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hereditary methemoglobinemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0018963

Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. [ NCIT:C98898 ]

Synonyms: hereditary methemoglobinemia autosomal recessive methemoglobinemia congenital methemoglobinemia

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:267550008 (MONDO:equivalentTo)
  • icd11.foundation:586921197 (https://orcid.org/0000-0002-4142-7153)
  • Orphanet:621 (MONDO:equivalentTo)
  • GARD:2659 (MONDO:GARD)
  • UMLS:C0272087 (MONDO:equivalentTo)
  • MESH:C580280 (MONDO:equivalentTo)
  • NCIT:C98898 (MONDO:equivalentTo)
  • MEDGEN:473013 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_621

http://identifiers.org/mesh/C580280

http://purl.obolibrary.org/obo/NCIT_C98898

http://identifiers.org/snomedct/267550008

http://identifiers.org/medgen/473013

http://linkedlifedata.com/resource/umls/id/C0272087

id

MONDO:0018963