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Disease Ontology Browser
spondylometaphyseal dysplasia with cone-rod dystrophy (DOID:0112300)
Alliance: disease page
Synonyms: SMD-CRD; SMDCRD; spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Alt IDs: OMIM:608940, MESH:C563825, ORDO:85167, UMLS_CUI:C1837073
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory