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Nance-Horan syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060599

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. [ http://purl.obolibrary.org/obo/ECO_0007638 url:https://www.ncbi.nlm.nih.gov/pubmed/2246772 url:https://www.ncbi.nlm.nih.gov/pubmed/6467651 url:https://en.wikipedia.org/wiki/Nance-Horan_syndrome http://purl.obolibrary.org/obo/ECO_0007645 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C538336
  • UMLS_CUI:C0796085
  • SNOMEDCT_US_2023_03_01:445257004
  • MIM:302350
  • GARD:7161
  • ORDO:627
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0060599