Metachondromatosis Explore Disorder's Alias
An Autosomal dominant mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant 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 | PTPN11/5781 | protein tyrosine phosphatase non-receptor type 11 | 12q24.13 | Chr12, NC_000012.12 (112418947..112509918) |
90972 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |