| 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:0000133 | Gonadal dysgenesis | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000343 | Long philtrum | |
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| HP:0000365 | Hearing loss | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000598 | Abnormality of the ears | |
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| HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0000988 | Skin rash | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001019 | Erythroderma | "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] |
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| HP:0001025 | Urticaria | |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001067 | Neurofibromas | |
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| HP:0001072 | Thickened skin | |
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| HP:0001100 | Heterochromia iridis | "Heterochromia iridis is a difference in the color of the iris in the two eyes." [HPO:curators] |
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| HP:0001176 | Large hands | |
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| HP:0001249 | Mental retardation | |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001392 | Abnormality of the liver | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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| HP:0001903 | Anemia | |
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| HP:0001939 | Metabolism abnormality | |
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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:0002019 | Constipation | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002211 | White forelock | |
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| HP:0002226 | White eyebrows | |
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| HP:0002227 | White eyelashes | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002648 | Abnormality of skull shape | "An abnormality of the shape of the skull." [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:0002863 | Myelodysplasia | |
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| HP:0003745 | Sporadic | |
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| HP:0004808 | Acute myeloid leukemia | "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators] |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0005506 | Chronic myelogenous leukemia | |
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| HP:0005587 | Profuse pigmented skin lesions | |
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| HP:0006543 | Cardiorespiratory arrest | |
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| HP:0006753 | Increased gastric cancer | |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0007443 | Partial albinism | |
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| HP:0007542 | Absent pigmentation of ventral chest, abdomen and limbs | |
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| HP:0007544 | Piebald pigmentary variegation | |
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| HP:0007583 | Telangiectasia macularis eruptiva perstans | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008069 | Neoplasia of the skin | |
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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:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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| HP:0012325 | Chronic myelomonocytic leukemia | "A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." [HPO:probinson, MeSH:D015477] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012539 | Non-Hodgkin lymphoma | "A typer of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells." [HPO:probinson] |
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| HP:0012733 | Macule | "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson] |
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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:0100495 | Mastocytosis | "The presence of too many `mast cells` (CL:0000097) and CD34+ mast cell precursors in the body." [HPO:sdoelken] |
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| HP:0100723 | Gastrointestinal stroma tumor | |
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| HP:0100743 | Neoplasm of the rectum | |
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| HP:0100751 | Esophageal neoplasm | |
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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:0200151 | Cutaneous mastocytosis | |
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