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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:Menke-Hennekam Syndrome
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Accession:DOID:9008706 term browser browse the term
Synonyms:xref: OMIM:PS618332


show annotations for term's descendants           Sort by:
Menke-Hennekam Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Menke-Hennekam syndrome ClinVar PMID:25741868 PMID:27311832 PMID:29159939 PMID:29460469 PMID:30892814 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
Menke-Hennekam Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 OMIM
ClinVar		 PMID:9215639 PMID:9536098 PMID:11023789 PMID:12114483 PMID:12566391 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
Menke-Hennekam Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Menke-Hennekam syndrome 2 OMIM
ClinVar		 PMID:18414213 PMID:24381114 PMID:24728327 PMID:25741868 PMID:27465822 More... NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Menke-Hennekam Syndrome 2
        Menke-Hennekam Syndrome 1 1
        Menke-Hennekam Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              developmental disorder of mental health 5493
                specific developmental disorder 4448
                  intellectual disability 4253
                    Menke-Hennekam Syndrome 2
                      Menke-Hennekam Syndrome 1 1
                      Menke-Hennekam Syndrome 2 1
paths to the root