fumarase deficiency

Summary

fumarase deficiency is a developmental defect during embryogenesis^[1]. It ranks in the top 5% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (397 views/month).^[2]

Key Facts

• fumarase deficiency's instance of is recorded as developmental defect during embryogenesis^[3].
• fumarase deficiency's instance of is recorded as rare disease^[4].
• fumarase deficiency's instance of is recorded as class of disease^[5].
• fumarase deficiency's subclass of is recorded as metabolic disease^[6].
• fumarase deficiency's subclass of is recorded as neurometabolic disease^[7].
• fumarase deficiency's subclass of is recorded as mitochondrial disease with peripheral neuropathy^[8].
• fumarase deficiency's subclass of is recorded as mitochondrial disease with epilepsy^[9].
• fumarase deficiency's subclass of is recorded as tricarboxylic acid cycle disorder^[10].
• fumarase deficiency's subclass of is recorded as autosomal recessive disease^[11].
• fumarase deficiency's subclass of is recorded as amino acid metabolic disorder^[12].
• fumarase deficiency's MeSH descriptor ID is recorded as C538191^[13].
• fumarase deficiency's OMIM ID is recorded as 606812^[14].
• fumarase deficiency's DiseasesDB is recorded as 29835^[15].
• fumarase deficiency's Freebase ID is recorded as /m/0c95kh^[16].
• fumarase deficiency's KEGG ID is recorded as H02004^[17].
• fumarase deficiency's Disease Ontology ID is recorded as DOID:0111261^[18].
• fumarase deficiency's Orphanet ID is recorded as 24^[19].
• fumarase deficiency's ICD-9-CM is recorded as 282.3^[20].
• fumarase deficiency's genetic association is recorded as FH^[21].
• fumarase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111261^[22].
• fumarase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111261^[23].
• fumarase deficiency's UMLS CUI is recorded as C0342770^[24].
• fumarase deficiency's UMLS CUI is recorded as C2936826^[25].
• fumarase deficiency's ICD-10-CM is recorded as E88.8^[26].
• fumarase deficiency's GARD rare disease ID is recorded as 6476^[27].

Why It Matters

fumarase deficiency ranks in the top 5% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (397 views/month).^[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.^[28] It is known by 6 alternative names across languages and contexts.^[29]