| 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:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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| HP:0000963 | Thin skin | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0000968 | Ectodermal dysplasia | |
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| HP:0000988 | Skin rash | |
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| HP:0001056 | Milia | |
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| HP:0001072 | Thickened skin | |
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| HP:0001182 | Tapered fingers | |
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| HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0007455 | Adermatoglyphia | |
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| HP:0007477 | Abnormal dermatoglyphics | "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:curators] |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0009775 | Amniotic bands | "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strangs." [HPO:curators] |
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| HP:0010621 | Cutaneous syndactyly of the toes | "Webbing or fusion of the toes involving soft parts only." [HPO:curators] |
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| HP:0010765 | Palmar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand." [HPO:probinson] |
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| HP:0025092 | Epidermal acanthosis | "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." [] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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