| 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:0000153 | Abnormality of the mouth | "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001036 | Parakeratosis | |
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| HP:0001541 | Ascites | |
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| HP:0001824 | Weight loss | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002033 | Poor suck | "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002250 | Abnormality of the large intestine | "Any abnormality of the large intestine, which consists of the cecum and colon." [HPO:curators] |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| HP:0004396 | Poor appetite | |
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| HP:0007447 | Hyperkeratosis, diffuse palmoplantar | |
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| HP:0011459 | Esophageal carcinoma | "The presence of a `carcinoma` (MPATH:549) of the `esophagus` (FMA:7131)." [DDD:hfirth] |
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| HP:0045026 | Abnormality of the mediastinum | |
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| HP:0100751 | Esophageal neoplasm | |
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| HP:0100760 | Clubbing of toes | "Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken] |
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