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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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HP:0000080 | Genital functional abnormality | |
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HP:0000238 | Hydrocephalus | |
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HP:0000505 | Impaired vision | |
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HP:0000737 | Irritability | |
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HP:0000739 | Anxiety | |
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HP:0000819 | Diabetes mellitus | |
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HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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HP:0000859 | Increased plasma aldosterone | |
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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:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
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HP:0001065 | Striae distensae | "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators] |
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HP:0001085 | Papilledema | "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:curators] |
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HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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HP:0001276 | Hypertonia | |
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HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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HP:0001386 | Joint swelling | |
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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:0001433 | Hepatosplenomegaly | |
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HP:0001658 | Myocardial infarction | |
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HP:0001738 | Exocrine pancreatic insufficiency | |
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HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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HP:0001824 | Weight loss | |
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HP:0001939 | Metabolism abnormality | |
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HP:0001945 | Fever | |
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HP:0001962 | Palpitations | |
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HP:0002013 | Vomiting | |
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HP:0002017 | Nausea and vomiting | |
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HP:0002018 | Nausea | |
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HP:0002027 | Abdominal pain | |
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HP:0002039 | Anorexia | |
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HP:0002254 | Intermittent diarrhea | |
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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:0002326 | Transient ischemic attack | |
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HP:0002448 | Encephalopathy, progressive | |
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HP:0002488 | Acute leukemia | |
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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:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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HP:0002669 | Osteogenic sarcoma | |
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HP:0002716 | Lymphadenopathy | |
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HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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HP:0002797 | Osteolysis | |
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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:0002863 | Myelodysplasia | |
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HP:0002891 | Uterine leiomyosarcoma | |
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HP:0002894 | Pancreatic cancer | |
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HP:0002896 | Liver cancer | |
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HP:0002900 | Hypokalemia | |
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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:0003010 | Prolonged bleeding time | |
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HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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HP:0003418 | Back pain | |
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HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test | |
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HP:0004324 | Increased body weight | |
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HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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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:0004420 | Arterial thrombosis | |
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HP:0004936 | Venous thrombosis | |
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HP:0005249 | Functional intestinal obstruction | |
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HP:0005513 | Increased megakaryocyte precursor cells | |
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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:0006489 | Abnormality of the femoral metaphysis | |
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HP:0006491 | Abnormality of the tibial metaphysis | |
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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:0006725 | Pancreatic adenocarcinoma | |
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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:0008069 | Neoplasia of the skin | |
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HP:0009919 | Retinoblastoma | "A tumor of the eye originating from cells of the retina." [HPO:curators] |
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HP:0010982 | Polygenic inheritance | "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961] |
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HP:0011027 | Abnormality of the fallopian tube | "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson] |
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HP:0011748 | Adrenocorticotropic hormone deficiency | "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark] |
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HP:0011875 | Abnormal platelet morphology | "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson] |
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HP:0011974 | Myelofibrosis | "Replacement of bone marrow by fibrous tissue." [HPO:probinson] |
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HP:0012030 | Increased urinary cortisol level | "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the urine." [HPO:probinson] |
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HP:0012125 | Prostate cancer | "A cancer of the `prostate` (FMA:9600)." [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:0012531 | Pain | "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] |
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HP:0025134 | Increased serum estradiol | "An elevation above normal limits of the concentration of estradiol in the circulation." [] |
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HP:0025269 | Panic attack | "A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying." [] |
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HP:0025318 | Ovarian carcinoma | "A malignant neoplasm originating from the surface ovarian epithelium." [] |
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HP:0025380 | Increased serum androstenedione | "Increased level of circulating 4-androstenedione." [] |
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HP:0025436 | Elevated serum 11-deoxycortisol | "Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone." [] |
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HP:0030078 | Lung adenocarcinoma | |
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HP:0030406 | Primary peritoneal carcinoma | "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson] |
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HP:0030448 | Soft tissue sarcoma | "A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues." [HPO:probinson] |
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HP:0045040 | Abnormal lactate dehydrogenase activity | |
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HP:0100273 | Neoplasia of the colon | |
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HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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HP:0100576 | Amaurosis fugax | "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] |
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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:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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HP:0100630 | Neoplasia of the nasopharynx | |
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HP:0100641 | Cortical adrenal neoplasia | |
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HP:0100749 | Chest pain | |
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HP:0200022 | Choroid plexus papilloma | "`Choroid plexus papilloma` (MPATH:246) is a histologically benign `neoplasm` (MPATH:218) located in the ventricular system of the `choroid plexus` (FMA:61934)." [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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HP:0500022 | Abnormal serum dehydroepiandrosterone level | "A deviation from the normal concentration of dehydroepiandrosterone in the circulation." [PMID:27979632] |
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