Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

ADRENOLEUKODYSTROPHY
Synonyms

BRONZE SCHILDER DISEASE
ID

http://purl.bioontology.org/ontology/OMIM/300100
altLabel

BRONZE SCHILDER DISEASE

ADDISON DISEASE AND CEREBRAL SCLEROSIS

ADRENOMYELONEUROPATHY

MELANODERMIC LEUKODYSTROPHY

AMN

SIEMERLING-CREUTZFELDT DISEASE

ALD
cui

C1527231

C0162309
Gene Locus

Xq28
Gene Symbol

AMN

ALD

ABCD1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU005726

http://purl.bioontology.org/ontology/OMIM/MTHU031256

http://purl.bioontology.org/ontology/OMIM/MTHU042212

http://purl.bioontology.org/ontology/OMIM/MTHU008070

http://purl.bioontology.org/ontology/OMIM/MTHU042213

http://purl.bioontology.org/ontology/OMIM/MTHU001331

http://purl.bioontology.org/ontology/OMIM/MTHU008495

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU002764

http://purl.bioontology.org/ontology/OMIM/MTHU042214

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU042211

http://purl.bioontology.org/ontology/OMIM/MTHU005587

http://purl.bioontology.org/ontology/OMIM/MTHU004473

http://purl.bioontology.org/ontology/OMIM/MTHU003009

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU002910

http://purl.bioontology.org/ontology/OMIM/MTHU002521

http://purl.bioontology.org/ontology/OMIM/MTHU037951

http://purl.bioontology.org/ontology/OMIM/MTHU012235

http://purl.bioontology.org/ontology/OMIM/MTHU027729

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU018591
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

300100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ADRENOLEUKODYSTROPHY
Scope Statement

Caused by mutation in the ATP-binding cassette, subfamily D, member 1 gene (ABCD1, 300371.0001) [MOLECULAR BASIS]

Highly variable phenotype, ranging from asymptomatic to death by age 3 years [MISCELLANEOUS]

Onset ranges from childhood (severe phenotype) to adulthood (limited phenotype) [MISCELLANEOUS]

Heterozygous female carriers may manifest symptoms [MISCELLANEOUS]

Estimated incidence of 1 in 17,000 [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10088201 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.52 ICD10CM 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/MONDO_0018544 EFO LOOM
http://purl.obolibrary.org/obo/DOID_10588 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0018544 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000326 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.695.625.250 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.680.100 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Adrenoleukodystrophy CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.680.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051260 MEDDRA LOOM
http://identifiers.org/omim/300100 REXO LOOM
http://identifiers.org/omim/300100 GEXO LOOM
http://identifiers.org/omim/300100 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.362.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162309 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.680.100 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0018544 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.362.250 RH-MESH LOOM
http://purl.jp/bio/4/id/200906088367021641 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.314.400.250 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.663.112 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.680.100 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038496 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61252 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17789 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.362.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000753684 PDQ LOOM
http://purl.obolibrary.org/obo/Adrenoleukodystrophy NND_ND LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/65389002 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.663.112 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.362.250 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.053.500.270 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D000326 MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10588 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.500.124 RH-MESH LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12527 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12527 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10588 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10588 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10588 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10588 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10588 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10588 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0001755 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.525.124 RH-MESH LOOM
http://www.gamuts.net/entity#adrenoleukodystrophy GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C61252 BERO LOOM
http://purl.bioontology.org/ontology/CSP/4001-0003 CRISP LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Adrenoleukodystrophy RPO LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12527 BIRNLEX LOOM
http://localhost/plosthes.2017-1#11470 PLOSTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.455.124 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/DB-70660 SNMI LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15064 DERMLEX LOOM