Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
spondylometaphyseal dysplasia with cone-rod dystrophy
Summary
- Synonym
-
- 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 the PCYT1A gene on chromosome 3q29.
- Super Class
- autosomal recessive disease spondylometaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112300
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0008905 | Rhizomelia |
| HP:0000639 | Nystagmus |
| HP:0003510 | Severe short stature |
| HP:0000548 | Cone/cone-rod dystrophy |
| HP:0007401 | Macular atrophy |
| HP:0001105 | Retinal atrophy |
| HP:0010583 | Ivory epiphyses |
| HP:0003025 | Metaphyseal irregularity |
| HP:0000505 | Visual impairment |
