Online Mendelian Inheritance in Man - LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620711 http://purl.bioontology.org/ontology/OMIM/620711
Preferred Name	LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
Synonyms	LENCEP
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LENCEP
prefLabel	LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
Gene Symbol	HMBS LENCEP PBGD ENCEP UPS
Scope Statement	Slowly progressive [MISCELLANEOUS] Variable manifestations [MISCELLANEOUS] Caused by mutation in the hydroxymethylbilane synthase gene (HMBS, 609806.0005) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Onset in first or second decade [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU043146 http://purl.bioontology.org/ontology/OMIM/MTHU036402 http://purl.bioontology.org/ontology/OMIM/MTHU078465 http://purl.bioontology.org/ontology/OMIM/MTHU034427 http://purl.bioontology.org/ontology/OMIM/MTHU051424 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU078471 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU002478 http://purl.bioontology.org/ontology/OMIM/MTHU078467 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU001236 http://purl.bioontology.org/ontology/OMIM/MTHU001673 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU078470 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036966 http://purl.bioontology.org/ontology/OMIM/MTHU078463 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU078464 http://purl.bioontology.org/ontology/OMIM/MTHU022723 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU078468 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047
Gene Locus	11q23.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620711
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5935575
OMIM Entry Type	3
OMIM MimType Value	pound

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