Nance-Horan syndrome

Summary

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 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

: nhs

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010545 - metatarsus skeleton

MONDO:0010545 - metatarsus skeleton

MIM:

MIM:302350 - NANCE-HORAN SYNDROME; NHS

MIM:302350 - NANCE-HORAN SYNDROME; NHS

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

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

Parent(s): syndrome (is_a), X-linked dominant disease (is_a), X-linked monogenic disease (is_a)