| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000488 | Retinopathy | |
Show
|
| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001369 | Arthritis | |
Show
|
| HP:0001482 | Subcutaneous nodules | |
Show
|
| HP:0001639 | Hypertrophic cardiomyopathy | |
Show
|
| HP:0001646 | Abnormality of the aortic valve | "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators] |
Show
|
| HP:0001658 | Myocardial infarction | |
Show
|
| HP:0001824 | Weight loss | |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0001945 | Fever | |
Show
|
| HP:0002039 | Anorexia | |
Show
|
| HP:0002076 | Migraine | |
Show
|
| HP:0002092 | Pulmonary hypertension | |
Show
|
| HP:0002105 | Hemoptysis | "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] |
Show
|
| HP:0002167 | Neurological speech impairment | |
Show
|
| HP:0002633 | Vasculitis | |
Show
|
| HP:0002637 | Cerebral ischemia | |
Show
|
| HP:0002721 | Immunodeficiency | |
Show
|
| HP:0002793 | Abnormal respiratory patterns | |
Show
|
| HP:0002829 | Arthralgia | |
Show
|
| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
Show
|
| HP:0004306 | Abnormality of the endocardium | "An abnormality of the `endocardium` (FMA:7280)." [HPO:probinson] |
Show
|
| HP:0004372 | Reduced consciousness/confusion | |
Show
|
| HP:0004970 | Ascending aortic dilation | |
Show
|
| HP:0005244 | Gastrointestinal infarctions | |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
| HP:0100533 | Inflammatory abnormality of the eye | "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] |
Show
|
| HP:0100576 | Amaurosis fugax | "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] |
Show
|
| HP:0100735 | Hypertensive crisis | |
Show
|
| HP:0100749 | Chest pain | |
Show
|
| HP:0100758 | Gangrene | "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] |
Show
|
| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
Show
|
