Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	FERROCHELATASE
Synonyms	HEME SYNTHETASE HEME SYNTHASE IRON CHELATASE FECH PROTOPORPHYRIA, ERYTHROPOIETIC, 1
ID	http://purl.bioontology.org/ontology/OMIM/612386
altLabel	HEME SYNTHETASE HEME SYNTHASE IRON CHELATASE FECH PROTOPORPHYRIA, ERYTHROPOIETIC, 1
cui	C4692546 C1414580
Gene Locus	18q21.3
Gene Symbol	EPP1 FCE FECH
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/612386.0016 http://purl.bioontology.org/ontology/OMIM/612386.0010 http://purl.bioontology.org/ontology/OMIM/612386.0011 http://purl.bioontology.org/ontology/OMIM/612386.0012 http://purl.bioontology.org/ontology/OMIM/612386.0014 http://purl.bioontology.org/ontology/OMIM/612386.0013 http://purl.bioontology.org/ontology/OMIM/612386.0015 http://purl.bioontology.org/ontology/OMIM/612386.0001 http://purl.bioontology.org/ontology/OMIM/612386.0003 http://purl.bioontology.org/ontology/OMIM/612386.0004 http://purl.bioontology.org/ontology/OMIM/612386.0008 http://purl.bioontology.org/ontology/OMIM/612386.0009 http://purl.bioontology.org/ontology/OMIM/612386.0005 http://purl.bioontology.org/ontology/OMIM/612386.0006 http://purl.bioontology.org/ontology/OMIM/612386.0002 http://purl.bioontology.org/ontology/OMIM/612386.0007
MIMTYPEMEANING	Gene with known sequence
notation	612386
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	FERROCHELATASE
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP97931-7	LOINC	CUI
http://sbmi.uth.tmc.edu/ontology/ochv#C0015880	OCHV	LOOM
http://purl.obolibrary.org/obo/dinto_4278	DINTO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.520.500	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.556.579.374.375.617	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0006510	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005294	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906063004884408	IOBC	LOOM
http://purl.obolibrary.org/obo/MESH_D005294	BERO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00019987	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/PR_000022876	PR	LOOM
http://purl.obolibrary.org/obo/PR_000022876	NIFSTD	LOOM
http://purl.bioontology.org/ontology/CSP/4007-0044	CRISP	LOOM
http://www.orpha.net/ORDO/Orphanet_121784	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.575.562	RH-MESH	LOOM
http://purl.obolibrary.org/obo/dinto_3196	DINTO	LOOM
http://purl.bioontology.org/ontology/LNC/LP15569-4	LOINC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.157.427.374.375.957	RH-MESH	LOOM
http://purl.bioontology.org/ontology/SNMI/F-6C908	SNMI	LOOM
http://purl.bioontology.org/ontology/MESH/D005294	MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4975	OCHV	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/57960008	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU010746	LOINC	LOOM
http://purl.bioontology.org/ontology/RCD/X80L7	RCD	LOOM