| 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:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000597 | Ophthalmoparesis | "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000953 | Hyperpigmentation | |
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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:0000972 | Palmoplantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson] |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000978 | Ecchymoses | |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0000988 | Skin rash | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001010 | Hypopigmentation of the skin | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001056 | Milia | |
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| HP:0001075 | Atrophic scars | |
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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:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001805 | Thickened nails | |
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| HP:0001807 | Nail ridging | |
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| HP:0001933 | Subcutaneous hemorrhage | |
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| HP:0002019 | Constipation | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002745 | Oral leukoplakia | |
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| HP:0002793 | Abnormal respiratory patterns | |
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| HP:0003473 | Mild-moderate fatigable weakness of limb muscles | |
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| HP:0003577 | Onset at birth | |
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| HP:0003623 | Onset in neonatal period | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0005595 | Hyperkeratosis, generalized | |
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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:0007427 | Reticulated skin pigmentation | |
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| HP:0007438 | mottled pigmentation of the trunk and proximal extremities | |
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| HP:0007446 | Epidermolysis bullosa involving hands and feet only | |
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| HP:0007456 | Progressive reticulate hyperpigmentation | |
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| HP:0007494 | Discrete 2 to 5-mm hyper- and hypopigmented macules | |
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| HP:0007495 | Prematurely aged appearance | |
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| HP:0007530 | Punctate palmoplantar hyperkeratosis | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [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: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:0200097 | Oral mucusa blisters | |
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