spleens. [https://orcid.org/0000-0002-0736-9199]


description_brief: Single ventricle
systematic_name: M35429
exact_source: HP:0001750
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001750
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. [MP:0010432]


description_brief: Abnormal vestibular function
systematic_name: M35430
exact_source: HP:0001751
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001751
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the functioning of the vestibular apparatus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vestibular hypofunction
systematic_name: M35431
exact_source: HP:0001756
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001756
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance [https://orcid.org/0000-0002-0736-9199, PMID:32767115]


description_brief: High-frequency sensorineural hearing impairment
systematic_name: M41244
exact_source: HP:0001757
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001757
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of sensorineural hearing impairment that affects primarily the higher frequencies. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pes cavus
systematic_name: M35433
exact_source: HP:0001761
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001761
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Talipes equinovarus
systematic_name: M35434
exact_source: HP:0001762
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001762
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. [https://orcid.org/0000-0002-0736-9199, PMID:32491773]


description_brief: Pes planus
systematic_name: M35435
exact_source: HP:0001763
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001763
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Hammertoe
systematic_name: M35436
exact_source: HP:0001765
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001765
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. [PMID:19125433]


description_brief: Broad foot
systematic_name: M35437
exact_source: HP:0001769
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001769
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. [PMID:19125433]


description_brief: Toe syndactyly
systematic_name: M35438
exact_source: HP:0001770
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001770
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as \Symphalangism\. [https://orcid.org/0000-0002-0736-9199]


description_brief: Talipes equinovalgus
systematic_name: M35440
exact_source: HP:0001772
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001772
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deformity of foot and ankle in which the foot is bent down and outwards. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short foot
systematic_name: M35441
exact_source: HP:0001773
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001773
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Narrow foot
systematic_name: M43265
exact_source: HP:0001786
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001786
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. [PMID:19125433]


description_brief: Premature rupture of membranes
systematic_name: M35446
exact_source: HP:0001788
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001788
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hydrops fetalis
systematic_name: M35447
exact_source: HP:0001789
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001789
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. [https://orcid.org/0000-0002-0736-9199]


description_brief: Nonimmune hydrops fetalis
systematic_name: M35448
exact_source: HP:0001790
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001790
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . [https://orcid.org/0000-0002-0736-9199]


description_brief: Fetal ascites
systematic_name: M45401
exact_source: HP:0001791
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001791
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Accumulation of fluid in the peritoneal cavity during the fetal period. [https://orcid.org/0000-0002-0736-9199]


description_brief: Small nail
systematic_name: M35449
exact_source: HP:0001792
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001792
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A nail that is diminished in length and width, i.e., underdeveloped nail. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Hyperconvex nail
systematic_name: M35450
exact_source: HP:0001795
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001795
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Nail pits
systematic_name: M35455
exact_source: HP:0001803
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001803
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. [PMID:19125433]


description_brief: Split nail
systematic_name: M35461
exact_source: HP:0001809
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001809
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. [PMID:19125433]


description_brief: Dystrophic toenail
systematic_name: M35462
exact_source: HP:0001810
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001810
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperconvex fingernails
systematic_name: M35463
exact_source: HP:0001812
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001812
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Paronychia
systematic_name: M35467
exact_source: HP:0001818
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001818
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). [https://orcid.org/0000-0002-0736-9199]


description_brief: Postaxial foot polydactyly
systematic_name: M35471
exact_source: HP:0001830
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001830
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. [https://orcid.org/0000-0002-0736-9199]


description_brief: Short toe
systematic_name: M46066
exact_source: HP:0001831
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001831
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A toe that appears disproportionately short compared to the foot. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal metatarsal morphology
systematic_name: M35473
exact_source: HP:0001832
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001832
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). [https://orcid.org/0000-0002-0736-9199]


description_brief: Camptodactyly of toe
systematic_name: M35475
exact_source: HP:0001836
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001836
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Broad toe
systematic_name: M35476
exact_source: HP:0001837
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001837
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. [PMID:19125433]


description_brief: Split foot
systematic_name: M35477
exact_source: HP:0001839
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001839
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. [https://orcid.org/0009-0006-4530-3154]


description_brief: Metatarsus adductus
systematic_name: M35478
exact_source: HP:0001840
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001840
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Abnormal hallux morphology
systematic_name: M35481
exact_source: HP:0001844
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001844
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term applies for all abnormalities of the big toe, also called hallux. [https://orcid.org/0000-0002-0736-9199]


description_brief: Overlapping toe
systematic_name: M35482
exact_source: HP:0001845
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001845
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Foot oligodactyly
systematic_name: M35484
exact_source: HP:0001849
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001849
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 toes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the tarsal bones
systematic_name: M35485
exact_source: HP:0001850
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001850
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sandal gap
systematic_name: M35486
exact_source: HP:0001852
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001852
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A widely spaced gap between the first toe (the great toe) and the second toe. [https://orcid.org/0000-0002-0736-9199, PMID:19125433]


description_brief: Toe clinodactyly
systematic_name: M35489
exact_source: HP:0001863
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001863
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). [https://orcid.org/0000-0002-0736-9199]


description_brief: Clinodactyly of the 5th toe
systematic_name: M35490
exact_source: HP:0001864
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001864
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). [https://orcid.org/0000-0002-0736-9199]


description_brief: Deep plantar creases
systematic_name: M35491
exact_source: HP:0001869
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001869
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pancytopenia
systematic_name: M35495
exact_source: HP:0001876
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001876
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal erythrocyte morphology
systematic_name: M35496
exact_source: HP:0001877
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001877
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural abnormality of erythrocytes (red-blood cells). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal eosinophil morphology
systematic_name: M35498
exact_source: HP:0001879
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001879
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal count or structure of eosinophils. [https://orcid.org/0000-0002-0736-9199, PMID:23154224]


description_brief: Talipes calcaneovalgus
systematic_name: M35500
exact_source: HP:0001884
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001884
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \up and out\ appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Megaloblastic anemia
systematic_name: M35501
exact_source: HP:0001889
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001889
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal bleeding
systematic_name: M35504
exact_source: HP:0001892
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001892
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. [https://orcid.org/0000-0002-0736-9199]


description_brief: Normocytic anemia
systematic_name: M35508
exact_source: HP:0001897
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001897
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of anemia in which the volume of the red blood cells is normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased red blood cell mass
systematic_name: M47056
exact_source: HP:0001898
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001898
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an increased mass of red blood cells in the circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased hematocrit
systematic_name: M48695
exact_source: HP:0001899
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001899
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Polycythemia
systematic_name: M35510
exact_source: HP:0001901
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001901
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [https://orcid.org/0000-0002-0736-9199]


description_brief: Giant platelets
systematic_name: M35511
exact_source: HP:0001902
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001902
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). [https://orcid.org/0000-0002-0736-9199]


description_brief: Neutropenia in presence of anti-neutropil antibodies
systematic_name: M35512
exact_source: HP:0001904
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001904
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of neutropenia that is observed in the presence of granulocyte-specific antibodies. [https://orcid.org/0000-0002-0736-9199, PMID:25642312]


description_brief: Thromboembolism
systematic_name: M35514
exact_source: HP:0001907
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001907
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypoplastic anemia
systematic_name: M35515
exact_source: HP:0001908
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001908
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Leukemia
systematic_name: M35516
exact_source: HP:0001909
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001909
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. [https://orcid.org/0000-0002-0736-9199, NCIT:C3161]


description_brief: Abnormal basophil morphology
systematic_name: M43267
exact_source: HP:0001912
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001912
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural abnormality or abnormal count of basophils. [https://orcid.org/0000-0002-0736-9199, PMID:24075190]


description_brief: Aplastic anemia
systematic_name: M35518
exact_source: HP:0001915
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001915
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Aplastic anemia is defined as pancytopenia with a hypocellular marrow. [https://orcid.org/0000-0002-0736-9199, PMID:21239768]


description_brief: Renal amyloidosis
systematic_name: M41247
exact_source: HP:0001917
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001917
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). [https://orcid.org/0000-0002-0736-9199, PMID:25852856]


