| 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:0000468 | Normal or increased adipose tissue around the neck | |
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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:0001397 | Hepatic steatosis | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0003119 | Abnormality of lipid metabolism | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003292 | Decreased serum leptin | |
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| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
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| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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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:0008994 | Proximal muscle weakness in lower limbs | "A lack of strength of the proximal muscles of the legs." [HPO:curators] |
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| HP:0008997 | Proximal muscle weakness in upper limbs | "A lack of strength of the proximal muscles of the arms." [HPO:curators] |
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| HP:0009017 | Loss of subcutaneous adipose tissue from gluteal region | |
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| HP:0009042 | Marked muscular hypertrophy | "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators] |
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| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0012743 | Abdominal obesity | "Excessive fat around the stomach and abdomen." [HPO:probinson] |
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| HP:0012881 | Abnormality of the labia majora | "An anomaly of the outer labia." [HPO:probinson] |
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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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