Disease: Ehlers-Danlos Syndrome, Musculocontractural Type, 1

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CHST14 (Withdrawn symbols: D4ST-1, D4ST1, HD4ST )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Chst14 (Withdrawn symbols: 2600016L03Rik, D4st1 )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)

Mouse Models

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