FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Sjogren-Larsson syndrome
Synonyms
Definitions

A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
ID

http://purl.obolibrary.org/obo/DOID_14501
definition

A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Sjogren-Larsson syndrome
prefixIRI

DOID:14501
prefLabel

Sjogren-Larsson syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_14501 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14501 NIFSTD SAME_URI
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