Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ADRENOLEUKODYSTROPHY
Synonyms

BRONZE SCHILDER DISEASE
ID

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

BRONZE SCHILDER DISEASE

ADRENOMYELONEUROPATHY

ADDISON DISEASE AND CEREBRAL SCLEROSIS

SIEMERLING-CREUTZFELDT DISEASE

AMN

ALD

MELANODERMIC LEUKODYSTROPHY
cui

C0162309

C1527231
Gene Locus

Xq28
Gene Symbol

ABCD1

AMN

ALD
Has manifestation

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU042217

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU042215

http://purl.bioontology.org/ontology/OMIM/MTHU042219

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU042216

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU042218

http://purl.bioontology.org/ontology/OMIM/MTHU000440

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

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

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

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

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

Phenotype description, molecular basis known.
notation

300100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ADRENOLEUKODYSTROPHY
tui

T047
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http://purl.bioontology.org/ontology/LNC/LP242687-4 Logical Observation Identifier Names and Codes CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61252 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D000326 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D000326 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D000326 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/LNC/MTHU055485 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LA25796-6 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.52 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.529 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.522 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.obolibrary.org/obo/DOID_10588 Human Disease Ontology 123 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8A44.1 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162309 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162309 MedlinePlus Health Topics LOOM