Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Preferred Name	ATP binding cassette subfamily D member 1
Synonyms	AMN adrenoleukodystrophy ALDP
ID	http://www.orpha.net/ORDO/Orphanet_117677
alternative_term	AMN adrenoleukodystrophy ALDP
hasDbXref	ClinVar:ABCD1 Genatlas:ABCD1 SwissProt:P33897 Ensembl:ENSG00000101986 OMIM:300371 Reactome:P33897 HGNC:61 IUPHAR:788
label	ATP binding cassette subfamily D member 1
prefixIRI	ORDO:Orphanet_117677
prefLabel	ATP binding cassette subfamily D member 1
symbol	ABCD1
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000003565	PR	LOOM
http://purl.obolibrary.org/obo/PR_000003565	NIFSTD	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142195	NCIT	LOOM
http://purl.bioontology.org/ontology/OMIM/300371	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C142195	BERO	LOOM