Desbuquois Dysplasia 1
| Disease Aliases (13) | Cant1 desbuquois dysplasia Dbqd Dbqd1 Desbuquois dysplasia 1, kim variant Desbuquois dysplasia, kim variant Desbuquois syndrome Desbuquois dysplasia 1; dbqd1 Desbuquois dysplasia caused by mutation in cant1 Desbuquois dysplasia type 1 Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification |
Associated Genes (2) NCBI-RefSeq: CANT1 (Calcium activated nucleotidase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: XYLT1 (Xylosyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Desbuquois dysplasia 1 | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |