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otospondylomegaepiphyseal dysplasia, autosomal dominant

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:184840 (Orphanet:166100/e)
  • UMLS:C1848488 (MONDO:equivalentTo)
  • Orphanet:166100 (OMIM:184840)
  • GARD:5021 (MONDO:GARD)
  • MESH:C535776 (MONDO:equivalentTo)
  • MEDGEN:341234 (MONDO:equivalentTo)
  • DOID:0080677 (MONDO:equivalentTo)
  • SCTID:699313003 (MONDO:equivalentTo)
  • OMIM:277610 (Orphanet:3450/e)
  • SCTID:4602007 (MONDO:relatedTo)
  • MESH:C537494 (Orphanet:166100/e)
  • Orphanet:3450 (OMIM:277610)
  • NORD:1533 (MONDO:NORD)
  • DOID:4258 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

UK spelling synonym
Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly

UK spelling synonym
Pierre Robin syndrome with foetal chondrodysplasia

UK spelling synonym
Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type

exactMatch

http://linkedlifedata.com/resource/umls/id/C1848488

http://identifiers.org/mesh/C535776

http://identifiers.org/snomedct/699313003

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://identifiers.org/medgen/341234

http://www.orpha.net/ORDO/Orphanet_166100

excluded subClassOf

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

has related synonym

Weissenbacher-Zweymüller syndrome

Stickler syndrome, Nonocular type

Stickler syndrome nonocular type

Weissenbacher- Zweymuller syndrome

id

MONDO:0008490

term tracker item

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