Experimental Factor Ontology

Last uploaded: April 15, 2024
Jump to:
loading...
Preferred Name

adrenoleukodystrophy
Synonyms

adrenoleukodystrophy, X-linked recessive

Bronze-Schilder disease

X-linked adrenoleukodystrophy

encephalitis periaxialis, Schilder's

diffuse cerebral sclerosis of Schilder

adrenomyeloneuropathy, adult, X-linked recessive

X-Linked Adrenoleukodystrophy

Siemerling-Creutzfeldt disease

encephalitis periaxialis concentrica

X-linked ALD

adrenoleukodystrophy, X-linked

adrenoleukodystrophy

X-ALD

ALD

ABCD1 deficiency

sudanophilic cerebral sclerosis

adrenomyeloneuropathy, adult

diffuse sclerosis
Definitions

A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
ID

http://purl.obolibrary.org/obo/MONDO_0018544
closeMatch

http://identifiers.org/meddra/10051260
database_cross_reference

MESH:D000326

Orphanet:43

OMIM:300100

DOID:10588

GARD:5758

ICD9:341.1

NCIT:C61252

SCTID:49692006

MedDRA:10051260

NORD:736

UMLS:C0007795
definition

A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
exactMatch

https://omim.org/entry/300100

http://identifiers.org/mesh/D000326

http://purl.obolibrary.org/obo/Orphanet_43

http://purl.obolibrary.org/obo/DOID_10588

http://purl.obolibrary.org/obo/NCIT_C61252
has_exact_synonym

adrenoleukodystrophy, X-linked recessive

Bronze-Schilder disease

X-linked adrenoleukodystrophy

encephalitis periaxialis, Schilder's

diffuse cerebral sclerosis of Schilder

adrenomyeloneuropathy, adult, X-linked recessive

X-Linked Adrenoleukodystrophy

Siemerling-Creutzfeldt disease

encephalitis periaxialis concentrica

X-linked ALD

adrenoleukodystrophy, X-linked

adrenoleukodystrophy

X-ALD

ALD

ABCD1 deficiency

sudanophilic cerebral sclerosis

adrenomyeloneuropathy, adult
has_related_synonym

diffuse sclerosis
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/2632
id

MONDO:0018544
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#gard_rare
label

adrenoleukodystrophy
notation

MONDO:0018544
prefLabel

adrenoleukodystrophy
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0015129

http://purl.obolibrary.org/obo/MONDO_0019233
subClassOf

http://purl.obolibrary.org/obo/MONDO_0015547

http://purl.obolibrary.org/obo/MONDO_0000425

http://www.ebi.ac.uk/efo/EFO_0005539

http://purl.obolibrary.org/obo/MONDO_0100372

http://purl.obolibrary.org/obo/MONDO_0019046
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018544 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018544 DOVES SAME_URI
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.bioontology.org/ontology/OMIM/300100 OMIM 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