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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:0017042 - thanatophoric dysplasia |
| 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, Ontobee
Parent(s):
osteochondrodysplasia (is_a)