lissencephaly type 1 due to doublecortin gene mutation

Go to external page http://purl.obolibrary.org/obo/MONDO_0010239


Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. [ Orphanet:2148 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:Q04.3 (Orphanet:2148)
  • SCTID:715780008 (MONDO:equivalentTo)
  • GARD:0006914 (MONDO:equivalentTo)
  • UMLS:C4275012 (MONDO:equivalentTo)
  • Orphanet:2148 (OMIM:300067)
  • OMIM:300067 (Orphanet:2148)
  • UMLS:C1848199 (Orphanet:2148)
Subsets

gard_rare, ordo_disease

abbreviation
LISX [ GARD:0006914 ]

abbreviation
XLIS [ GARD:0006914 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C1848070

http://linkedlifedata.com/resource/umls/id/C1848200

definition

Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.

exactMatch

http://identifiers.org/omim/300067

http://www.orpha.net/ORDO/Orphanet_2148

http://identifiers.org/snomedct/715780008

http://linkedlifedata.com/resource/umls/id/C4275012

http://linkedlifedata.com/resource/umls/id/C1848199

has exact synonym

X-linked lissencephaly type 1

lissencephaly, X-linked, type 1

has related synonym

LISX

lissencephaly X-linked

lissencephaly and agenesis of corpus callosum

Double cortex syndrome

Dc syndrome

subcortical band heterotopia, X-linked

subcortical laminar heterotopia, X-linked,

lissencephaly, X-linked, 1

X-linked lissencephaly

Xlis

XLIS

subcortical laminar heterotopia, X-linked

LISX1

id

MONDO:0010239

seeAlso

https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked