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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:syndromic X-linked intellectual disability Snyder type
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Accession:DOID:0060802 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE;   MRXSSR;   SMS-RELATED DISORDER;   SRS;   Snyder-Robinson mental retardation syndrome;   Snyder-Robinson syndrome;   X-linked mental retardation, Snyder-Robinson type;   spermine synthase deficiency
 primary_id: MESH:C536678
 alt_id: OMIM:309583;   RDO:0002322
 xref: GARD:5615;   ORDO:3063
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic X-linked intellectual disability Snyder type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sms spermine synthase ISO ClinVar Annotator: match by OMIM:309583
ClinVar Annotator: match by term: Snyder Robinson syndrome
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type
ClinVar
OMIM
PMID:5823961 PMID:14508504 PMID:18550699 PMID:19206178 PMID:19377476 PMID:22612257 PMID:23696453 PMID:23805436 PMID:23897707 PMID:25741868 PMID:25888122 PMID:26174906 PMID:26467025 PMID:28492532 PMID:31580924 PMID:33624935 NCBI chr  X:40,363,646...40,415,110
Ensembl chr  X:40,363,646...40,415,109
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Neurodevelopmental Disorders 5684
        intellectual disability 3441
          Mental Retardation, X-Linked 717
            syndromic X-linked intellectual disability 589
              syndromic X-linked intellectual disability Snyder type 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            disease of mental health 7036
              developmental disorder of mental health 4371
                specific developmental disorder 3629
                  intellectual disability 3441
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 717
                        syndromic X-linked intellectual disability 589
                          syndromic X-linked intellectual disability Snyder type 1
paths to the root