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Jeune syndrome

Go to external page 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 ]

Synonyms: Asphyxiating Thoracic Dystrophy 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

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:474 (MONDO:equivalentTo)
  • NCIT:C84794 (MONDO:equivalentTo)
  • NORD:1074 (MONDO:NORD)
  • OMIMPS:208500 (MONDO:equivalentTo)
  • GARD:3049 (MONDO:GARD)
  • MEDGEN:78548 (MONDO:equivalentTo)
  • MESH:C537571 (Orphanet:474/e)
  • MedDRA:10057621 (Orphanet:474/e)
  • SCTID:75049004 (MONDO:equivalentTo)
  • DOID:0050592 (MONDO:equivalentTo)
  • UMLS:C0265275 (MONDO:equivalentTo)
  • icd11.foundation:554018956 (https://orcid.org/0000-0002-4142-7153)
Subsets

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

closeMatch

http://identifiers.org/meddra/10057621

exactMatch

http://identifiers.org/snomedct/75049004

http://identifiers.org/medgen/78548

https://omim.org/phenotypicSeries/PS208500

http://identifiers.org/mesh/C537571

http://purl.obolibrary.org/obo/NCIT_C84794

http://www.orpha.net/ORDO/Orphanet_474

http://linkedlifedata.com/resource/umls/id/C0265275

http://purl.obolibrary.org/obo/DOID_0050592

has related synonym

ATD

infantile thoracic dystrophy

Chondroectodermal dysplasia-like syndrome

asphyxiating thoracic dystrophy

Jeune's syndrome

id

MONDO:0018770