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Joubert syndrome with Jeune asphyxiating thoracic dystrophy

^ http://purl.obolibrary.org/obo/MONDO_0018342

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. [ Orphanet:397715 ]

Term info

database cross reference
  • Orphanet:397715 (MONDO:equivalentTo)
  • SCTID:733418003 (MONDO:equivalentTo)
  • UMLS:CN225944 (MONDO:equivalentTo)
  • UMLS:C4518774 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN225944, http://identifiers.org/snomedct/733418003, http://purl.obolibrary.org/obo/Orphanet_397715, http://linkedlifedata.com/resource/umls/id/C4518774

has exact synonym

JBTS with JATD, Joubert syndrome with JATD

id

MONDO:0018342