| 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:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000670 | Carious teeth | |
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| HP:0000705 | Amelogenesis imperfecta | |
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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:0000982 | Palmoplantar keratoderma | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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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:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001522 | Death in infancy | |
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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:0001602 | Laryngeal stenosis | |
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| HP:0001609 | Hoarse voice | |
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| HP:0001612 | Weak cry | |
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| HP:0001615 | Hoarse cry | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001806 | Onycholysis | |
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| HP:0001808 | Fragile nails | |
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| HP:0001818 | Paronychia | "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)." [HPO:curators] |
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| HP:0001903 | Anemia | |
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| HP:0001944 | Dehydration | |
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| HP:0002021 | Pyloric stenosis | |
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| HP:0002043 | Esophageal stricture | |
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| HP:0002094 | Dyspnea | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0002878 | Early respiratory failure | |
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| HP:0003341 | Skin cleavage in the lamina lucida | |
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| HP:0003577 | Onset at birth | |
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| HP:0003593 | Early onset | |
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| HP:0004057 | Mitten deformity | |
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| HP:0004552 | scarring alopecia of scalp | |
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| HP:0006089 | Palmar hyperhidrosis | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0006511 | Laryngeal stridor | |
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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:0007556 | Plantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the sole of the foot." [HPO:probinson] |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008390 | Recurrent loss of toenails and 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: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:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [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: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] |
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| HP:0200097 | Oral mucusa blisters | |
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