Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic X-linked intellectual disability Snyder type
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
syndromic X-linked intellectual disability Snyder type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sms spermine synthase JBrowse link X 40,363,646 40,415,110 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    Developmental Diseases 8985
      Neurodevelopmental Disorders 4190
        intellectual disability 1798
          Mental Retardation, X-Linked 656
            syndromic X-linked intellectual disability 582
              syndromic X-linked intellectual disability Snyder type 1
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      nervous system disease 10397
        central nervous system disease 8545
          brain disease 7901
            disease of mental health 5643
              developmental disorder of mental health 2812
                specific developmental disorder 1975
                  intellectual disability 1798
                    syndromic intellectual disability 676
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          syndromic X-linked intellectual disability Snyder type 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.