Preferred Name |
Beemer-Langer syndrome |
|
Synonyms |
type IV short rib polydactyly syndrome |
|
Definitions |
A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. OMIM mapping confirmed by DO. [LS]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_9249 |
|
comment |
OMIM mapping confirmed by DO. [LS]. |
|
database_cross_reference |
UMLS_CUI:C0432198 SNOMEDCT_US_2023_03_01:254052001 MESH:C537599 OMIM:269860 |
|
definition |
A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. |
|
has exact synonym |
type IV short rib polydactyly syndrome |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:9249 |
|
label |
Beemer-Langer syndrome |
|
notation |
DOID:9249 |
|
prefLabel |
Beemer-Langer syndrome |
|
subClassOf |
Create mapping