| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000069 | Abnormality of the ureters | "An abnormality of the ureters, the ductal organs that transport urine from the kidneys to the urinary bladder." [HPO:curators] |
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| HP:0000133 | Gonadal dysgenesis | |
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| HP:0000138 | Ovarian cysts | |
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| HP:0000153 | Abnormality of the mouth | "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] |
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| HP:0000771 | Gynecomastia | |
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| HP:0001003 | Multiple lentigines | |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001080 | Biliary tract abnormality | |
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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:0001428 | Somatic mutation | |
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| HP:0001891 | Iron deficiency anemia | |
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| HP:0001903 | Anemia | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002013 | Vomiting | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002035 | Rectal prolapse | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002576 | Intussusception | |
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| HP:0002584 | Intestinal bleeding | |
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| HP:0002672 | Gastrointestinal carcinoma | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0003002 | Breast cancer | |
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| HP:0003745 | Sporadic | |
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| HP:0004390 | Hamartomatous polyps | "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestine. Patients with Cowden-Syndrom for example often have multpile hamartomatous gastrointestinal polyps." [HPO:curators] |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0005244 | Gastrointestinal infarctions | |
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| HP:0005264 | Abnormality of the gallbladder | |
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| HP:0005562 | Multiple renal cysts | |
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| HP:0005584 | Renal cell carcinoma | "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators] |
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| HP:0006725 | Pancreatic adenocarcinoma | |
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| HP:0008204 | Precocious puberty with Sertoli cell tumor | |
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| HP:0008675 | Enlarged polycystic ovaries | |
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| HP:0009792 | Teratoma | "Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers." [HPO:curators] |
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| HP:0012126 | Stomach cancer | "A cancer arising in any part of the stomach." [HPO:probinson] |
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| HP:0012720 | Neoplasm of the nose | "Cancer of the nasal cavity." [HPO:probinson] |
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| HP:0030079 | Cervix cancer | "A tumor of the uterine cervix." [] |
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| HP:0100273 | Neoplasia of the colon | |
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| HP:0100526 | Neoplasia of the lungs | |
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| HP:0100574 | Biliary tract neoplasm | "A `neoplasm` (MPATH:218) of the `biliary system` (FMA:79646)." [HPO:probinson] |
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| HP:0100582 | Nasal polyposis | "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken] |
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| HP:0100644 | Melanonychia | |
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| HP:0100669 | Abnormal pigmentation of oral cavity | |
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| HP:0100743 | Neoplasm of the rectum | |
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| HP:0100751 | Esophageal neoplasm | |
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| HP:0100759 | Clubbing of fingers | "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken] |
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| HP:0100833 | Neoplasm of the small intestine | "The presence of a `neoplasm` (MPATH:218) of the small intestine." [HPO:probinson] |
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| HP:0410067 | Increased level of L-fucose in urine | "An increase in the level of L-fucose in the urine." [PMID:2311216] |
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