description_brief: Acute kidney injury
systematic_name: M35519
exact_source: HP:0001919
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001919
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). [https://orcid.org/0000-0002-0736-9199]


description_brief: Vacuolated lymphocytes
systematic_name: M35521
exact_source: HP:0001922
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001922
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. [https://orcid.org/0000-0002-0736-9199, PMID:20633042]


description_brief: Reticulocytosis
systematic_name: M35522
exact_source: HP:0001923
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001923
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sideroblastic anemia
systematic_name: M35523
exact_source: HP:0001924
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001924
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). [https://orcid.org/0000-0002-0736-9199]


description_brief: Acanthocytosis
systematic_name: M35524
exact_source: HP:0001927
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001927
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of coagulation
systematic_name: M35525
exact_source: HP:0001928
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001928
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced factor XI activity
systematic_name: M35526
exact_source: HP:0001929
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001929
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypochromic anemia
systematic_name: M35528
exact_source: HP:0001931
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001931
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. [https://orcid.org/0000-0002-0736-9199]


description_brief: Subcutaneous hemorrhage
systematic_name: M35529
exact_source: HP:0001933
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001933
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). [https://orcid.org/0000-0002-0736-9199]


description_brief: Microcytic anemia
systematic_name: M35531
exact_source: HP:0001935
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001935
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of anemia in which the volume of the red blood cells is reduced. [https://orcid.org/0000-0002-0736-9199]


description_brief: Metabolic acidosis
systematic_name: M35533
exact_source: HP:0001942
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001942
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. [https://orcid.org/0000-0002-0736-9199, PMID:17936961, PMID:31418093]


description_brief: Fever
systematic_name: M35535
exact_source: HP:0001945
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001945
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Body temperature elevated above the normal range. [https://orcid.org/0009-0006-4530-3154, PMID:9759682]


description_brief: Ketosis
systematic_name: M35536
exact_source: HP:0001946
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001946
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of elevated levels of ketone bodies in the body. [https://orcid.org/0000-0002-0736-9199, PMID:28278308]


description_brief: Renal tubular acidosis
systematic_name: M35537
exact_source: HP:0001947
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001947
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Alkalosis
systematic_name: M35538
exact_source: HP:0001948
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001948
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Depletion of acid or accumulation base in the body fluids. [https://orcid.org/0000-0002-0736-9199, PMID:24381489]


description_brief: Respiratory alkalosis
systematic_name: M35540
exact_source: HP:0001950
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001950
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Alkalosis due to excess loss of carbon dioxide from the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Glucose intolerance
systematic_name: M48698
exact_source: HP:0001952
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001952
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). [PMID:29763085]


description_brief: Diabetic ketoacidosis
systematic_name: M41248
exact_source: HP:0001953
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001953
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of diabetic metabolic abnormality with an accumulation of ketone bodies. [https://orcid.org/0000-0002-0736-9199]


description_brief: Unexplained fevers
systematic_name: M35543
exact_source: HP:0001955
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001955
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Episodes of fever for which no infectious cause can be identified. [https://orcid.org/0000-0002-0736-9199]


description_brief: Truncal obesity
systematic_name: M35544
exact_source: HP:0001956
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001956
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Obesity located preferentially in the trunk of the body as opposed to the extremities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Palpitations
systematic_name: M35548
exact_source: HP:0001962
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001962
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal speech discrimination
systematic_name: M48699
exact_source: HP:0001963
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001963
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal scalp morphology
systematic_name: M35550
exact_source: HP:0001965
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001965
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal glomerular mesangium morphology
systematic_name: M35551
exact_source: HP:0001966
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001966
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. [https://orcid.org/0000-0002-0736-9199, PMID:19470685, PMID:20828589]


description_brief: Diffuse mesangial sclerosis
systematic_name: M48700
exact_source: HP:0001967
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001967
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tubulointerstitial nephritis
systematic_name: M35554
exact_source: HP:0001970
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001970
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypersplenism
systematic_name: M35555
exact_source: HP:0001971
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001971
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malfunctioning of the spleen in which it prematurely destroys red blood cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Macrocytic anemia
systematic_name: M35556
exact_source: HP:0001972
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001972
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). [https://orcid.org/0000-0002-0736-9199, PMID:19202968]


description_brief: Autoimmune thrombocytopenia
systematic_name: M35557
exact_source: HP:0001973
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001973
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. [https://orcid.org/0000-0002-7744-1790]


description_brief: Leukocytosis
systematic_name: M35558
exact_source: HP:0001974
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001974
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in the number of leukocytes in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal thrombosis
systematic_name: M35560
exact_source: HP:0001977
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001977
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). [https://orcid.org/0000-0002-0736-9199]


description_brief: Extramedullary hematopoiesis
systematic_name: M35561
exact_source: HP:0001978
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001978
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. [https://orcid.org/0000-0002-0736-9199, PMID:27377325, PMID:28101170]


description_brief: Schistocytosis
systematic_name: M35563
exact_source: HP:0001981
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001981
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sea-blue histiocytosis
systematic_name: M35564
exact_source: HP:0001982
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001982
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. [https://orcid.org/0000-0002-0736-9199, PMID:8797061]


description_brief: Hypoketotic hypoglycemia
systematic_name: M35565
exact_source: HP:0001985
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001985
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fetal akinesia sequence
systematic_name: M35568
exact_source: HP:0001989
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001989
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). [https://orcid.org/0000-0002-0736-9199]


description_brief: Renal Fanconi syndrome
systematic_name: M41250
exact_source: HP:0001994
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001994
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gout
systematic_name: M35573
exact_source: HP:0001997
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001997
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. [https://orcid.org/0009-0006-4530-3154]


description_brief: Abnormal facial shape
systematic_name: M35575
exact_source: HP:0001999
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0001999
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal morphology (form) of the face or its components. [https://orcid.org/0000-0002-9602-2321]


description_brief: Deep philtrum
systematic_name: M35577
exact_source: HP:0002002
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002002
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. [PMID:19152422]


description_brief: Tessier cleft
systematic_name: M35579
exact_source: HP:0002006
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002006
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital malformation with a cleft (gap or opening) in the face. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vomiting
systematic_name: M35582
exact_source: HP:0002013
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002013
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. [https://orcid.org/0000-0002-0736-9199]


description_brief: Diarrhea
systematic_name: M35583
exact_source: HP:0002014
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002014
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. [https://orcid.org/0000-0002-0736-9199]


description_brief: Nausea and vomiting
systematic_name: M35585
exact_source: HP:0002017
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002017
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. [PMID:26770271]


description_brief: Nausea
systematic_name: M35586
exact_source: HP:0002018
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002018
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A sensation of unease in the stomach together with an urge to vomit. [https://orcid.org/0000-0002-0736-9199, PMID:26770271]


description_brief: Gastroesophageal reflux
systematic_name: M35588
exact_source: HP:0002020
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002020
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. [https://orcid.org/0000-0002-0736-9199]


description_brief: Anal atresia
systematic_name: M35589
exact_source: HP:0002023
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002023
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Malabsorption
systematic_name: M35590
exact_source: HP:0002024
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002024
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impaired ability to absorb one or more nutrients from the intestine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abdominal pain
systematic_name: M35592
exact_source: HP:0002027
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002027
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. [https://orcid.org/0000-0002-0736-9199]


description_brief: Chronic diarrhea
systematic_name: M35593
exact_source: HP:0002028
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002028
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. [https://orcid.org/0000-0002-0736-9199]


description_brief: Esophageal atresia
systematic_name: M35595
exact_source: HP:0002032
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002032
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. [https://orcid.org/0000-0002-0736-9199]


description_brief: Poor suck
systematic_name: M35596
exact_source: HP:0002033
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002033
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal rectum morphology
systematic_name: M35597
exact_source: HP:0002034
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002034
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hiatus hernia
systematic_name: M35599
exact_source: HP:0002036
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002036
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Esophageal varix
systematic_name: M35603
exact_source: HP:0002040
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002040
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Extreme dilation of the submucusoal veins in the lower portion of the esophagus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Esophageal stricture
systematic_name: M35605
exact_source: HP:0002043
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002043
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. [https://orcid.org/0000-0002-0736-9199]


