| 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:0000421 | Epistaxis | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001882 | Leukopenia | |
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| HP:0001903 | Anemia | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0002823 | Abnormality of the femur | "Abnormality of the femur (i.e., the thigh bone)." [HPO:curators] |
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| HP:0002992 | Abnormality of the tibia | "Abnormality of the tibia (shinbone)." [HPO:curators] |
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| HP:0003010 | Prolonged bleeding time | |
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| HP:0003103 | Abnormality of cortical bone | "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004493 | Craniofacial hyperostosis | "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] |
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| HP:0005019 | Diaphyseal thickening | |
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| HP:0005505 | Refractory anemia | |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0005890 | Hyperostosis cranialis interna | "Bony overgrowth of the internal surface of the cranial base." [HPO:curators] |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0010978 | Abnormality of immune system physiology | "A functional abnormality of the `immune system` (FMA:9825)." [HPO:probinson, MP:0001790] |
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| HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
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| HP:0011974 | Myelofibrosis | "Replacement of bone marrow by fibrous tissue." [HPO:probinson] |
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| HP:0100252 | Diaphyseal dysplasia | |
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