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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: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;   MRX55;   MRXS3;   MRXS8;   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
 xref: ICD10CM:Q87.5;   NCI:C165533;   ORDO:3242
For additional species annotation, visit the Alliance of Genome Resources.


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Renpenning syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by OMIM:309500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renpenning syndrome 1
OMIM
ClinVar
CTD
PMID:6711604 PMID:9545405 PMID:13981686 PMID:15024694 PMID:15782410 PMID:16493439 PMID:16740914 PMID:20410308 PMID:20950397 PMID:21267006 PMID:21315190 PMID:21836667 PMID:24088041 PMID:24781215 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:28492532 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Neurodevelopmental Disorders 4577
        intellectual disability 2193
          Mental Retardation, X-Linked 674
            syndromic X-linked intellectual disability 588
              Renpenning syndrome 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            disease of mental health 6024
              developmental disorder of mental health 3164
                specific developmental disorder 2345
                  intellectual disability 2193
                    syndromic intellectual disability 698
                      Mental Retardation, X-Linked 674
                        syndromic X-linked intellectual disability 588
                          Renpenning syndrome 1
paths to the root