| 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:0000083 | Renal failure | |
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| HP:0000093 | Proteinuria | |
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| HP:0000097 | Focal segmental glomerulosclerosis | |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0000414 | Bulbous nose | |
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| HP:0000470 | Short neck | |
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| HP:0000483 | Astigmatism | |
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| HP:0000545 | Myopia | |
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| HP:0000691 | Microdontia | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000926 | Platyspondyly | |
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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:0000995 | Pigmented nevi | "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators] |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001270 | Motor retardation | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001538 | Protuberant abdomen | "A thrusting or bulging out of the abdomen." [HPO:curators] |
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| HP:0001620 | High pitched voice | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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| HP:0001888 | Lymphopenia | |
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| HP:0001903 | Anemia | |
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| HP:0002208 | Coarse hair | |
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| HP:0002213 | Fine hair | |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002515 | Waddling gait | |
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| HP:0002634 | Arteriosclerosis | |
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| HP:0002655 | Spondyloepiphyseal dysplasia | |
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| HP:0002719 | Recurrent infections | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002843 | Abnormality of T-cells | "An abnormality of B cells, which are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity." [HPO:curators] |
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| HP:0002925 | Increased serum thyroid-stimulating hormone (TSH) | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002942 | Thoracic kyphosis | |
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| HP:0003090 | Small capital femoral epiphyses | |
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| HP:0003182 | Shallow acetabular fossae | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005374 | Cellular immunodeficiency | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006453 | Laterally displaced femoral heads | |
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| HP:0007565 | Multiple cafe-au-lait spots | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0010701 | Abnormal immunoglobulin level | "An abnormal deviation from normal levels of immunoglobulins in blood." [HPO:probinson] |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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