| 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:0000027 | Azoospermia | |
Show
|
| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
Show
|
| HP:0000821 | Hypothyroidism | |
Show
|
| HP:0000846 | Adrenal insufficiency | |
Show
|
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
Show
|
| HP:0000957 | Cafe-au-lait spots | |
Show
|
| HP:0000980 | Pallor | |
Show
|
| HP:0001433 | Hepatosplenomegaly | |
Show
|
| HP:0001510 | Growth retardation | |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001896 | Reticulocytopenia | |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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:0003281 | Increased serum ferritin | |
Show
|
| HP:0003452 | Increased serum iron | |
Show
|
| HP:0004823 | anisopoikilocytosis | |
Show
|
| HP:0012134 | Dysplastic erythropoesis | |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
| HP:0012464 | Decreased transferrin saturation | "A below normal level of saturation of serum transferrin with iron." [HPO:probinson] |
Show
|
| HP:0012465 | Elevated hepatic iron concentration | "An increased level of iron in liver tissues." [HPO:probinson, pmid:10922422, pmid:14668426] |
Show
|
| HP:0025066 | Decreased mean corpuscular volume | "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." [] |
Show
|
