| 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] |
Show
|
| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
Show
|
| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
Show
|
| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
Show
|
| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
Show
|
| HP:0000280 | Coarse facial features | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000445 | Broad nose | |
Show
|
| HP:0000503 | Tortuosity of conjunctival vessels | |
Show
|
| HP:0000574 | Thick eyebrows | |
Show
|
| HP:0000821 | Hypothyroidism | |
Show
|
| HP:0000914 | Shield chest | |
Show
|
| HP:0000943 | Dysostosis multiplex | |
Show
|
| HP:0000958 | Dry skin | |
Show
|
| HP:0000970 | Anhidrosis | "Inability to sweat." [HPO:curators] |
Show
|
| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
Show
|
| HP:0001014 | Angiokeratoma | |
Show
|
| HP:0001063 | Acrocyanosis | |
Show
|
| HP:0001249 | Mental retardation | |
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:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
Show
|
| HP:0001371 | Contractures | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001552 | Barrel-shaped chest | |
Show
|
| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
Show
|
| HP:0001640 | Cardiomegaly | |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001922 | Vacuolated lymphocytes | |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002059 | Cerebral atrophy | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0002938 | Lumbar hyperlordosis | |
Show
|
| HP:0003199 | Decreased muscle mass | |
Show
|
| HP:0004298 | Abnormality of the abdominal wall | "The presence of any abnormality affecting the abdominal wall." [HPO:curators] |
Show
|
| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|
| HP:0004558 | cervical platyspondyly | |
Show
|
| HP:0004630 | anterior beaking of thoracic and lumbar vertebrae | |
Show
|
| HP:0005264 | Abnormality of the gallbladder | |
Show
|
| HP:0005453 | Absent/hypoplastic paranasal sinuses | |
Show
|
| HP:0005595 | Hyperkeratosis, generalized | |
Show
|
| HP:0007256 | Mild pyramidal signs | |
Show
|
| HP:0007957 | Variable degree of corneal opacities | |
Show
|
| HP:0008155 | Acid mucopolysacchariduria | |
Show
|
| HP:0008430 | Mild anterior beaking of lumbar vertebrae | |
Show
|
| HP:0008436 | Absent/hypoplastic coccyx | |
Show
|
| HP:0010471 | Oligosacchariduria | "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins." [HPO:curators] |
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:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
Show
|
| HP:0011276 | Vascular skin abnormality | |
Show
|
| HP:0012236 | Elevated sweat chloride | "An increased concentration of chloride in the sweat." [HPO:probinson] |
Show
|
| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
Show
|
| HP:0100790 | Hernia | |
Show
|
