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molybdenum cofactor deficiency type C

Go to external page http://purl.obolibrary.org/obo/DOID_0111166

A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. [ url:https://www.ncbi.nlm.nih.gov/pubmed/11095995 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: MOCODC MOCOD type C combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C molybdenum cofactor deficiency complementation group C

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:615501
  • SNOMEDCT_US_2023_03_01:1003387003
  • ORDO:308400
  • UMLS_CUI:C1854990
  • MESH:C565374
Subsets

DO_rare_slim

acronym
MOCODC

has obo namespace

disease_ontology

id

DOID:0111166