OBO ID: DOID:0112300
Term Name: spondylometaphyseal dysplasia with cone-rod dystrophy Search Ontology:
Synonyms:
  • SMD-CRD
  • SMDCRD
  • spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
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 PCYT1A on chromosome 3q29. (2)
References:
Ontology: Human Disease   (DOID:0112300)
OTHER spondylometaphyseal dysplasia with cone-rod dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None