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Jeune syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018770

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. [ Orphanet:474 ]

Term info

database cross reference
  • UMLS:C0265275 (Orphanet:474/e)
  • SCTID:75049004 (MONDO:equivalentTo)
  • Orphanet:474 (MONDO:equivalentTo)
  • MESH:C537571 (Orphanet:474/e)
  • MedDRA:10057621 (Orphanet:474/e)
  • GARD:0003049 (MONDO:equivalentTo)
  • NCIT:C84794 (MONDO:equivalentTo)
  • OMIMPS:208500 (MONDO:equivalentTo)
  • DOID:0050592 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
ATD [ GARD:0003049 ]

abbreviation
JATD [ Orphanet:474 ]

closeMatch

http://identifiers.org/meddra/10057621

definition

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

exactMatch

http://identifiers.org/snomedct/75049004, http://purl.obolibrary.org/obo/Orphanet_474, https://omim.org/phenotypicSeries/PS208500, http://identifiers.org/mesh/C537571, http://purl.obolibrary.org/obo/NCIT_C84794, http://linkedlifedata.com/resource/umls/id/C0265275, http://purl.obolibrary.org/obo/DOID_0050592

has exact synonym

short-rib thoracic dysplasia with or without polydactyly, JATD, Jeune asphyxiating thoracic dystrophy, asphyxiating thoracic dystrophy of the newborn, thoracic pelvic phalangeal dystrophy, short-rib thoracic dysplasia, Jeune syndrome

has related synonym

ATD, infantile thoracic dystrophy, Chondroectodermal dysplasia-like syndrome, Jeune's syndrome, asphyxiating thoracic dystrophy

id

MONDO:0018770