syndromic X-linked intellectual disability Snyder type
Go to external page http://purl.obolibrary.org/obo/MONDO_0010664
Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed. [ Orphanet:3063 ]
Synonyms: spermine synthase deficiency syndromic X-linked intellectual disability Snyder type Snyder-Robinson intellectual disability syndrome intellectual disability, X-linked, Snyder-Robinson type SRS mental retardation, X-linked, Snyder-Robinson type intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive Snyder-Robinson syndrome Snyder-Robinson mental retardation syndrome
Term information
- OMIM:309583 (Orphanet:3063/e)
- GARD:5615 (Orphanet:3063)
- SCTID:702416008 (MONDO:equivalentTo)
- UMLS:C0796160 (Orphanet:3063)
- MESH:C536678 (MONDO:equivalentTo)
- NORD:1890 (MONDO:NORD)
- ICD9:758.89 (MONDO:relatedTo)
- Orphanet:3063 (OMIM:309583)
- DOID:0060802 (MONDO:equivalentTo)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/4985
https://github.com/monarch-initiative/mondo/issues/5588
https://github.com/monarch-initiative/mondo/issues/4521
http://www.orpha.net/ORDO/Orphanet_3063
http://identifiers.org/snomedct/702416008
http://identifiers.org/mesh/C536678
http://linkedlifedata.com/resource/umls/id/C0796160
http://purl.obolibrary.org/obo/DOID_0060802
https://omim.org/entry/309583
X-linked intellectual disability, Snyder type
intellectual disability, X-linked, syndromic, Snyder-Robinson type
X-linked intellectual disability Snyder-Robinson type
X-linked mental retardation Snyder-Robinson type
MRXSSR
mental retardation, X-linked, syndromic, Snyder-Robinson type