Regulation of Transcription Ontology

Last uploaded: December 4, 2018

Preferred Name	Sjoegren-Larsson syndrome
Synonyms	SLS
Definitions	(SLS) - An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects.
ID	http://identifiers.org/omim/270200
altLabel	SLS
definition	(SLS) - An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects.
id	OMIM:270200
notation	OMIM:270200
prefLabel	Sjoegren-Larsson syndrome
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://identifiers.org/omim/270200	REXO	SAME_URI
http://identifiers.org/omim/270200	GEXO	SAME_URI
http://purl.obolibrary.org/obo/OMIM_270200	CCO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10059143	MEDDRA	LOOM
http://identifiers.org/omim/270200	REXO	LOOM
http://identifiers.org/omim/270200	GEXO	LOOM