| 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] |
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| 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] |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000831 | Insulin-resistant diabetes mellitus | |
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| HP:0000855 | Insulin resistance | |
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| HP:0000876 | Oligomenorrhea | |
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| HP:0000956 | Acanthosis nigricans | |
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| 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] |
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| HP:0001325 | Hypoglycemic coma | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001520 | Large for gestational age | "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [HPO:curators] |
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| HP:0001528 | Hemihypertrophy | |
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| HP:0001956 | Truncal obesity | "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators] |
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| HP:0001958 | Nonketotic hypoglycemia | |
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| HP:0001985 | Hypoketotic hypoglycemia | |
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| HP:0001998 | Neonatal hypoglycemia | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002173 | Seizures, hypoglycemic | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0003292 | Decreased serum leptin | |
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| HP:0003584 | Late onset | |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0006568 | Increased liver glycogen content | |
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| HP:0008993 | Increased intraabdominal fat | "An abnormal increase in the amount of intraabdominal fat tissue." [HPO:curators] |
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| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0030685 | Decreased adiponectin level | "A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue." [HPO:probinson] |
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| HP:0030812 | Enlarged tonsils | "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat." [] {comment="HPO:probinson"} |
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| HP:0040215 | Abnormal circulating insulin level | "An abnormal concentration of insulin in the blood." [] |
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