Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	hydroxymethylbilane synthase
Synonyms
ID	http://www.orpha.net/ORDO/Orphanet_122438
hasDbXref	OMIM:609806 ClinVar:HMBS Genatlas:HMBS Ensembl:ENSG00000256269 SwissProt:P08397 Reactome:P08397 HGNC:4982
label	hydroxymethylbilane synthase
prefixIRI	ORDO:Orphanet_122438
prefLabel	hydroxymethylbilane synthase
symbol	HMBS
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://id.nlm.nih.gov/mesh/D011163	MDM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.913.225.575	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020824	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011163	RH-MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/30690009	SNOMEDCT	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16205	HRDO	LOOM
http://purl.bioontology.org/ontology/OMIM/609806	OMIM	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9971	OCHV	LOOM
http://purl.obolibrary.org/obo/OMIT_0012129	OMIT	LOOM
http://purl.bioontology.org/ontology/MESH/D011163	MESH	LOOM
http://purl.obolibrary.org/obo/MESH_D011163	BERO	LOOM