| 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:0000013 | Hypoplastic uterus | |
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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:0000037 | Male pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] |
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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:0000055 | Abnormality of female external genitalia | |
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| HP:0000133 | Gonadal dysgenesis | |
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| HP:0000142 | Abnormality of the vagina | |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000150 | Gonadoblastoma | |
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| HP:0000786 | Primary amenorrhea | |
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| HP:0000789 | Infertility | |
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| HP:0000837 | Elevated gonadotropins | |
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| HP:0001271 | Polyneuropathy | "A generalized disorder of peripheral nerves." [HPO:curators] |
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| HP:0001315 | Reduced reflexes | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001761 | Pes cavus | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0003130 | Abnormal myelination in sural nerve biopsies | |
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| HP:0003134 | Abnormal motor and sensory nerve conduction | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003376 | Steppage gait | "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators] |
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| HP:0003380 | Decreased number of myelinated fibers | "A loss of myelinated nerve fibers (in general, this finding can be observed on nerve biopsy)." [HPO:curators] |
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| HP:0003434 | Sensory ataxic neuropathy | |
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| HP:0006984 | Distal sensory loss of all modalities | |
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| HP:0007141 | Sensorimotor neuropathy | |
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| HP:0008214 | Decreased serum estradiol | |
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| HP:0008668 | 46,xy gonadal dysgenesis | |
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| HP:0008697 | Rudimentary fallopian tubes | |
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| HP:0008715 | Testicular dysgenesis | |
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| HP:0008723 | Xy female gonadal dysgenesis | |
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| HP:0009714 | Abnormality of the epididymis | "Lesion of the epididymis (the structure that connects efferent ductules to vas deferens)." [HPO:curators] |
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| HP:0010464 | Streak ovary | "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequenty mesonephric or hilar cells." [HPO:curators] |
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| HP:0012245 | Sex reversal | "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] |
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| HP:0040171 | Decreased serum testosterone level | |
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