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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


show annotations for term's descendants           Sort by:
Renpenning syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pqbp1 polyglutamine binding protein 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renpenning syndrome
OMIM:309500		 OMIM
CTD
ClinVar
MouseDO		 PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 More... NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Renpenning syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32903913 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Neurodevelopmental Disorders 6832
        intellectual disability 4290
          X-Linked Intellectual Developmental Disorders 807
            syndromic X-linked intellectual disability 617
              Renpenning syndrome 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    X-Linked Intellectual Developmental Disorders 807
                      syndromic X-linked intellectual disability 617
                        Renpenning syndrome 2
paths to the root