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Metadata
ID	DOID:0060599
Name	Nance-Horan syndrome
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. 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 SNOMEDCT_US_2023_03_01:445257004 UMLS_CUI:C0796085
Subsets	DO_rare_slim
Parent Relationships	is_a syndrome is_a X-linked dominant disease