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DOID:0060599 - Nance-Horan syndrome
Disease Ontology Definition:A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
Synonyms:
Xenbase Genes : nhs
MONDO:0010545 - Nance-Horan syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked monogenic disease (is_a),
syndrome (is_a)