Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

SJOGREN-LARSSON SYNDROME
Synonyms

ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA

FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY

SLS

FALDH DEFICIENCY

FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/270200
altLabel

ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA

FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY

SLS

FALDH DEFICIENCY

FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY
cui

C0037231
Gene Locus

17p11.2
Gene Symbol

ALDH3A2

SLS

ALDH10

FALDH
Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU053774

http://purl.bioontology.org/ontology/OMIM/MTHU053777

http://purl.bioontology.org/ontology/OMIM/MTHU036378

http://purl.bioontology.org/ontology/OMIM/MTHU009444

http://purl.bioontology.org/ontology/OMIM/MTHU009445

http://purl.bioontology.org/ontology/OMIM/MTHU009440

http://purl.bioontology.org/ontology/OMIM/MTHU000290

http://purl.bioontology.org/ontology/OMIM/MTHU002742

http://purl.bioontology.org/ontology/OMIM/MTHU003281

http://purl.bioontology.org/ontology/OMIM/MTHU009442

http://purl.bioontology.org/ontology/OMIM/MTHU009446

http://purl.bioontology.org/ontology/OMIM/MTHU009447

http://purl.bioontology.org/ontology/OMIM/MTHU053773

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU009441

http://purl.bioontology.org/ontology/OMIM/MTHU009443

http://purl.bioontology.org/ontology/OMIM/MTHU053776

http://purl.bioontology.org/ontology/OMIM/MTHU053775

http://purl.bioontology.org/ontology/OMIM/MTHU000145

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

Phenotype description, molecular basis known.
notation

270200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SJOGREN-LARSSON SYNDROME
Scope Statement

Prevalent in Sweden [MISCELLANEOUS]

Caused by mutation in the aldehyde dehydrogenase 3 family, member A2 gene (ALDH3A2, 609523.0001) [MOLECULAR BASIS]

Onset of neurologic symptoms often by 30 months [MISCELLANEOUS]
tui

T047
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10059143 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/2057-3666 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10048676 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/1840-2225 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003365 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10059143 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10048676 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D016111 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D016111 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10048676 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111303009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10059143 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/111303009 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/0726-9470 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-00606 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X50IH RCD CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.492.723 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.820 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000042 DERMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85070 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.723 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.723 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14501 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14501 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14501 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14501 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14501 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14501 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0016675 OMIT LOOM
http://purl.jp/bio/4/id/200906009392297590 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.723 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C85070 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D016111 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.428.333.723 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Sjogren-Larsson_Syndrome CSEO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038555 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.512.723 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048676 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0010031 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010031 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010031 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010031 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010031 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14501 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.512.723 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016111 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00606 SNMI LOOM
http://id.nlm.nih.gov/mesh/D016111 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.820 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15411 DERMLEX LOOM