| 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:0000823 | Delayed puberty | |
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| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| HP:0000842 | Hyperinsulinemia | |
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| HP:0000846 | Adrenal insufficiency | |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0001010 | Hypopigmentation of the skin | |
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| HP:0001396 | Cholestasis | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0002173 | Seizures, hypoglycemic | |
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| HP:0002297 | Red hair | |
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| HP:0002591 | Polyphagia | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0008213 | Pituitary gonadotropin deficiency | |
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| HP:0008245 | Tsh deficient hypothyroidism | |
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| HP:0008915 | Truncal obesity apparent in childhood | |
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| HP:0009126 | Increased adipose tissue | "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [HPO:curators] |
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| HP:0011734 | Central adrenal insufficiency | "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [DDD:spark] |
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| HP:0011748 | Adrenocorticotropic hormone deficiency | "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark] |
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