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Echinobase
Summary Literature (0)
DOID:0060599 - Nance-Horan syndrome

Disease Ontology Definition:An X-linked disease that has_material_basis_in mutation in the NHS gene on chromosome Xp22. It is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.

Synonyms:

Echinobase Genes :


OMIM:
MIM:302350 - nance-horan syndrome; nhs

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

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