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
otospondylomegaepiphyseal dysplasia, autosomal recessive
Summary
- Synonym
-
- CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
- NANCE-INSLEY SYNDROME
- NANCE-SWEENEY CHONDRODYSPLASIA
- OSMEDB
- Definition
- An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080026
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
