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ONTOLOGY REPORT - ANNOTATIONS


Term:Renpenning syndrome
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Accession:DOID:0060179 term browser browse the term
Definition:An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. (DO)
Synonyms:exact_synonym: Golabi-Ito-Hall syndrome;   Hamel Cerebropalatocardiac Syndrome;   MRXS3;   MRXS8;   Mrx55;   Porteous Syndrome;   RENS1;   Renpenning syndrome 1;   SHS;   Sutherland-Haan X-linked mental retardation syndrome;   Sutherland-Haan syndrome;   X-linked intellectual deficit due to PQBP1 mutations;   X-linked intellectual deficit, Renpenning type;   X-linked intellectual disability due to PQBP1 mutations;   X-linked intellectual disability, Renpenning type;   X-linked mental retardation Renpenning type;   X-linked mental retardation syndromic 3;   X-linked mental retardation with spastic diplegia;   X-linked mental retardation, 55;   syndromic X-linked mental retardation 8
 primary_id: MESH:C537761
 alt_id: OMIM:309500;   RDO:0003659
 xref: ICD10CM:Q87.5;   ORDO:3242
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Renpenning syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Neurodevelopmental Disorders 4190
        intellectual disability 1798
          Mental Retardation, X-Linked 656
            syndromic X-linked intellectual disability 582
              Renpenning syndrome 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            disease of mental health 5642
              developmental disorder of mental health 2813
                specific developmental disorder 1975
                  intellectual disability 1798
                    syndromic intellectual disability 676
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          Renpenning syndrome 1
paths to the root

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