description_brief: Zollinger-Ellison syndrome
systematic_name: M35606
exact_source: HP:0002044
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002044
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. [https://orcid.org/0000-0002-0736-9199]


description_brief: Heat intolerance
systematic_name: M35608
exact_source: HP:0002046
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002046
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The inability to maintain a comfortable body temperature in warm or hot weather. [https://orcid.org/0000-0002-0736-9199]


description_brief: Malignant hyperthermia
systematic_name: M35609
exact_source: HP:0002047
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002047
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. [https://orcid.org/0000-0002-0736-9199]


description_brief: Proximal renal tubular acidosis
systematic_name: M35610
exact_source: HP:0002049
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002049
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 the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Myopathic facies
systematic_name: M35612
exact_source: HP:0002058
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002058
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lower limb spasticity
systematic_name: M35613
exact_source: HP:0002061
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002061
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal pyramidal tract morphology
systematic_name: M35614
exact_source: HP:0002062
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002062
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. [https://orcid.org/0000-0002-0736-9199]


description_brief: Rigidity
systematic_name: M35615
exact_source: HP:0002063
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002063
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Spastic gait
systematic_name: M35616
exact_source: HP:0002064
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002064
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. [PMID:25649546]


description_brief: Gait ataxia
systematic_name: M35617
exact_source: HP:0002066
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002066
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199]


description_brief: Bradykinesia
systematic_name: M35618
exact_source: HP:0002067
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002067
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). [https://orcid.org/0000-0002-0736-9199]


description_brief: Bilateral tonic-clonic seizure
systematic_name: M35620
exact_source: HP:0002069
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002069
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. [https://orcid.org/0000-0002-0736-9199, PMID:28276060]


description_brief: Abnormality of extrapyramidal motor function
systematic_name: M35622
exact_source: HP:0002071
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002071
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). [https://orcid.org/0000-0002-0736-9199]


description_brief: Chorea
systematic_name: M35623
exact_source: HP:0002072
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002072
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. [https://orcid.org/0000-0002-0736-9199, PMID:20589866]


description_brief: Increased neuronal autofluorescent lipopigment
systematic_name: M46068
exact_source: HP:0002074
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002074
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [https://orcid.org/0000-0002-0736-9199, PMID:11406682]


description_brief: Dysdiadochokinesis
systematic_name: M35625
exact_source: HP:0002075
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002075
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. [HPO_CONTRIBUTOR:UKB_tklockgether, HPO_CONTRIBUTOR:zaferyueksel, https://orcid.org/0000-0002-0736-9199]


description_brief: Migraine
systematic_name: M35626
exact_source: HP:0002076
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002076
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. [https://orcid.org/0000-0002-0736-9199, PMID:15304572]


description_brief: Migraine with aura
systematic_name: M35627
exact_source: HP:0002077
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002077
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. [https://orcid.org/0000-0002-0736-9199, PMID:15304572]


description_brief: Truncal ataxia
systematic_name: M35628
exact_source: HP:0002078
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002078
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. [HPO_CONTRIBUTOR:UKT_rschuele, https://orcid.org/0000-0002-0736-9199]


description_brief: Migraine without aura
systematic_name: M41251
exact_source: HP:0002083
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002083
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. [https://orcid.org/0000-0002-0736-9199, PMID:15304572]


description_brief: Encephalocele
systematic_name: M48701
exact_source: HP:0002084
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002084
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. [https://orcid.org/0000-0002-0736-9199]


description_brief: Occipital encephalocele
systematic_name: M35631
exact_source: HP:0002085
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002085
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481]


description_brief: Restrictive ventilatory defect
systematic_name: M35634
exact_source: HP:0002091
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002091
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. [https://orcid.org/0000-0003-4546-6667, PMID:28194273]


description_brief: Pulmonary arterial hypertension
systematic_name: M47058
exact_source: HP:0002092
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002092
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dyspnea
systematic_name: M35637
exact_source: HP:0002094
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002094
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. [https://orcid.org/0000-0002-0736-9199, PMID:16914301]


description_brief: Respiratory distress
systematic_name: M35639
exact_source: HP:0002098
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002098
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. []


description_brief: Asthma
systematic_name: M35640
exact_source: HP:0002099
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002099
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent aspiration pneumonia
systematic_name: M35641
exact_source: HP:0002100
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002100
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal pleura morphology
systematic_name: M35644
exact_source: HP:0002103
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002103
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. [https://orcid.org/0000-0002-0736-9199]


description_brief: Apnea
systematic_name: M35645
exact_source: HP:0002104
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002104
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hemoptysis
systematic_name: M35646
exact_source: HP:0002105
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002105
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pneumothorax
systematic_name: M35647
exact_source: HP:0002107
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002107
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. [https://orcid.org/0000-0002-0736-9199]


description_brief: Spontaneous pneumothorax
systematic_name: M35648
exact_source: HP:0002108
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002108
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pneumothorax occurring without traumatic injury to the chest or lung. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bronchiectasis
systematic_name: M43269
exact_source: HP:0002110
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002110
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. [https://orcid.org/0000-0002-0736-9199]


description_brief: Generalized myoclonic seizure
systematic_name: M43270
exact_source: HP:0002123
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002123
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]


description_brief: Polymicrogyria
systematic_name: M35655
exact_source: HP:0002126
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002126
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:24888723]


description_brief: Episodic ataxia
systematic_name: M35657
exact_source: HP:0002131
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002131
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. [https://orcid.org/0000-0002-0736-9199]


description_brief: Porencephalic cyst
systematic_name: M35658
exact_source: HP:0002132
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002132
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. [https://orcid.org/0000-0002-0736-9199, PMID:9279052]


description_brief: Status epilepticus
systematic_name: M35659
exact_source: HP:0002133
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002133
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-1735-8178, PMID:26336950, PMID:28276060]


description_brief: Basal ganglia calcification
systematic_name: M35661
exact_source: HP:0002135
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002135
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of calcium deposition affecting one or more structures of the basal ganglia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Broad-based gait
systematic_name: M35662
exact_source: HP:0002136
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002136
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Subarachnoid hemorrhage
systematic_name: M35663
exact_source: HP:0002138
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002138
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hemorrhage occurring between the arachnoid mater and the pia mater. [https://orcid.org/0009-0006-4530-3154]


description_brief: Arrhinencephaly
systematic_name: M35664
exact_source: HP:0002139
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002139
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell. []


description_brief: Frontotemporal dementia
systematic_name: M35668
exact_source: HP:0002145
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002145
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. [https://orcid.org/0000-0002-0736-9199, PMID:24966676]


description_brief: Increased circulating lactate concentration
systematic_name: M35671
exact_source: HP:0002151
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002151
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). [https://orcid.org/0000-0002-0736-9199, PMID:24079682]


description_brief: Hyperkalemia
systematic_name: M35672
exact_source: HP:0002153
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002153
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased potassium concentration in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypertriglyceridemia
systematic_name: M35673
exact_source: HP:0002155
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002155
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal increase in the level of triglycerides in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Heparan sulfate excretion in urine
systematic_name: M35675
exact_source: HP:0002159
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002159
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of heparan sulfates in the urine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Impaired vibration sensation in the lower limbs
systematic_name: M35679
exact_source: HP:0002166
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002166
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 legs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Scanning speech
systematic_name: M35681
exact_source: HP:0002168
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002168
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. [PMID:16247074]


description_brief: Clonus
systematic_name: M35682
exact_source: HP:0002169
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002169
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gliosis
systematic_name: M35684
exact_source: HP:0002171
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002171
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Gliosis is the focal proliferation of glial cells in the central nervous system. [https://orcid.org/0009-0006-4530-3154]


description_brief: Postural instability
systematic_name: M35685
exact_source: HP:0002172
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002172
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. [PMID:25613349]


