| 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:0000083 | Renal failure | |
Show
|
| HP:0000122 | Unilateral renal agenesis | |
Show
|
| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
Show
|
| HP:0000717 | Autism | |
Show
|
| HP:0000958 | Dry skin | |
Show
|
| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
Show
|
| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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: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:0001339 | Lissencephaly | "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure." [HPO:curators] |
Show
|
| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
Show
|
| HP:0001939 | Metabolism abnormality | |
Show
|
| HP:0002167 | Neurological speech impairment | |
Show
|
| HP:0002357 | Dysphasia | |
Show
|
| HP:0002488 | Acute leukemia | |
Show
|
| HP:0002577 | Abnormality of the stomach | "An abnormality of the stomach, i.e., the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine." [HPO:curators] |
Show
|
| 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] |
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:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
Show
|
| HP:0007431 | Congenital ichthyosiform erythroderma | |
Show
|
| HP:0007759 | Corneal opacities, not impairing visual acuity | |
Show
|
| HP:0007957 | Variable degree of corneal opacities | |
Show
|
| HP:0008064 | Ichthyosiform abnormality of the skin | |
Show
|
| HP:0010866 | Abdominal wall defect | "An `incomplete closure` (PATO:0000609) of the `abdominal wall` (FMA:259054)." [HPO:probinson] |
Show
|
| HP:0100617 | Testicular seminoma | "The presence of a `seminoma` (MPATH:317), an undifferentiated germ cell tumor of the `testis` (FMA:7210)." [HPO:sdoelken] |
Show
|
