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Summary Literature (0)
DOID:9249 - Beemer-Langer syndrome

Disease Ontology Definition:A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.

Synonyms: type IV short rib polydactyly syndrome, type IV short rib polydactyly syndrome (disorder)

Xenbase Genes : ift80

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010024 - Beemer-Langer syndrome

MIM:
MIM:269860 - SHORT-RIB THORACIC DYSPLASIA 12; SRTD12

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)