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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 2
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Accession:DOID:9000493 term browser browse the term
Definition:Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. (OMIM)
Synonyms:exact_synonym: MKHK2
 primary_id: OMIM:618333
For additional species annotation, visit the Alliance of Genome Resources.



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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:24728327 PMID:25741868 PMID:27465822 PMID:28492532 More... NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    syndrome 8152
      Menke-Hennekam Syndrome 2
        Menke-Hennekam Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        central nervous system disease 10411
          brain disease 9772
            disease of mental health 7064
              developmental disorder of mental health 4406
                specific developmental disorder 3665
                  intellectual disability 3476
                    Menke-Hennekam Syndrome 2
                      Menke-Hennekam Syndrome 2 1
paths to the root