Otospondylomegaepiphyseal Dysplasia(Spondylo-megaepiphyseal-metaphyseal dysplasia) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | COL11A2/1302 | collagen type XI alpha 2 chain | 6p21.32 | Chr6, NC_000006.12 (33162694..33193137, complement) |
30444 nt | 70 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | COL2A1/1280 | collagen type II alpha 1 chain | 12q13.11-q13.2 | Chr12, NC_000012.12 (47972967..48006212, complement) |
33246 nt | 57 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |