ONTOLOGY REPORT - ANNOTATIONS


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
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Menke-Hennekam Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      Menke-Hennekam Syndrome 2
        Menke-Hennekam Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Menke-Hennekam Syndrome 2
                      Menke-Hennekam Syndrome 2 1
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