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| Term | spondylometaphyseal dysplasia with cone-rod dystrophy | ID (Ontology) | DOID:0112300 (Human Disease) |
| Definition | A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. | ||
| Also Known As | "SMD-CRD" ; "SMDCRD" ; "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease____ osteochondrodysplasia | |__spondylometaphyseal dysplasia__| spondylometaphyseal dysplasia with cone-rod dystrophy 2 rec. |
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autosomal recessive disease spondylometaphyseal dysplasia |
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GARD:10647 MESH:C563825 MIM:608940 ORDO:85167 UMLS_CUI:C1837073 |
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