description_brief: Postural tremor
systematic_name: M35687
exact_source: HP:0002174
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002174
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 a limb in a fixed position. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neurofibrillary tangles
systematic_name: M35693
exact_source: HP:0002185
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002185
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. [https://orcid.org/0009-0006-4530-3154]


description_brief: Apraxia
systematic_name: M35694
exact_source: HP:0002186
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002186
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. []


description_brief: Intellectual disability, profound
systematic_name: M35695
exact_source: HP:0002187
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002187
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [https://orcid.org/0000-0002-0736-9199]


description_brief: Choroid plexus cyst
systematic_name: M35697
exact_source: HP:0002190
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002190
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cyst occurring within the choroid plexus within a cerebral ventricle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Delayed gross motor development
systematic_name: M35700
exact_source: HP:0002194
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002194
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. [https://orcid.org/0000-0002-0736-9199]


description_brief: Generalized-onset seizure
systematic_name: M35703
exact_source: HP:0002197
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002197
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. [https://orcid.org/0000-0002-0736-9199, PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064, PMID:6790275]


description_brief: Pseudobulbar signs
systematic_name: M35705
exact_source: HP:0002200
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002200
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. [https://orcid.org/0009-0006-4530-3154]


description_brief: Pleural effusion
systematic_name: M35706
exact_source: HP:0002202
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002202
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an excessive amount of fluid in the pleural cavity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary embolism
systematic_name: M35708
exact_source: HP:0002204
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002204
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. []


description_brief: Recurrent respiratory infections
systematic_name: M41255
exact_source: HP:0002205
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002205
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pulmonary fibrosis
systematic_name: M35709
exact_source: HP:0002206
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002206
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Replacement of normal lung tissues by fibroblasts and collagen. [HPO_CONTRIBUTOR:DDD_tkuijpers, https://orcid.org/0000-0002-0736-9199]


description_brief: White forelock
systematic_name: M35712
exact_source: HP:0002211
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002211
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A triangular depigmented region of white hairs located in the anterior midline of the scalp. [https://orcid.org/0000-0002-0736-9199]


description_brief: Woolly hair
systematic_name: M35719
exact_source: HP:0002224
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002224
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. [PMID:20464096]


description_brief: Generalized hirsutism
systematic_name: M35721
exact_source: HP:0002230
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002230
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally increased hair growth over much of the entire body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Patchy alopecia
systematic_name: M35723
exact_source: HP:0002232
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002232
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. []


description_brief: Pili canaliculi
systematic_name: M35724
exact_source: HP:0002235
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002235
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy. [https://orcid.org/0000-0002-0736-9199, PMID:8274794]


description_brief: Abnormal intestine morphology
systematic_name: M35728
exact_source: HP:0002242
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002242
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Protein-losing enteropathy
systematic_name: M35729
exact_source: HP:0002243
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002243
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. [https://orcid.org/0000-0002-0736-9199]


description_brief: Meckel diverticulum
systematic_name: M46072
exact_source: HP:0002245
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002245
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Meckel's diverticulum is a congenital diverticulum located in the distal ileum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal duodenum morphology
systematic_name: M35731
exact_source: HP:0002246
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002246
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the duodenum, i.e., the first section of the small intestine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Duodenal atresia
systematic_name: M35732
exact_source: HP:0002247
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002247
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Melena
systematic_name: M35734
exact_source: HP:0002249
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002249
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aganglionic megacolon
systematic_name: M48702
exact_source: HP:0002251
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002251
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. [https://orcid.org/0000-0002-0736-9199, PMID:17965226]


description_brief: Focal clonic seizure
systematic_name: M35742
exact_source: HP:0002266
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002266
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]


description_brief: Exaggerated startle response
systematic_name: M35743
exact_source: HP:0002267
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002267
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. [https://orcid.org/0000-0002-0736-9199]


description_brief: Paroxysmal dystonia
systematic_name: M35744
exact_source: HP:0002268
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002268
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of neuronal migration
systematic_name: M35745
exact_source: HP:0002269
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002269
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Horner syndrome
systematic_name: M48703
exact_source: HP:0002277
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002277
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Enlarged cisterna magna
systematic_name: M35748
exact_source: HP:0002280
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002280
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gray matter heterotopia
systematic_name: M35749
exact_source: HP:0002282
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002282
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438]


description_brief: Global brain atrophy
systematic_name: M35750
exact_source: HP:0002283
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002283
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. [https://orcid.org/0009-0006-4530-3154]


description_brief: Fair hair
systematic_name: M35751
exact_source: HP:0002286
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002286
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A lesser degree of hair pigmentation than would otherwise be expected. [https://orcid.org/0000-0003-1773-4011]


description_brief: Brittle hair
systematic_name: M35756
exact_source: HP:0002299
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002299
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fragile, easily breakable hair, i.e., with reduced tensile strength. [https://orcid.org/0000-0003-1773-4011]


description_brief: Hemiplegia
systematic_name: M35758
exact_source: HP:0002301
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002301
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. [https://orcid.org/0000-0002-0736-9199]


description_brief: Akinesia
systematic_name: M35759
exact_source: HP:0002304
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002304
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. [https://orcid.org/0000-0002-0736-9199]


description_brief: Athetosis
systematic_name: M35760
exact_source: HP:0002305
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002305
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. [https://orcid.org/0000-0002-0736-9199, PMID:20589866]


description_brief: Chiari malformation
systematic_name: M35761
exact_source: HP:0002308
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002308
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. [https://orcid.org/0000-0002-0736-9199, PMID:28613730]


description_brief: Clumsiness
systematic_name: M35764
exact_source: HP:0002312
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002312
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. [https://orcid.org/0000-0002-0736-9199]


description_brief: Degeneration of the lateral corticospinal tracts
systematic_name: M35766
exact_source: HP:0002314
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002314
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Deterioration of the tissues of the lateral corticospinal tracts. [https://orcid.org/0000-0002-0736-9199]


description_brief: Headache
systematic_name: M35767
exact_source: HP:0002315
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002315
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. [https://orcid.org/0000-0002-0736-9199, PMID:15304572]


description_brief: Vertigo
systematic_name: M35770
exact_source: HP:0002321
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002321
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal sensation of spinning while the body is actually stationary. [https://orcid.org/0000-0002-0736-9199]


description_brief: Resting tremor
systematic_name: M35771
exact_source: HP:0002322
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002322
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. [https://orcid.org/0000-0002-0736-9199, PMID:22675666]


description_brief: Anencephaly
systematic_name: M35772
exact_source: HP:0002323
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002323
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. [PMID:31424828, PMID:32706613]


description_brief: Hydranencephaly
systematic_name: M35773
exact_source: HP:0002324
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002324
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent paroxysmal headache
systematic_name: M35776
exact_source: HP:0002331
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002331
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. [https://orcid.org/0000-0002-0736-9199]


description_brief: Motor deterioration
systematic_name: M35777
exact_source: HP:0002333
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002333
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of previously present motor (i.e., movement) abilities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cervical cord compression
systematic_name: M35782
exact_source: HP:0002341
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002341
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intellectual disability, moderate
systematic_name: M35783
exact_source: HP:0002342
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002342
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. [https://orcid.org/0000-0002-0736-9199]


description_brief: Normal pressure hydrocephalus
systematic_name: M47060
exact_source: HP:0002343
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002343
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199]


description_brief: Action tremor
systematic_name: M35785
exact_source: HP:0002345
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002345
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. [https://orcid.org/0000-0002-0736-9199]


description_brief: Head tremor
systematic_name: M35786
exact_source: HP:0002346
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002346
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An unintentional, oscillating to-and-fro muscle movement affecting head movement. [https://orcid.org/0000-0002-0736-9199]


description_brief: Focal aware seizure
systematic_name: M35787
exact_source: HP:0002349
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002349
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178, PMID:28276060, PMID:28276062, PMID:28276064]


description_brief: Leukoencephalopathy
systematic_name: M35789
exact_source: HP:0002352
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002352
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Memory impairment
systematic_name: M35790
exact_source: HP:0002354
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002354
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. [https://orcid.org/0000-0002-0736-9199]


