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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renpenning syndrome
OMIM
CTD
ClinVar
PMID:6711604 PMID:9545405 PMID:13981686 PMID:15024694 PMID:15782410 More... NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Neurodevelopmental Disorders 6102
        intellectual disability 3879
          X-Linked Intellectual Developmental Disorders 751
            syndromic X-linked intellectual disability 615
              Renpenning syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3879
                    X-Linked Intellectual Developmental Disorders 751
                      syndromic X-linked intellectual disability 615
                        Renpenning syndrome 1
paths to the root