tricho-retino-dento-digital syndrome
http://purl.obolibrary.org/obo/MONDO_0008622
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. [ Orphanet:1264 ]
Term info
- MESH:C536576 (MONDO:equivalentTo)
- GARD:0000938 (MONDO:equivalentTo)
- UMLS:C1860605 (Orphanet:1264)
- SCTID:719910004 (MONDO:equivalentTo)
- OMIM:191482 (Orphanet:1264/e)
- Orphanet:1264 (OMIM:191482)
ordo_malformation_syndrome
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
http://identifiers.org/snomedct/719910004, http://linkedlifedata.com/resource/umls/id/C1860605, https://omim.org/entry/191482, http://identifiers.org/mesh/C536576, http://purl.obolibrary.org/obo/Orphanet_1264
Bork syndrome, uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome
Bork Stender Schmidt syndrome, uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
MONDO:0008622