| 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:0000147 | polycystic ovaries | |
Show
|
| HP:0000271 | Abnormality of the face | |
Show
|
| HP:0000464 | Abnormality of the neck | |
Show
|
| HP:0000786 | Primary amenorrhea | |
Show
|
| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
Show
|
| HP:0000831 | Insulin-resistant diabetes mellitus | |
Show
|
| HP:0000842 | Hyperinsulinemia | |
Show
|
| HP:0000855 | Insulin resistance | |
Show
|
| HP:0000876 | Oligomenorrhea | |
Show
|
| HP:0000956 | Acanthosis nigricans | |
Show
|
| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
Show
|
| HP:0001015 | Prominent superficial veins | |
Show
|
| HP:0001394 | Cirrhosis | |
Show
|
| HP:0001397 | Hepatic steatosis | |
Show
|
| HP:0002149 | Hyperuricemia | "An abnormally high level of uric acid in the blood." [HPO:curators] |
Show
|
| HP:0002155 | Hypertriglyceridemia | |
Show
|
| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
Show
|
| HP:0003074 | Hyperglycemia | |
Show
|
| HP:0003233 | Decreased HDL cholesterol | |
Show
|
| HP:0003584 | Late onset | |
Show
|
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
Show
|
| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators] |
Show
|
| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
Show
|
| HP:0009017 | Loss of subcutaneous adipose tissue from gluteal region | |
Show
|
| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
Show
|
| HP:0009800 | maternal diabetes | "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [HPO:curators] |
Show
|
| HP:0100602 | Preecplampsia | "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] |
Show
|
