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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:spondylometaphyseal dysplasia with cone-rod dystrophy
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Accession:DOID:0112300 term browser browse the term
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. (DO)
Synonyms:exact_synonym: SMD-CRD;   SMDCRD;   spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
 primary_id: MESH:C563825
 alt_id: DOID:9005400;   OMIM:608940
 xref: GARD:10647;   ORDO:85167
For additional species annotation, visit the Alliance of Genome Resources.


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spondylometaphyseal dysplasia with cone-rod dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by OMIM:608940
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with cone-rod dystrophy
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
OMIM
ClinVar
PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 PMID:28492532 NCBI chr11:71,547,865...71,592,037
Ensembl chr11:71,548,222...71,591,502
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    sensory system disease 5580
      eye disease 2720
        Hereditary Eye Diseases 631
          retinitis pigmentosa 300
            spondylometaphyseal dysplasia with cone-rod dystrophy 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          eye disease 2720
            eye degenerative disease 507
              retinal degeneration 505
                fundus dystrophy 370
                  retinitis pigmentosa 300
                    spondylometaphyseal dysplasia with cone-rod dystrophy 1
paths to the root