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X-linked intellectual disability-cerebellar hypoplasia syndrome

^ 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 ]

Term info

database cross reference
  • GARD:0009947 (MONDO:equivalentTo)
  • GARD:0013093 (MONDO:equivalentTo)
  • OMIM:300486 (Orphanet:137831/e)
  • MESH:C537456 (MONDO:equivalentTo)
  • Orphanet:137831 (OMIM:300486)
  • SCTID:719136005 (MONDO:equivalentTo)
  • DOID:0080311 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

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

A synonym that is historic and discouraged
mental retardation, X-linked 60 [ OMIM:300486 ]

A synonym that is historic and discouraged
mental retardation, X-linked 60, formerly [ OMIM:300486 ]

A synonym that is historic and discouraged
mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [ OMIM:300486 ]

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

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588, https://github.com/monarch-initiative/mondo/issues/4521

definition

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080311, https://omim.org/entry/300486, http://purl.obolibrary.org/obo/Orphanet_137831, http://identifiers.org/snomedct/719136005, http://identifiers.org/mesh/C537456

has exact synonym

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

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, OPHN1- related XLID, intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 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, OPHN1 XLMR, intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance

id

MONDO:0010337

seeAlso

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