| 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:0000016 | Urinary retention | |
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| HP:0000083 | Renal failure | |
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| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000142 | Abnormality of the vagina | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000171 | Microglossia | |
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| HP:0000365 | Hearing loss | |
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| HP:0000402 | Stenotic external auditory canal | "An abnormal narrowing of the external auditory canal." [HPO:curators] |
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| HP:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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| HP:0000498 | Blepharitis | "Inflammation of the eyelids." [HPO:curators] |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000559 | Corneal scarring | |
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| HP:0000572 | Visual loss | |
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| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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| HP:0000670 | Carious teeth | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "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, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0000962 | Hyperkeratosis | "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." [HPO:curators] |
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| HP:0000963 | Thin skin | |
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| HP:0000987 | Scarring | |
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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:0001053 | Hypopigmented skin patches | |
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| HP:0001056 | Milia | |
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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:0001075 | Atrophic scars | |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001371 | Contractures | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001581 | Recurrent skin infections | "Infections of the skin that happen multiple times." [HPO:curators] |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001802 | Absent toenails | |
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| HP:0001810 | Dystrophic toenails | |
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| HP:0001817 | Absent fingernails | |
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| HP:0001903 | Anemia | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002019 | Constipation | |
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| HP:0002043 | Esophageal stricture | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002860 | Squamous cell carcinoma | |
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| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0004057 | Mitten deformity | |
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| HP:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0004378 | Abnormality of the anus | "Abnormality of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0004395 | Malnutrition | |
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| HP:0004552 | scarring alopecia of scalp | |
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| HP:0005203 | Spontaneous esophageal perforation | |
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| HP:0005505 | Refractory anemia | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0006739 | Squamous cell carcinoma of the skin | "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] |
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| HP:0007383 | Congenital localized absence of skin | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008388 | Abnormality of the toenails | |
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| HP:0008391 | Mildly dystrophic fingernails | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010296 | Ankyloglossia | "Short or anteriorly attached lingual frenulum associated with limited mobility of the tongue." [pmid:19125428] |
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| HP:0011457 | Loss of eyelashes | "This term refers to the loss of eyelashes that were previously present." [HPO:probinson] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012221 | Pretibial blistering | "A type of blistering that affects the skin of the tibial region." [HPO:probinson, pmid:15265795] |
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| HP:0012227 | Urethral stricture | "Narrowing of the urethra associated with inflammation or scar tissue." [HPO:probinson] |
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| HP:0012473 | Tongue atrophy | "Wasting of the `tongue` (FMA:54640)." [ORCID:0000-0001-5208-3432] |
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| HP:0100825 | Cheilitis | "Inflammation of the lip." [HPO:sdoelken] |
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| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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| HP:0200036 | skin nodules | "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." [HPO:SKOEHLER] |
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| HP:0200037 | skin vesicle | "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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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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