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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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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 ClinVar
OMIM		 PMID:10699051, PMID:12070251, PMID:12114483, PMID:13983033, PMID:15706485, PMID:16021471, PMID:16783566, PMID:18792986, PMID:24088041, PMID:25108505, PMID:25388907, PMID:25599811, PMID:25741868, PMID:25741869, PMID:26603346, PMID:26633545, PMID:26788536, PMID:26956253, PMID:27165009, PMID:27311832, PMID:27342041, PMID:27899622, PMID:29460469, PMID:30737887 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039 		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:25741868, PMID:27465822, PMID:29460469 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Menke-Hennekam Syndrome 2
        Menke-Hennekam Syndrome 1 1
        Menke-Hennekam Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Menke-Hennekam Syndrome 2
                      Menke-Hennekam Syndrome 1 1
                      Menke-Hennekam Syndrome 2 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.