| 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:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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| HP:0000027 | Azoospermia | |
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| HP:0000029 | Testicular atrophy | |
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| HP:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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| HP:0000134 | Hypogonadism, female | "Lack of function of the female gonads (i.e. ovaries)." [HPO:curators] |
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| HP:0000786 | Primary amenorrhea | |
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| HP:0000789 | Infertility | |
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| HP:0000798 | Oligospermia | |
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| HP:0000876 | Oligomenorrhea | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002215 | Sparse axillary hair | |
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| HP:0002225 | Sparse pubic hair | |
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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:0003199 | Decreased muscle mass | |
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| HP:0008213 | Pituitary gonadotropin deficiency | |
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| HP:0008214 | Decreased serum estradiol | |
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| HP:0008230 | Decreased testosterone in males | |
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| HP:0008734 | Decreased testicular size | |
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| HP:0010791 | Hyperplasia of the Leydig cells | "Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson] |
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| HP:0012569 | Delayed menarche | "First period after the age of 15 years." [HPO:probinson] |
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| HP:0012814 | Bilateral breast hypoplasia | "Underdevelopment of the breast on both sides." [HPO:probinson] |
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| HP:0012864 | Abnormal sperm morphology | "A structural anomaly of sperm." [HPO:probinson] |
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| HP:0030018 | Decreased female libido | "Dminished sexual desire in female." [] |
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