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Summary Literature (0)
DOID:13481 - thanatophoric dysplasia

Disease Ontology Definition:An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.

Synonyms:

Xenbase Genes : fgfr3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0017042 - thanatophoric dysplasia

MIM:
MIM:187600 - THANATOPHORIC DYSPLASIA, TYPE I; TD1
MIM:187601 - THANATOPHORIC DYSPLASIA, TYPE II; TD2
MIM:273680 - THANATOPHORIC DYSPLASIA, GLASGOW VARIANT

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

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