description_brief: Writer's cramp
systematic_name: M35792
exact_source: HP:0002356
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002356
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. [https://orcid.org/0000-0002-0736-9199]


description_brief: Shuffling gait
systematic_name: M35797
exact_source: HP:0002362
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002362
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. []


description_brief: Normal interictal EEG
systematic_name: M41258
exact_source: HP:0002372
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002372
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. []


description_brief: Febrile seizure (within the age range of 3 months to 6 years)
systematic_name: M48704
exact_source: HP:0002373
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002373
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. [https://orcid.org/0000-0002-0736-9199, PMID:10353950, PMID:19125841, PMID:30078767, PMID:6779259]


description_brief: Hypokinesia
systematic_name: M35805
exact_source: HP:0002375
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002375
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. [https://orcid.org/0000-0002-0736-9199]


description_brief: Developmental regression
systematic_name: M35806
exact_source: HP:0002376
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002376
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Loss of developmental skills, as manifested by loss of developmental milestones. [https://orcid.org/0000-0002-6410-0882]


description_brief: Fasciculations
systematic_name: M35808
exact_source: HP:0002380
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002380
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aphasia
systematic_name: M35809
exact_source: HP:0002381
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002381
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. [PMID:27384070]


description_brief: Infectious encephalitis
systematic_name: M35810
exact_source: HP:0002383
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002383
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. [PMID:24365426]


description_brief: Focal impaired awareness seizure
systematic_name: M35811
exact_source: HP:0002384
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002384
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. [https://orcid.org/0000-0002-0736-9199, PMID:28276062, PMID:28276064, PMID:9738682]


description_brief: Cavum septum pellucidum
systematic_name: M35813
exact_source: HP:0002389
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002389
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cogwheel rigidity
systematic_name: M35816
exact_source: HP:0002396
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002396
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). [https://orcid.org/0000-0002-0736-9199]


description_brief: Stroke-like episode
systematic_name: M35817
exact_source: HP:0002401
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002401
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. [PMID:22715346, PMID:23907585]


description_brief: Positive Romberg sign
systematic_name: M35818
exact_source: HP:0002403
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002403
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cerebral arteriovenous malformation
systematic_name: M35820
exact_source: HP:0002408
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002408
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. []


description_brief: Aqueductal stenosis
systematic_name: M35821
exact_source: HP:0002410
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002410
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Myokymia
systematic_name: M35822
exact_source: HP:0002411
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002411
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. [PMID:21501741]


description_brief: Leukodystrophy
systematic_name: M35823
exact_source: HP:0002415
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002415
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. [https://orcid.org/0000-0002-0736-9199, PMID:30620693]


description_brief: Subependymal cysts
systematic_name: M35824
exact_source: HP:0002416
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002416
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. [https://orcid.org/0000-0002-0736-9199, PMID:12423490]


description_brief: Abnormal midbrain morphology
systematic_name: M35825
exact_source: HP:0002418
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002418
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. [https://orcid.org/0000-0002-0736-9199]


description_brief: Molar tooth sign on MRI
systematic_name: M35826
exact_source: HP:0002419
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002419
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. [https://orcid.org/0000-0002-0736-9199, PMID:14657304]


description_brief: Poor head control
systematic_name: M35827
exact_source: HP:0002421
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002421
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Difficulty to maintain correct position of the head while standing or sitting. [https://orcid.org/0000-0002-0736-9199]


description_brief: Expressive aphasia
systematic_name: M35830
exact_source: HP:0002427
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002427
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. [https://orcid.org/0000-0002-0736-9199]


description_brief: Meningocele
systematic_name: M35831
exact_source: HP:0002435
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002435
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Protrusion of the meninges through a defect of the skull or vertebral column. [https://orcid.org/0009-0006-4530-3154, PMID:32965845]


description_brief: Occipital meningocele
systematic_name: M35832
exact_source: HP:0002436
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002436
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A herniation of meninges through a congenital bone defect in the skull in the occipital region. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dyscalculia
systematic_name: M35834
exact_source: HP:0002442
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002442
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A specific learning disability involving mathematics and arithmetic. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tetraplegia
systematic_name: M35836
exact_source: HP:0002445
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002445
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. [https://orcid.org/0000-0002-0736-9199]


description_brief: Astrocytosis
systematic_name: M35837
exact_source: HP:0002446
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002446
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Proliferation of astrocytes in the area of a lesion of the central nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Limb dystonia
systematic_name: M35839
exact_source: HP:0002451
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002451
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Eye of the tiger anomaly of globus pallidus
systematic_name: M46073
exact_source: HP:0002454
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002454
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus. [https://orcid.org/0000-0002-0736-9199, PMID:11110959, PMID:19881070, PMID:29371252]


description_brief: Distal muscle weakness
systematic_name: M35842
exact_source: HP:0002460
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002460
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced strength of the musculature of the distal extremities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Language impairment
systematic_name: M48705
exact_source: HP:0002463
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002463
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. []


description_brief: Spastic dysarthria
systematic_name: M35844
exact_source: HP:0002464
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002464
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. [https://orcid.org/0000-0002-0736-9199]


description_brief: Expressive language delay
systematic_name: M35848
exact_source: HP:0002474
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002474
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [https://orcid.org/0000-0002-0736-9199]


description_brief: Myelomeningocele
systematic_name: M35849
exact_source: HP:0002475
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002475
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. [https://orcid.org/0000-0002-0736-9199]


description_brief: Primitive reflex
systematic_name: M35850
exact_source: HP:0002476
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002476
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. [PMID:12700289]


description_brief: Hepatic encephalopathy
systematic_name: M35852
exact_source: HP:0002480
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002480
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Myotonia
systematic_name: M35854
exact_source: HP:0002486
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002486
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperkinetic movements
systematic_name: M35855
exact_source: HP:0002487
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002487
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Motor hyperactivity with excessive movement of muscles of the body as a whole. [https://orcid.org/0000-0002-0736-9199]


description_brief: Acute leukemia
systematic_name: M35856
exact_source: HP:0002488
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002488
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). [NCIT:C9300]


description_brief: Abnormal corticospinal tract morphology
systematic_name: M35858
exact_source: HP:0002492
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002492
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. [https://orcid.org/0000-0002-0736-9199]


description_brief: Upper motor neuron dysfunction
systematic_name: M35859
exact_source: HP:0002493
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002493
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal rapid eye movement sleep
systematic_name: M35860
exact_source: HP:0002494
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002494
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements. [PMID:31910377, PMID:32179430]


description_brief: Impaired vibratory sensation
systematic_name: M47062
exact_source: HP:0002495
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002495
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. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. [https://orcid.org/0000-0002-0736-9199]


description_brief: Semilobar holoprosencephaly
systematic_name: M41260
exact_source: HP:0002507
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002507
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. [HPO_CONTRIBUTOR:GC_HPE]


description_brief: Alzheimer disease
systematic_name: M35868
exact_source: HP:0002511
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002511
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [https://orcid.org/0000-0002-0736-9199]


description_brief: Waddling gait
systematic_name: M35871
exact_source: HP:0002515
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002515
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. [PMID:27770207]


description_brief: Abnormal periventricular white matter morphology
systematic_name: M35873
exact_source: HP:0002518
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002518
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. []


description_brief: Hypsarrhythmia
systematic_name: M35874
exact_source: HP:0002521
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002521
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). [https://orcid.org/0000-0002-0736-9199]


description_brief: Cataplexy
systematic_name: M35876
exact_source: HP:0002524
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002524
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. [https://orcid.org/0000-0002-0736-9199, PMID:21931493, PMID:22249574]


description_brief: Axial dystonia
systematic_name: M35879
exact_source: HP:0002530
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002530
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal cortical gyration
systematic_name: M43274
exact_source: HP:0002536
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002536
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal cerebral cortex morphology
systematic_name: M35881
exact_source: HP:0002538
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002538
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Any structural abnormality of the cerebral cortex. [https://orcid.org/0000-0002-0736-9199, PMID:31373394]


description_brief: Cortical dysplasia
systematic_name: M35882
exact_source: HP:0002539
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002539
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of developmental dysplasia of the cerebral cortex. [https://orcid.org/0000-0002-0736-9199]


