loading...| Preferred Name |
Jeune syndrome |
| Synonyms |
Jeune syndrome asphyxiating thoracic dystrophy of the newborn ATD short-rib thoracic dysplasia with or without polydactyly JATD thoracic pelvic phalangeal dystrophy infantile thoracic dystrophy Chondroectodermal dysplasia-like syndrome Jeune asphyxiating thoracic dystrophy asphyxiating thoracic dystrophy short-rib thoracic dysplasia Jeune's syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0018770 |
| closeMatch | |
| database_cross_reference |
DOID:0050592 OMIMPS:208500 NCIT:C84794 GARD:0003049 MESH:C537571 Orphanet:474 UMLS:C0265275 SCTID:75049004 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://linkedlifedata.com/resource/umls/id/C0265275 http://purl.obolibrary.org/obo/Orphanet_474 http://identifiers.org/mesh/C537571 http://purl.obolibrary.org/obo/NCIT_C84794 https://omim.org/phenotypicSeries/PS208500 |
| has_exact_synonym |
Jeune syndrome asphyxiating thoracic dystrophy of the newborn short-rib thoracic dysplasia with or without polydactyly JATD thoracic pelvic phalangeal dystrophy Jeune asphyxiating thoracic dystrophy short-rib thoracic dysplasia |
| has_related_synonym |
ATD infantile thoracic dystrophy Chondroectodermal dysplasia-like syndrome asphyxiating thoracic dystrophy Jeune's syndrome |
| id |
MONDO:0018770 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
Jeune syndrome |
| notation |
MONDO:0018770 |
| prefLabel |
Jeune syndrome |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0015962 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015962 |