| 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:0000126 | Hydronephrosis | |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000322 | Short philtrum | |
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| HP:0000365 | Hearing loss | |
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| HP:0000411 | Protruding ears | |
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| HP:0000444 | Beaked nose | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000520 | Proptosis | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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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:0000670 | Carious teeth | |
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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:0000706 | Unerupted teeth | |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0001012 | Lipomas | "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:curators] |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001402 | Hepatocellular carcinoma | |
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| HP:0001413 | Micronodular cirrhosis | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001601 | Laryngomalacia | |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001802 | Absent toenails | |
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| HP:0001817 | Absent fingernails | |
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| HP:0001849 | Oligodactyly (feet) | "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002024 | Malabsorption | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002797 | Osteolysis | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002829 | Arthralgia | |
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| HP:0002884 | Hepatoblastoma | |
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| HP:0002885 | Medulloblastoma | |
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| HP:0002891 | Uterine leiomyosarcoma | |
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| HP:0002895 | Papillary thyroid carcinoma | |
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| HP:0002974 | Radioulnar synostosis | "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:curators] |
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| HP:0002983 | Micromelia | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0003003 | Colon cancer | |
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| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0004298 | Abnormality of the abdominal wall | "The presence of any abnormality affecting the abdominal wall." [HPO:curators] |
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| HP:0004394 | Multiple gastric polyps | |
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| HP:0004736 | Ectopic kidney with fusion | |
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| HP:0004783 | multiple duodenal polyps | |
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| HP:0005048 | fusion of carpal bones, especially capitate and hamate | |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0005227 | Multiple adenomatous colon polyps | |
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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:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006572 | Subacute progressive viral hepatitis | |
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| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | |
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| HP:0006722 | Small intestine carcinoid | |
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| HP:0006740 | Transitional cell carcinoma of the bladder | |
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| HP:0006744 | Adrenocortical carcinoma | |
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| HP:0006753 | Increased gastric cancer | |
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| HP:0006771 | Duodenal carcinoma | |
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| HP:0007477 | Abnormal dermatoglyphics | "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:curators] |
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| HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0008256 | Adrenocortical adenoma | "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators] |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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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:0009778 | Hypoplastic/small thumb | |
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| HP:0010562 | Keloids | "Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair." [MeSH:D007627] |
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| HP:0010619 | Fibroma of the breast | "A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman." [HPO:curators] |
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| HP:0011068 | Odontoma | "The presence of an `odontoma` (MPATH:387)." [HPO:ibailleulforestier] |
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| HP:0011069 | Increased number of teeth | "The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth." [HPO:ibailleulforestier] |
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| HP:0012126 | Stomach cancer | "A cancer arising in any part of the stomach." [HPO:probinson] |
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| HP:0100245 | Desmoid tumors | "Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine." [HPO:sdoelken] |
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| HP:0100246 | Osteoma | "Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant." [HPO:sdoelken] |
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| HP:0100749 | Chest pain | |
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| HP:0100806 | Sepsis | |
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| HP:0200008 | Multiple intestinal polyps | |
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| HP:0200040 | Skin cysts | "The presence of one or more `cysts` (MPATH:62) of the `skin` (FMA:7163)." [HPO:skoehler] |
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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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