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Metadata
DOID DOID:0060599
Name Nance-Horan syndrome
Definition A X-linked dominant disease 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.
https://en.wikipedia.org/wiki/Nance-Horan_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/2246772, https://www.ncbi.nlm.nih.gov/pubmed/6467651
Xrefs

GARD:7161

MESH:C538336

OMIM:302350

ORDO:627

UMLS_CUI:C0796085

Relationships

is_a X-linked dominant disease

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