Disease Aliases (38) | Adducted thumb, clubfoot, and progressive joint and skin laxity syndrome Adducted thumb-clubfoot syndrome Arthrogryposis, distal, with peculiar facies and hydronephrosis Atcs Adducted thumb - clubfoot syndrome Adducted thumb clubfoot syndrome Adducted thumbs - arthrogryposis, dundar type Adducted thumbs dundar type Autosomal recessive adducted thumb-club foot syndrome Chst14-related eds Chst14-related ehlers-danlos syndrome D4st1-deficient eds D4st1-deficient ehlers-danlos syndrome Dundar syndrome Distal arthrogryposis with peculiar facies and hydronephrosis Dündar syndrome Eds, kosho type Eds, arthrogryposic type Eds, musculocontractural type Eds6b, formerly Edsmc Edsmc1 Ehlers-danlos syndrome, type vib, formerly Ehlers-danlos syndrome, kosho type Ehlers-danlos syndrome, arthrogryposic type Ehlers-danlos syndrome, musculocontractural type Ehlers-danlos syndrome, musculocontractural type 1 Ehlers-danlos syndrome, musculocontractural type 1; edsmc1 Ehlers-danlos syndrome, musculocontractural type, 1 Ehlers-danlos syndrome, musculocontractural type, 1; edsmc1 Ehlers-danlos syndrome, type vib Kosho type Mceds Musculocontractural eds Musculocontractural ehlers-danlos syndrome Adducted thumb-club foot syndrome Adducted thumbs-arthrogryposis syndrome, dundar type |
Associated Genes (2) NCBI-RefSeq: DSE (Dermatan sulfate epimerase) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: CHST14 (Carbohydrate sulfotransferase 14) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Ehlers-Danlos syndrome, musculocontractural type | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |