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

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_psychiatric_disorder, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

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

A synonym that is historic and discouraged
mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

ClinGen label
X-linked intellectual disability-cerebellar hypoplasia syndrome [ Orphanet:137831 ]

A synonym that is historic and discouraged
mental retardation, X-linked 60, formerly

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

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0010337

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