description_brief: Olivopontocerebellar atrophy
systematic_name: M35884
exact_source: HP:0002542
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002542
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. [https://orcid.org/0000-0002-0736-9199]


description_brief: Retrocollis
systematic_name: M41261
exact_source: HP:0002544
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002544
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. [https://orcid.org/0000-0002-0736-9199, PMID:17917462]


description_brief: Parkinsonism with favorable response to dopaminergic medication
systematic_name: M35886
exact_source: HP:0002548
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002548
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. []


description_brief: Deficit in phonologic short-term memory
systematic_name: M46074
exact_source: HP:0002549
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002549
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory [PMID:19646677]


description_brief: Highly arched eyebrow
systematic_name: M35889
exact_source: HP:0002553
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002553
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. [PMID:19125427]


description_brief: Intestinal malrotation
systematic_name: M35894
exact_source: HP:0002566
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002566
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. [https://orcid.org/0000-0002-0736-9199, PMID:12438031]


description_brief: Steatorrhea
systematic_name: M47063
exact_source: HP:0002570
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002570
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hematochezia
systematic_name: M35897
exact_source: HP:0002573
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002573
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. [https://orcid.org/0000-0002-6410-0882]


description_brief: Tracheoesophageal fistula
systematic_name: M35899
exact_source: HP:0002575
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002575
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal connection (fistula) between the esophagus and the trachea. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intussusception
systematic_name: M35900
exact_source: HP:0002576
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002576
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gastroparesis
systematic_name: M35902
exact_source: HP:0002578
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002578
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Volvulus
systematic_name: M35904
exact_source: HP:0002580
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002580
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. [https://orcid.org/0000-0002-0736-9199]


description_brief: Atrophic gastritis
systematic_name: M35905
exact_source: HP:0002582
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002582
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. [https://orcid.org/0000-0002-0736-9199, PMID:21483628]


description_brief: Colitis
systematic_name: M35906
exact_source: HP:0002583
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002583
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. [https://orcid.org/0009-0006-4530-3154]


description_brief: Duodenal ulcer
systematic_name: M41264
exact_source: HP:0002588
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002588
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An erosion of the mucous membrane in a portion of the duodenum. [https://orcid.org/0000-0002-0736-9199]


description_brief: Polyphagia
systematic_name: M35911
exact_source: HP:0002591
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002591
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. [https://orcid.org/0000-0002-0736-9199]


description_brief: Gastric ulcer
systematic_name: M35912
exact_source: HP:0002592
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002592
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An ulcer, that is, an erosion of an area of the gastric mucous membrane. [https://orcid.org/0000-0002-0736-9199]


description_brief: Intestinal lymphangiectasia
systematic_name: M48706
exact_source: HP:0002593
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002593
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ileus
systematic_name: M35913
exact_source: HP:0002595
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002595
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Acute obstruction of the intestines preventing passage of the contents of the intestines. [https://orcid.org/0009-0006-4530-3154]


description_brief: Head titubation
systematic_name: M35914
exact_source: HP:0002599
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002599
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyporeflexia of lower limbs
systematic_name: M35915
exact_source: HP:0002600
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002600
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. [https://orcid.org/0000-0002-0736-9199]


description_brief: Celiac disease
systematic_name: M35917
exact_source: HP:0002608
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002608
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. [https://orcid.org/0000-0002-0736-9199, PMID:23681421]


description_brief: Congenital hepatic fibrosis
systematic_name: M35919
exact_source: HP:0002612
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002612
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of fibrosis of that part of the liver with congenital onset. [https://orcid.org/0000-0002-0736-9199]


description_brief: Biliary cirrhosis
systematic_name: M35920
exact_source: HP:0002613
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002613
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vascular dilatation
systematic_name: M35923
exact_source: HP:0002617
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002617
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. [https://orcid.org/0000-0002-0736-9199, PMID:30225143]


description_brief: Overriding aorta
systematic_name: M35925
exact_source: HP:0002623
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002623
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. [https://orcid.org/0000-0002-0736-9199]


description_brief: Deep venous thrombosis
systematic_name: M35927
exact_source: HP:0002625
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002625
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. [https://orcid.org/0000-0002-0736-9199]


description_brief: Right aortic arch with mirror image branching
systematic_name: M35928
exact_source: HP:0002627
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002627
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0009-0006-4530-3154]


description_brief: Gastrointestinal arteriovenous malformation
systematic_name: M48707
exact_source: HP:0002629
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002629
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. []


description_brief: Arteriosclerosis
systematic_name: M35931
exact_source: HP:0002634
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002634
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Budd-Chiari syndrome
systematic_name: M35933
exact_source: HP:0002639
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002639
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. [https://orcid.org/0000-0002-0736-9199, PMID:16265183]


description_brief: Abnormal pelvic girdle bone morphology
systematic_name: M35936
exact_source: HP:0002644
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002644
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. [https://orcid.org/0000-0002-0736-9199]


description_brief: Wormian bones
systematic_name: M35937
exact_source: HP:0002645
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002645
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Aortic dissection
systematic_name: M35938
exact_source: HP:0002647
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002647
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. [https://orcid.org/0000-0002-0736-9199]


description_brief: Skeletal dysplasia
systematic_name: M35940
exact_source: HP:0002652
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002652
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A general term describing features characterized by abnormal development of bones and connective tissues. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bone pain
systematic_name: M35941
exact_source: HP:0002653
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002653
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 bone. []


description_brief: Spondyloepiphyseal dysplasia
systematic_name: M35943
exact_source: HP:0002655
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002655
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). [https://orcid.org/0000-0002-0736-9199]


description_brief: Increased susceptibility to fractures
systematic_name: M35946
exact_source: HP:0002659
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002659
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. [https://orcid.org/0009-0006-4530-3154]


description_brief: Painless fractures due to injury
systematic_name: M35947
exact_source: HP:0002661
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002661
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased tendency to fractures following trauma, with fractures occurring without pain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Neoplasm
systematic_name: M35949
exact_source: HP:0002664
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002664
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). [https://orcid.org/0000-0002-0736-9199]


description_brief: Lymphoma
systematic_name: M35950
exact_source: HP:0002665
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002665
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pheochromocytoma
systematic_name: M35951
exact_source: HP:0002666
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002666
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. [https://orcid.org/0000-0002-0736-9199]


description_brief: Paraganglioma
systematic_name: M48708
exact_source: HP:0002668
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002668
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Osteosarcoma
systematic_name: M35953
exact_source: HP:0002669
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002669
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. [https://orcid.org/0000-0002-0736-9199]


description_brief: Coxa valga
systematic_name: M35956
exact_source: HP:0002673
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002673
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-6670-9157]


description_brief: Abnormal sella turcica morphology
systematic_name: M35959
exact_source: HP:0002679
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002679
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. [https://orcid.org/0000-0002-0736-9199]


description_brief: J-shaped sella turcica
systematic_name: M35960
exact_source: HP:0002680
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002680
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal calvaria morphology
systematic_name: M35962
exact_source: HP:0002683
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002683
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of frontal sinus
systematic_name: M35965
exact_source: HP:0002687
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002687
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. [https://orcid.org/0000-0001-5889-4463]


description_brief: Platybasia
systematic_name: M35967
exact_source: HP:0002691
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002691
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal skull base morphology
systematic_name: M35969
exact_source: HP:0002693
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002693
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sclerosis of skull base
systematic_name: M35970
exact_source: HP:0002694
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002694
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased bone density of the skull base without significant changes in bony contour. [https://orcid.org/0000-0002-0736-9199]


description_brief: Parietal foramina
systematic_name: M35972
exact_source: HP:0002697
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002697
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. [https://orcid.org/0000-0002-0736-9199]


description_brief: Downturned corners of mouth
systematic_name: M35977
exact_source: HP:0002714
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002714
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. [https://orcid.org/0000-0002-0736-9199, PMID:19125428]


