| 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:0000119 | Genitourinary abnormality | "The presence of any abnormality of the genitourinary system." [HPO:curators] |
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| HP:0000133 | Gonadal dysgenesis | |
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| HP:0000144 | Decreased fertility | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000786 | Primary amenorrhea | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000837 | Elevated gonadotropins | |
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| HP:0000869 | Secondary amenorrhea | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001541 | Ascites | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002018 | Nausea | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002202 | Pleural effusion | "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators] |
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| HP:0002206 | Pulmonary fibrosis | |
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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:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0005625 | Osteoporosis of vertebrae | "Osteoporosis affecting predominantly the vertebrae." [HPO:curators] |
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| HP:0007430 | Generalized edema | "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:curators] |
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| HP:0008209 | Premature ovarian failure | |
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| HP:0008214 | Decreased serum estradiol | |
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| HP:0008675 | Enlarged polycystic ovaries | |
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| HP:0008684 | Absent/hypoplastic uterus | |
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| HP:0010311 | Aplasia/Hypoplasia of the breasts | "Absence or underdevelopment of the breasts." [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:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
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| HP:0012398 | Peripheral edema | "An abnormal accumulation of the accumulation of interstitial fluid in the soft tissues of the limbs." [HPO:probinson] |
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| HP:0012886 | Hemorrhagic ovarian cyst | "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst." [HPO:probinson, pmid:12928726] |
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| HP:0030005 | Capillary leak | "An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes." [] |
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| HP:0030088 | Increased testosterone | "An elevated circulating testosterone level in the blood." [] |
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| HP:0100598 | Pulmonary edema | "Fluid accumulation in the lungs." [HPO:sdoelken] |
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