| 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: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:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [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:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0000958 | Dry skin | |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001036 | Parakeratosis | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001871 | Hematological abnormality | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0004552 | scarring alopecia of scalp | |
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| HP:0004782 | Hypotrichosis of the scalp | "Reduced or lacking hair growth of the scalp." [HPO:curators] |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0008064 | Ichthyosiform abnormality of the skin | |
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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:0030151 | Cholangitis | "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both." [HPO:probinson] |
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| HP:0040162 | Orthokeratosis | "Formation of an anuclear keratin layer" [] |
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