(Q55784327)

English

congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

human disease

Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
ISQMR
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR

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Statements

0 references

class of disease

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disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal ichthyosis syndrome with prominent neurological signs

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare dyslipidemia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

neurometabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000118402/Orphanet_352333

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_352333

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Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

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