Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Miura type epiphyseal chondrodysplasia
Summary
- Synonym
-
- ECDM
- tall stature-scoliosis-macrodactyly of the great toes syndrome
- tall stature-scoliosis-macrodactyly of the halluces syndrome
- Definition
- A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.
- Super Class
- autosomal dominant disease bone development disease
External Links
- Disease Ontology
- DOID:0070316
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
