| 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:0000488 | Retinopathy | |
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| HP:0000819 | Diabetes mellitus | |
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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:0000958 | Dry skin | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001480 | Freckling | |
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| HP:0001595 | Hair abnormality | |
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| HP:0001738 | Exocrine pancreatic insufficiency | |
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| HP:0001824 | Weight loss | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002039 | Anorexia | |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002254 | Intermittent diarrhea | |
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| HP:0002448 | Encephalopathy, progressive | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002669 | Osteogenic sarcoma | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002860 | Squamous cell carcinoma | |
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| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0002896 | Liver cancer | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003002 | Breast cancer | |
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| HP:0003003 | Colon cancer | |
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| HP:0003418 | Back pain | |
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| HP:0003764 | Abnormal or excess nevi | |
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| HP:0004375 | Neoplasia of the nervous system | |
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| HP:0004389 | Intestinal pseudo-obstruction | |
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| HP:0004396 | Poor appetite | |
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| HP:0005249 | Functional intestinal obstruction | |
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| HP:0006725 | Pancreatic adenocarcinoma | |
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| HP:0006753 | Increased gastric cancer | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0009592 | Astrocytoma | "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators] |
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| HP:0012056 | Cutaneous melanoma | "The presence of a `melanoma` (MPATH:359) of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0012142 | Pancreatic squamous cell carcinoma | "A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium." [HPO:probinson, pmid:19079631] |
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| HP:0012182 | Oropharyngeal squamous cell carcinoma | "A squamous cell carcinoma that originates in the oropharnyx." [HPO:probinson] |
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| HP:0012334 | Extrahepatic cholestasis | "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson] |
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| HP:0012432 | Chronic fatigue | "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432] |
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| HP:0025318 | Ovarian carcinoma | "A malignant neoplasm originating from the surface ovarian epithelium." [] |
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| HP:0100013 | Neoplasia of the breast | |
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| HP:0100242 | Sarcoma | "The presence of a `sarcoma` (MPATH:551)." [HPO:sdoelken] |
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| HP:0100273 | Neoplasia of the colon | |
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| HP:0100592 | Peritoneal abscess | "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson] |
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| HP:0100641 | Cortical adrenal neoplasia | |
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| HP:0100763 | Abnormality of the lymphatic system | |
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