arthrogryposis-hyperkeratosis syndrome, lethal form
http://purl.obolibrary.org/obo/MONDO_0008826
Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. [ Orphanet:1485 ]
Term info
- SCTID:726620005 (MONDO:equivalentTo)
- OMIM:208158 (Orphanet:1485/e)
- UMLS:C1859710 (Orphanet:1485)
- MESH:C535883 (MONDO:equivalentTo)
- GARD:0003053 (MONDO:equivalentTo)
- Orphanet:1485 (OMIM:208158)
ordo_malformation_syndrome
Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.
http://purl.obolibrary.org/obo/Orphanet_1485, http://linkedlifedata.com/resource/umls/id/C1859710, http://identifiers.org/snomedct/726620005, http://identifiers.org/mesh/C535883, https://omim.org/entry/208158
Johnston-Aarons-Schelley syndrome
Johnston Aarons Schelley syndrome, arthrogryposis with hyperkeratosis, Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns
MONDO:0008826