| 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] |
Show
|
| 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] |
Show
|
| HP:0000054 | Micropenis | |
Show
|
| HP:0000083 | Renal failure | |
Show
|
| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
Show
|
| HP:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
Show
|
| HP:0000194 | Open mouth | |
Show
|
| 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] |
Show
|
| HP:0000280 | Coarse facial features | |
Show
|
| HP:0000293 | Full cheeks | |
Show
|
| HP:0000322 | Short philtrum | |
Show
|
| HP:0000341 | Narrow forehead | "An abnormally reduced side-to-side width of the forehead." [HPO:curators] |
Show
|
| HP:0000378 | Cup-shaped ears | "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] |
Show
|
| HP:0000391 | Thickened helices | |
Show
|
| HP:0000426 | Prominent nasal bridge | |
Show
|
| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
Show
|
| HP:0000451 | Triangular nasal tip | |
Show
|
| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
Show
|
| HP:0000470 | Short neck | |
Show
|
| HP:0000483 | Astigmatism | |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000490 | Deep set eyes | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000554 | Uveitis | "Inflammation of one or all portions of the uveal tract." [HPO:curators] |
Show
|
| HP:0000582 | Upslanting palpebral fissures | |
Show
|
| HP:0000687 | Widely spaced teeth | |
Show
|
| HP:0000692 | Misalignment of teeth | |
Show
|
| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
Show
|
| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
Show
|
| HP:0000729 | Pervasive developmental disorder | |
Show
|
| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
Show
|
| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001053 | Hypopigmented skin patches | |
Show
|
| HP:0001063 | Acrocyanosis | |
Show
|
| HP:0001081 | Cholelithiasis | |
Show
|
| HP:0001182 | Tapered fingers | |
Show
|
| HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001270 | Motor retardation | |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001298 | Encephalopathy | |
Show
|
| HP:0001328 | Learning disability | |
Show
|
| HP:0001344 | Absent speech development | |
Show
|
| HP:0001394 | Cirrhosis | |
Show
|
| HP:0001395 | Hepatic fibrosis | |
Show
|
| HP:0001402 | Hepatocellular carcinoma | |
Show
|
| HP:0001409 | Portal hypertension | |
Show
|
| HP:0001433 | Hepatosplenomegaly | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001541 | Ascites | |
Show
|
| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
Show
|
| HP:0001733 | Pancreatitis | |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
Show
|
| HP:0001786 | Slender feet | |
Show
|
| HP:0001824 | Weight loss | |
Show
|
| HP:0001945 | Fever | |
Show
|
| HP:0002019 | Constipation | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002027 | Abdominal pain | |
Show
|
| HP:0002036 | Hiatus hernia | "A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn)." [HPO:curators] |
Show
|
| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
Show
|
| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0002202 | Pleural effusion | "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators] |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0002300 | Mutism | |
Show
|
| HP:0002311 | Incoordination | |
Show
|
| HP:0002342 | Mental retardation, moderate | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
Show
|
| HP:0002357 | Dysphasia | |
Show
|
| HP:0002381 | Aphasia | |
Show
|
| HP:0002459 | Dysautonomia | |
Show
|
| HP:0002472 | Small cerebral cortex | |
Show
|
| HP:0002558 | Supernumerary nipples | |
Show
|
| HP:0002608 | Celiac disease | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002883 | Hyperventilation | |
Show
|
| 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] |
Show
|
| HP:0002960 | Autoimmune disease | |
Show
|
| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
Show
|
| HP:0003459 | Polyclonal elevation of IgM | |
Show
|
| HP:0003700 | Generalized amyotrophy | "Generalized wasting of loss of muscle tissue." [HPO:curators] |
Show
|
| HP:0004879 | intermittent hyperventilation | |
Show
|
| HP:0004905 | Vitamin A deficiency | |
Show
|
| HP:0006352 | Failure of secondary teeth eruption | |
Show
|
| HP:0006554 | Acute hepatic failure | "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] |
Show
|
| HP:0006887 | Mental retardation, progressive | "Mental retardation is defined as a decreased intelligence quotient of varying degree. The term progressive mental retardation should be used if intelligence decreases/deteriorates over time." [HPO:curators] |
Show
|
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0008081 | Valgus foot deformity | |
Show
|
| HP:0008151 | Prolonged prothrombin and partial thromboplastin times | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
Show
|
| HP:0010535 | Sleep apnea | "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] |
Show
|
| HP:0010638 | Elevated alkaline phosphatase of hepatic origin | "An abnormally increased level of liver isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] |
Show
|
| HP:0010743 | Hypoplasia of the metatarsal bones | |
Show
|
| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Show
|
| HP:0011300 | Broad fingertip | "Increased width of the distal segment of a finger." [pmid:19125433] |
Show
|
| HP:0011833 | Overhanging nasal tip | "Positioning of the nasal tip inferior to the nasal base." [pmid:19152422] |
Show
|
| HP:0011892 | Vitamin K deficiency | |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
Show
|
| HP:0012189 | Hodgkin s lymphoma | "A typer of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells." [HPO:probinson] |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
| HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
Show
|
| HP:0012522 | Spider hemangioma | "A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released." [HPO:probinson, pmid:22356347] |
Show
|
| HP:0012700 | Abnormal large intestine physiology | "A functional anomaly of the large intestine." [HPO:probinson] |
Show
|
| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
Show
|
| HP:0030153 | Cholangiocarcinoma | "Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension." [HPO:probinson, pmid:18536057, pmid:8268770] |
Show
|
| HP:0030168 | Dilated superficial abdominal veins | "Increase in diameter of the veins located underneath the skin of the abdomen." [pmid:5897968] |
Show
|
| HP:0040019 | Finger clinodactyly | |
Show
|
| HP:0040082 | Happy demeanor | |
Show
|
| HP:0040275 | Adenocarcinoma of the large intestine | "A malignant epithelial tumor with a glandular organization that originates in the large intestine." [] |
Show
|
| HP:0100279 | Ulcerative colitis | "A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn s disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon." [HPO:sdoelken] |
Show
|
| HP:0100512 | Vitamin D deficiency | |
Show
|
| HP:0100513 | Vitamin E deficiency | |
Show
|
| HP:0100575 | Neoplasm of the gallbladder | "The presence of a `neoplasm` (MPATH:218) of the `gallbladder` (FMA:7202)." [HPO:probinson] |
Show
|
| HP:0100626 | Chronic hepatic failure | |
Show
|
| HP:0100633 | Esophagitis | |
Show
|
| HP:0100646 | Thyroiditis | "`Inflammation` (MPATH:212) of the `thyroid gland` (FMA:9603)." [HPO:probinson] |
Show
|
| HP:0100651 | Diabetes mellitus Type I | |
Show
|
| HP:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
Show
|
| HP:0100869 | Palmar telangiectasia | "The presence of telangiectases on the `skin of palm of hand` (FMA:38301)." [HPO:probinson] |
Show
|
| HP:0200055 | Small hands | |
Show
|
