Name
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Synonmys
ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME ,
ADDUCTED THUMB-CLUBFOOT SYNDROME; ATCS ,
ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS ,
DUNDAR SYNDROME ,
EDSMC ,
EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY
Classification
cardiac malformation,
developmental,
genetic,
metabolism,
neurological,
renal,
skin,
systemic and rheumatological
Associated Genes
CHST14
(Withdrawn symbols:
D4ST-1,
D4ST1,
HD4ST
)
Mouse Orthologs
Chst14
(Withdrawn symbols:
2600016L03Rik,
D4st1
)
Source
OMIM:601776 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)