description_brief: Recurrent bacterial infections
systematic_name: M35979
exact_source: HP:0002718
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002718
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Immunodeficiency
systematic_name: M35981
exact_source: HP:0002721
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002721
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. [PMID:20042227]


description_brief: Recurrent abscess formation
systematic_name: M35982
exact_source: HP:0002722
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002722
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent Aspergillus infections
systematic_name: M35983
exact_source: HP:0002724
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002724
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. [https://orcid.org/0000-0002-0736-9199]


description_brief: Systemic lupus erythematosus
systematic_name: M35984
exact_source: HP:0002725
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002725
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. [https://orcid.org/0000-0002-0736-9199]


description_brief: Follicular hyperplasia
systematic_name: M35987
exact_source: HP:0002729
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002729
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. [https://orcid.org/0000-0002-0736-9199, PMID:23281438, PMID:27929264]


description_brief: Chronic noninfectious lymphadenopathy
systematic_name: M35988
exact_source: HP:0002730
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002730
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A chronic form of lymphadenopathy that is not related to infection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent Klebsiella infections
systematic_name: M35992
exact_source: HP:0002742
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002742
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent enteroviral infections
systematic_name: M35993
exact_source: HP:0002743
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002743
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. [https://orcid.org/0000-0002-0736-9199]


description_brief: Rickets
systematic_name: M35996
exact_source: HP:0002748
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002748
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. [GARD:0005700]


description_brief: Osteomalacia
systematic_name: M35997
exact_source: HP:0002749
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002749
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. [https://orcid.org/0000-0002-0736-9199]


description_brief: Kyphoscoliosis
systematic_name: M35998
exact_source: HP:0002751
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002751
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. [https://orcid.org/0000-0002-0736-9199]


description_brief: Osteomyelitis
systematic_name: M36001
exact_source: HP:0002754
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002754
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. [https://orcid.org/0000-0002-0736-9199, PMID:15276398]


description_brief: Pathologic fracture
systematic_name: M36002
exact_source: HP:0002756
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002756
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent fractures
systematic_name: M36003
exact_source: HP:0002757
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002757
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). [https://orcid.org/0000-0002-0736-9199]


description_brief: Osteoarthritis
systematic_name: M36004
exact_source: HP:0002758
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002758
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. []


description_brief: Generalized joint hypermobility
systematic_name: M36005
exact_source: HP:0002761
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002761
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. [https://orcid.org/0000-0002-0736-9199, PMID:28145606]


description_brief: Multiple exostoses
systematic_name: M36006
exact_source: HP:0002762
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002762
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. [https://orcid.org/0000-0002-0736-9199]


description_brief: Upper airway obstruction
systematic_name: M36012
exact_source: HP:0002781
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002781
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased resistance to the passage of air in the upper airway. [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent lower respiratory tract infections
systematic_name: M36013
exact_source: HP:0002783
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002783
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tracheobronchomalacia
systematic_name: M36014
exact_source: HP:0002786
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002786
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. [https://orcid.org/0000-0002-0736-9199]


description_brief: Tracheal calcification
systematic_name: M47066
exact_source: HP:0002787
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002787
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Calcification (abnormal deposits of calcium) in the tracheal tissues. [https://orcid.org/0000-0002-0736-9199, PMID:18663210]


description_brief: Hypoventilation
systematic_name: M36017
exact_source: HP:0002791
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002791
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced vital capacity
systematic_name: M36018
exact_source: HP:0002792
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002792
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. [https://orcid.org/0000-0002-0736-9199]


description_brief: Osteolysis
systematic_name: M36021
exact_source: HP:0002797
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002797
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. [https://orcid.org/0000-0002-0736-9199]


description_brief: Congenital contracture
systematic_name: M36022
exact_source: HP:0002803
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002803
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. [https://orcid.org/0000-0002-0736-9199]


description_brief: Arthrogryposis multiplex congenita
systematic_name: M36023
exact_source: HP:0002804
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002804
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Multiple congenital contractures in different body areas. [https://orcid.org/0000-0002-0736-9199, PMID:23050160]


description_brief: Kyphosis
systematic_name: M36024
exact_source: HP:0002808
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002808
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Exaggerated anterior convexity of the thoracic vertebral column. [https://orcid.org/0000-0002-0736-9199]


description_brief: Coxa vara
systematic_name: M36025
exact_source: HP:0002812
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002812
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. [https://orcid.org/0000-0002-0736-9199]


description_brief: Caudal appendage
systematic_name: M36028
exact_source: HP:0002825
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002825
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a tail-like skin appendage located adjacent to the sacrum. [https://orcid.org/0000-0002-0736-9199, PMID:18266249, PMID:18629881, PMID:23904413]


description_brief: Hip dislocation
systematic_name: M43278
exact_source: HP:0002827
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002827
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Displacement of the femur from its normal location in the hip joint. [https://orcid.org/0000-0002-0736-9199]


description_brief: Calcific stippling
systematic_name: M36032
exact_source: HP:0002832
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002832
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). [https://orcid.org/0000-0002-0736-9199]


description_brief: Recurrent bronchitis
systematic_name: M36034
exact_source: HP:0002837
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002837
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. [https://orcid.org/0000-0002-0736-9199, ISBN:0199747725, PMID:28261574]


description_brief: Decreased specific anti-polysaccharide antibody level
systematic_name: M36040
exact_source: HP:0002848
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002848
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. [https://orcid.org/0000-0002-0736-9199]


description_brief: Absence of lymph node germinal center
systematic_name: M46079
exact_source: HP:0002849
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002849
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. [https://orcid.org/0000-0002-0736-9199]


description_brief: Decreased circulating total IgM
systematic_name: M36041
exact_source: HP:0002850
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002850
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally decreased level of immunoglobulin M (IgM) in blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Genu valgum
systematic_name: M36043
exact_source: HP:0002857
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002857
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The legs angle inward, such that the knees are close together and the ankles far apart. [https://orcid.org/0000-0002-0736-9199]


description_brief: Meningioma
systematic_name: M36044
exact_source: HP:0002858
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002858
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. [https://orcid.org/0000-0002-0736-9199]


description_brief: Melanoma
systematic_name: M36047
exact_source: HP:0002861
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002861
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). [https://orcid.org/0000-0002-0736-9199]


description_brief: Myelodysplasia
systematic_name: M36048
exact_source: HP:0002863
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002863
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal ilium morphology
systematic_name: M36050
exact_source: HP:0002867
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002867
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the ilium, the largest and uppermost bone of the pelvis. [https://orcid.org/0000-0002-0736-9199]


description_brief: Narrow iliac wing
systematic_name: M36051
exact_source: HP:0002868
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002868
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). [https://orcid.org/0000-0002-0736-9199]


description_brief: Flared iliac wing
systematic_name: M36052
exact_source: HP:0002869
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002869
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. [https://orcid.org/0000-0002-0736-9199, PMID:28744080]


description_brief: Obstructive sleep apnea
systematic_name: M36053
exact_source: HP:0002870
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002870
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. [PMID:35609941]


description_brief: Central apnea
systematic_name: M36054
exact_source: HP:0002871
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002871
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. [https://orcid.org/0000-0002-0736-9199]


description_brief: Apneic episodes precipitated by illness, fatigue, stress
systematic_name: M36055
exact_source: HP:0002872
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002872
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. [https://orcid.org/0000-0002-0736-9199]


description_brief: Exertional dyspnea
systematic_name: M36056
exact_source: HP:0002875
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002875
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. [PMID:29763022]


description_brief: Nocturnal hypoventilation
systematic_name: M36058
exact_source: HP:0002877
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002877
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide. [PMID:20308760]


description_brief: Respiratory failure
systematic_name: M36059
exact_source: HP:0002878
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002878
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. [https://orcid.org/0000-0002-0736-9199]


description_brief: Sudden episodic apnea
systematic_name: M36061
exact_source: HP:0002882
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002882
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Recurrent bouts of sudden, severe apnea that may be life-threatening. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hyperventilation
systematic_name: M36062
exact_source: HP:0002883
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002883
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hepatoblastoma
systematic_name: M36063
exact_source: HP:0002884
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002884
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. [eMedicine:986802, https://orcid.org/0000-0002-0736-9199]


description_brief: Medulloblastoma
systematic_name: M36064
exact_source: HP:0002885
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002885
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ependymoma
systematic_name: M36065
exact_source: HP:0002888
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002888
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of an ependymoma of the central nervous system. [https://orcid.org/0000-0002-0736-9199]


description_brief: Pituitary adenoma
systematic_name: M36067
exact_source: HP:0002893
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002893
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). [https://orcid.org/0000-0002-0538-4547, PMID:32119338]


description_brief: Papillary thyroid carcinoma
systematic_name: M36069
exact_source: HP:0002895
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002895
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a papillary adenocarcinoma of the thyroid gland. [https://orcid.org/0000-0002-0736-9199]


description_brief: Parathyroid adenoma
systematic_name: M41267
exact_source: HP:0002897
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002897
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A benign tumor of the parathyroid gland that can cause hyperparathyroidism. [https://orcid.org/0000-0002-0736-9199]


description_brief: Hypokalemia
systematic_name: M36072
exact_source: HP:0002900
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002900
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally decreased potassium concentration in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Microscopic hematuria
systematic_name: M36076
exact_source: HP:0002907
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002907
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Microscopic hematuria detected by dipstick or microscopic examination of the urine. [https://orcid.org/0009-0006-4530-3154]


description_brief: Generalized aminoaciduria
systematic_name: M36078
exact_source: HP:0002909
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002909
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased concentration of all types of amino acid in the urine. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated circulating hepatic transaminase concentration
systematic_name: M36079
exact_source: HP:0002910
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002910
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. [https://orcid.org/0000-0002-0736-9199]


description_brief: Methylmalonic acidemia
systematic_name: M36080
exact_source: HP:0002912
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002912
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased concentration of methylmalonic acid in the blood. [https://orcid.org/0000-0002-0736-9199, PMID:26101005]


description_brief: Hypermagnesemia
systematic_name: M36084
exact_source: HP:0002918
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002918
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormally increased magnesium concentration in the blood. [https://orcid.org/0000-0002-0736-9199]


description_brief: Ketonuria
systematic_name: M36085
exact_source: HP:0002919
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002919
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. [https://orcid.org/0000-0002-0736-9199, PMID:11344564]


description_brief: Decreased circulating ACTH concentration
systematic_name: M36086
exact_source: HP:0002920
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002920
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. [https://orcid.org/0000-0002-0736-9199]


description_brief: Rheumatoid factor positive
systematic_name: M36088
exact_source: HP:0002923
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002923
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence in the serum of an autoantibody directed against the Fc portion of IgG. [https://orcid.org/0000-0002-0736-9199]


description_brief: Elevated circulating thyroid-stimulating hormone concentration
systematic_name: M43279
exact_source: HP:0002925
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002925
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. [https://orcid.org/0000-0002-0538-4547]


description_brief: Distal sensory impairment
systematic_name: M36092
exact_source: HP:0002936
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002936
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal reduction in sensation in the distal portions of the extremities. [https://orcid.org/0000-0002-0736-9199]


description_brief: Lumbar hyperlordosis
systematic_name: M36094
exact_source: HP:0002938
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002938
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal accentuation of the inward curvature of the spine in the lumbar region. [https://orcid.org/0000-0002-0736-9199]


description_brief: Thoracic kyphosis
systematic_name: M36095
exact_source: HP:0002942
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002942
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Over curvature of the thoracic region, leading to a round back or if sever to a hump. [https://orcid.org/0000-0002-0736-9199]


description_brief: Cervical kyphosis
systematic_name: M36099
exact_source: HP:0002947
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002947
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Vertebral fusion
systematic_name: M36100
exact_source: HP:0002948
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002948
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A developmental defect leading to the union of two adjacent vertebrae. [https://orcid.org/0000-0002-0736-9199]


description_brief: Fused cervical vertebrae
systematic_name: M36101
exact_source: HP:0002949
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002949
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. []


description_brief: Granulomatosis
systematic_name: M36103
exact_source: HP:0002955
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002955
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. [https://orcid.org/0000-0002-0736-9199, PMID:10908370, PMID:937513]


description_brief: Immune dysregulation
systematic_name: M36104
exact_source: HP:0002958
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002958
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. [PMID:26233425]


description_brief: Autoimmunity
systematic_name: M36105
exact_source: HP:0002960
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002960
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The occurrence of an immune reaction against the organism's own cells or tissues. [https://orcid.org/0000-0002-0736-9199]


description_brief: Dysgammaglobulinemia
systematic_name: M41268
exact_source: HP:0002961
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002961
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Selective deficiency of one or more, but not all, classes of immunoglobulins. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal delayed hypersensitivity skin test
systematic_name: M36106
exact_source: HP:0002963
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002963
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. [https://orcid.org/0000-0002-0736-9199]


description_brief: Genu varum
systematic_name: M36109
exact_source: HP:0002970
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002970
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. [https://orcid.org/0000-0002-0736-9199]


description_brief: Reduced delayed hypersensitivity
systematic_name: M41269
exact_source: HP:0002972
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002972
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Decreased ability to react to a delayed hypersensitivity skin test. [https://orcid.org/0000-0002-0736-9199]


description_brief: Radioulnar synostosis
systematic_name: M36111
exact_source: HP:0002974
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002974
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormal osseous union (fusion) between the radius and the ulna. [https://orcid.org/0000-0002-0736-9199]


description_brief: Bowing of the legs
systematic_name: M36112
exact_source: HP:0002979
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002979
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 leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormality of the calf
systematic_name: M36114
exact_source: HP:0002981
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002981
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the calf, i.e. of the posterior part of the lower leg. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal fibula morphology
systematic_name: M36121
exact_source: HP:0002991
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002991
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly of the calf bone (fibula), one of the two bones of the calf. [https://orcid.org/0000-0002-0736-9199]


description_brief: Patellar dislocation
systematic_name: M36125
exact_source: HP:0002999
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0002999
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. [https://orcid.org/0000-0002-0736-9199]


description_brief: Prolonged bleeding time
systematic_name: M36129
exact_source: HP:0003010
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003010
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. [https://orcid.org/0000-0002-5523-511X]


description_brief: Flared metaphysis
systematic_name: M36130
exact_source: HP:0003015
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003015
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. [https://orcid.org/0000-0002-0736-9199, PMID:12853662]


description_brief: Abnormality of the wrist
systematic_name: M36132
exact_source: HP:0003019
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003019
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Abnormality of the wrist, the structure connecting the hand and the forearm. [https://orcid.org/0000-0002-0736-9199]


description_brief: Metaphyseal cupping
systematic_name: M36134
exact_source: HP:0003021
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003021
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. [https://orcid.org/0000-0002-0736-9199]


description_brief: Metaphyseal irregularity
systematic_name: M36135
exact_source: HP:0003025
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003025
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Irregularity of the normally smooth surface of the metaphyses. [https://orcid.org/0000-0002-0736-9199]


description_brief: Mesomelia
systematic_name: M36137
exact_source: HP:0003027
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003027
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. [https://orcid.org/0009-0006-4530-3154]


description_brief: Diaphyseal sclerosis
systematic_name: M36141
exact_source: HP:0003034
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003034
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. [https://orcid.org/0000-0002-0736-9199]


description_brief: Abnormal shoulder morphology
systematic_name: M36146
exact_source: HP:0003043
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003043
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. [https://orcid.org/0000-0002-0736-9199]


description_brief: Madelung deformity
systematic_name: M47069
exact_source: HP:0003067
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003067
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [https://orcid.org/0000-0002-0736-9199, PMID:12362035]


description_brief: Fractures of the long bones
systematic_name: M36163
exact_source: HP:0003084
external_details_URL: https://hpo.jax.org/app/browse/term/HP:0003084
source_species_code: HS
contributor: Human Phenotype Ontology Group
contrib_organization: The Jackson Laboratory (JAX)
description_full:
  An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). [https://orcid.org/0000-0002-0736-9199]


