JSON

X-linked intellectual disability-cerebellar hypoplasia syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010337

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. [ Orphanet:137831 ]

Synonyms: Oligophrenin-1 syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome OPHN1 syndrome intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:300486 (Orphanet:137831/e)
  • DOID:0080311 (MONDO:equivalentTo)
  • Orphanet:137831 (OMIM:300486)
  • SCTID:719136005 (MONDO:equivalentTo)
  • GARD:9947 (MONDO:GARD)
  • MESH:C537456 (MONDO:equivalentTo)
  • UMLS:C1845366 (MONDO:equivalentTo)
  • MEDGEN:336920 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen

A synonym that is historic and discouraged
mental retardation X-linked 60 (formerly) [ GARD:0009947 ]

ClinGen label
X-linked intellectual disability-cerebellar hypoplasia syndrome

A synonym that is historic and discouraged
mental retardation, X-linked 60, formerly [ https://omim.org/entry/300486 ]

A synonym that is historic and discouraged
mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [ https://omim.org/entry/300486 ]

A synonym that is historic and discouraged
mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance [ GARD:0009947 ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_137831

http://linkedlifedata.com/resource/umls/id/C1845366

http://purl.obolibrary.org/obo/DOID_0080311

https://omim.org/entry/300486

http://identifiers.org/snomedct/719136005

http://identifiers.org/mesh/C537456

http://identifiers.org/medgen/336920

has related synonym

mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

mental retardation X-linked 60 (formerly)

intellectual disability, X-linked 60, formerly

OPHN1 deficiency

mental retardation, X-linked 60

intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance

OPHN1- related XLID

X-linked intellectual Deficit with cerebellar Hypoplasia

MRX60 (formerly)

OPHN1 XLMR, X-linked intellectual disability

intellectual disability X-linked 60 (formerly)

intellectual disability, X-linked 60

mental retardation, X-linked 60, formerly

mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance

OPHN1 XLMR

id

MONDO:0010337

seeAlso

https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521