Terminology Service for NFDI4Health
X-linked intellectual disability-cerebellar hypoplasia syndrome
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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. [ ]
Term info
Label
X-linked intellectual disability-cerebellar hypoplasia syndrome
Synonyms
- OPHN1 syndrome
- Oligophrenin-1 syndrome
- X-linked intellectual disability-cerebellar hypoplasia syndrome
- intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive
Subsets
gard_rare, ordo_disease
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 related synonym
mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, intellectual disability, X-linked 60, formerly, intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance, 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, mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance, MRX60 (formerly), OPHN1 XLMR, X-linked intellectual disability, mental retardation x-linked 60 (formerly), intellectual disability, X-linked 60, mental retardation, X-linked 60, formerly, OPHN1 XLMR, intellectual disability x-linked 60 (formerly)
id
MONDO:0010337
narrowMatch
https://icd.codes/icd10cm/Q04.3
see also
https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance, https://github.com/monarch-initiative/mondo/issues/4521