HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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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] |
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HP:0000535 | Sparse eyebrows | |
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HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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HP:0000695 | Neonatal teeth | |
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HP:0000982 | Palmoplantar keratoderma | |
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HP:0000989 | Pruritus | "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." [HPO:curators] |
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HP:0001030 | Fragile skin | |
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HP:0001036 | Parakeratosis | |
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HP:0001057 | Aplasia cutis congenita | "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." [HPO:curators] |
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HP:0001279 | Syncope | "Syncope refers 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. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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HP:0001425 | Heterogeneous | |
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HP:0001508 | Failure to thrive | |
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HP:0001595 | Hair abnormality | |
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HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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HP:0001626 | Abnormality of the cardiovascular system | "Any abnormality of the heart or vasculature." [HPO:curators] |
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HP:0001635 | Congestive heart failure | "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." [HPO:curators] |
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HP:0001638 | Cardiomyopathy | |
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HP:0001640 | Cardiomegaly | |
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HP:0001644 | Dilated cardiomyopathy | |
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HP:0001645 | Sudden cardiac death | |
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HP:0001663 | Ventricular fibrillation | |
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HP:0001741 | Phimosis | |
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HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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HP:0001808 | Fragile nails | |
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HP:0001820 | Leukonychia | |
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HP:0001852 | Gap between first and second toes | "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators] |
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HP:0002020 | Gastroesophageal reflux | |
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HP:0002110 | Bronchiectasis | |
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HP:0002164 | Nail dysplasia | |
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HP:0002206 | Pulmonary fibrosis | |
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HP:0002224 | Woolly hair | |
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HP:0002289 | Alopecia, complete | |
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HP:0002875 | Exertional dyspnea | |
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HP:0003811 | Neonatal death | |
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HP:0004057 | Mitten deformity | |
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HP:0004756 | Ventricular tachycardia | |
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HP:0004791 | Esophageal ulceration | |
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HP:0005588 | Palmoplantar keratoderma, patchy | |
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HP:0006682 | Ventricular extrasystoles | "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [HPO:curators] |
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HP:0007475 | Epidermolytic hyperkeratosis | |
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HP:0007548 | Palmoplantar keratosis with erythema and scale | |
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HP:0008064 | Ichthyosiform abnormality of the skin | |
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HP:0008094 | Widely spaced toes | "The presence of an abnormally wide spacing between the toes." [HPO:curators] |
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HP:0008404 | Nail dystrophy, variable | |
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HP:0009804 | Reduced number of teeth | |
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HP:0009884 | Tapered distal phalanges of the hand | |
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HP:0010444 | Pulmonary insufficiency | "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators] |
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HP:0011663 | Arrhythmogenic right ventricular cardiomyopathy | "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria." [pmid:17916581] |
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HP:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
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HP:0025175 | Honeycomb lung | "Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis." [] |
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HP:0025179 | Ground-glass opacification | "A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings." [] |
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HP:0025390 | Reticular pattern on pulmonary HRCT | "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773] |
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HP:0030816 | Gingival recession | "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth." [] |
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HP:0030830 | Rales | "Abnormal breath sounds characterized by discontinuous clicking or rattling." [UToronto:chum] |
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HP:0100759 | Clubbing of fingers | "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken] |
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HP:0100792 | Acantolysis | "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes." [HPO:sdoelken] |
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HP:0200041 | skin erosion | "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:SKOEHLER] |
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HP:0200097 | Oral mucusa blisters | |
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