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otospondylomegaepiphyseal dysplasia, autosomal dominant

^ http://purl.obolibrary.org/obo/MONDO_0008490

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. [ Orphanet:166100 ]

Term info

database cross reference
  • MESH:C537494 (Orphanet:166100/e)
  • GARD:0005021 (MONDO:equivalentObsolete)
  • SCTID:699313003 (MONDO:equivalentTo)
  • MESH:C535776 (MONDO:equivalentTo)
  • Orphanet:3450 (OMIM:277610)
  • Orphanet:166100 (OMIM:184840)
  • SCTID:4602007 (MONDO:relatedTo)
  • DOID:0080677 (MONDO:equivalentTo)
  • OMIM:184840 (Orphanet:166100/e)
  • DOID:4258 (MONDO:equivalentTo)
  • OMIM:277610 (Orphanet:3450/e)
  • GARD:0004351 (MONDO:equivalentObsolete)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
OSMEDA [ OMIM:184840 ]

abbreviation
WZS [ OMIM:277610 MONDO:Lexical ]

abbreviation
STL3 [ MONDO:Lexical OMIM:184840 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

definition

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_166100, http://identifiers.org/snomedct/699313003, http://identifiers.org/mesh/C535776, http://purl.obolibrary.org/obo/DOID_0080677, https://omim.org/entry/184840, http://purl.obolibrary.org/obo/DOID_4258, http://identifiers.org/mesh/C537494, http://purl.obolibrary.org/obo/Orphanet_3450

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019354

has exact synonym

Pierre Robin syndrome-fetal chondrodysplasia syndrome, COL11A2 Stickler syndrome, Stickler syndrome caused by mutation in COL11A2, otospondylomegaepiphyseal dysplasia, autosomal dominant, Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly, Piere-Robin syndrome, heterozygous OSMED, Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, Pierre Robin syndrome with fetal chondrodysplasia, Weissenbacher-Zweymuller syndrome, Stickler syndrome, type III, formerly, OSMED, heterozygous, STL3, Stickler syndrome, type 3, WZS, Stickler syndrome, non-ocular type, Pierre Robin sequence-fetal chondrodysplasia syndrome, heterozygous otospondylomegaepiphyseal dysplasia, STICKLER syndrome, type III, Pierre Robin malformation, OSMEDA

has related synonym

Weissenbacher-Zweymüller syndrome, Stickler syndrome, Nonocular type, Stickler syndrome nonocular type, Weissenbacher- Zweymuller syndrome

id

MONDO:0008490