Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1
Synonyms

ABCD1
ID

http://purl.bioontology.org/ontology/OMIM/300371
altLabel

ABCD1

ADRENOMYELONEUROPATHY

ADDISON DISEASE

ADRENOLEUKODYSTROPHY

ALDP

ADRENOLEUKODYSTROPHY PROTEIN
cui

C0001403

C1527231

C1412084

C0162309
Gene Locus

Xq28
Gene Symbol

AMN

ALD

ABCD1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300371.0024

http://purl.bioontology.org/ontology/OMIM/300371.0026

http://purl.bioontology.org/ontology/OMIM/300371.0020

http://purl.bioontology.org/ontology/OMIM/300371.0025

http://purl.bioontology.org/ontology/OMIM/300371.0023

http://purl.bioontology.org/ontology/OMIM/300371.0021

http://purl.bioontology.org/ontology/OMIM/300371.0022

http://purl.bioontology.org/ontology/OMIM/300371.0019

http://purl.bioontology.org/ontology/OMIM/300371.0017

http://purl.bioontology.org/ontology/OMIM/300371.0012

http://purl.bioontology.org/ontology/OMIM/300371.0014

http://purl.bioontology.org/ontology/OMIM/300371.0010

http://purl.bioontology.org/ontology/OMIM/300371.0011

http://purl.bioontology.org/ontology/OMIM/300371.0013

http://purl.bioontology.org/ontology/OMIM/300371.0016

http://purl.bioontology.org/ontology/OMIM/300371.0018

http://purl.bioontology.org/ontology/OMIM/300371.0015

http://purl.bioontology.org/ontology/OMIM/300371.0001

http://purl.bioontology.org/ontology/OMIM/300371.0003

http://purl.bioontology.org/ontology/OMIM/300371.0008

http://purl.bioontology.org/ontology/OMIM/300371.0006

http://purl.bioontology.org/ontology/OMIM/300371.0005

http://purl.bioontology.org/ontology/OMIM/300371.0007

http://purl.bioontology.org/ontology/OMIM/300371.0004

http://purl.bioontology.org/ontology/OMIM/300371.0002

http://purl.bioontology.org/ontology/OMIM/300371.0009
MIMTYPEMEANING

Gene with known sequence
notation

300371
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10088201 MDRGER CUI
http://purl.bioontology.org/ontology/LNC/LP71403-7 LOINC CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.52 ICD10CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000305 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10036696 MDRFRE CUI
http://purl.bioontology.org/ontology/WHO/0410 WHO-ART CUI
http://purl.bioontology.org/ontology/MESH/D000224 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10001130 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/C154. RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/373662000 SCTSPA CUI
http://purl.bioontology.org/ontology/ICPC2P/T99002 ICPC2P CUI
http://purl.bioontology.org/ontology/RCD/C1541 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/373662000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10036696 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10013096 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DB-70620 SNMI CUI
http://purl.bioontology.org/ontology/LNC/LA15307-4 LOINC CUI
http://purl.bioontology.org/ontology/MSHFRE/D000224 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10052381 MDRGER CUI
http://purl.bioontology.org/ontology/WHOFRE/0410 WHOFRE CUI
http://purl.bioontology.org/ontology/ICD10/E27.1 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10085976 MDRGER CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001403 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/CST/ADREN%20INSUFFIC COSTART CUI
http://purl.bioontology.org/ontology/MDRFRE/10052381 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10001130 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10013096 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10013096 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10036696 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/0060-3321 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10052381 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/363732003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10085976 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/E27.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10085976 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10001130 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/363732003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1269423000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.522 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/D000326 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10088201 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/65389002 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D000326 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10088201 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DB-70660 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10051260 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162309 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10051260 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X40Wn RCD CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000753684 PDQ CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000330 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.529 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/65389002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10051260 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D000326 MESH CUI
http://purl.bioontology.org/ontology/LNC/MTHU055485 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/65389002 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D000326 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/4001-0003 CRISP CUI
http://purl.bioontology.org/ontology/LNC/LP242687-4 LOINC CUI
http://purl.bioontology.org/ontology/LNC/LA25796-6 LOINC CUI
http://purl.bioontology.org/ontology/SNMI/DB-70660 SNMI CUI
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.obolibrary.org/obo/NCIT_C142195 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_117677 ORDO LOOM