acrofacial dysostosis, Catania type

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Summary

Literature (0)

DOID:0060384 - acrofacial dysostosis, Catania type

Disease Ontology Definition:An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.

Synonyms: Opitz Mollica Sorge syndrome, Opitz-Caltabiano syndrome

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): acrofacial dysostosis (is_a)