ONTOLOGY REPORT - ANNOTATIONS


Term:Pitt-Hopkins syndrome
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Accession:DOID:0060488 term browser browse the term
Definition:A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (DO)
Synonyms:exact_synonym: PTHS;   severe epileptic encephalopathy, with autonomic dysfunction;   syndromal mental retardation, with intermittent hyperventilation
 related_synonym: Pitt-Hopkins-like syndrome
 primary_id: MESH:C537403
 alt_id: OMIM:610954;   RDO:0003242
 xref: GARD:4372;   ORDO:2896
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Pitt-Hopkins syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:11554173
RGD:8554872
RGD:13450912
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:11554173
RGD:8554872
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:7240710
RGD:8554872
RGD:11554173
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:7240710
RGD:8554872
G Tpk1 thiamin pyrophosphokinase 1 JBrowse link 4 72,792,252 73,174,179 RGD:8554872
Pitt-Hopkins-Like Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Pitt-Hopkins syndrome 4
        Pitt-Hopkins-Like Syndrome 2 1
        cortical dysplasia-focal epilepsy syndrome 2
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
                    Pitt-Hopkins syndrome 4
                      Pitt-Hopkins-Like Syndrome 2 1
                      cortical dysplasia-focal epilepsy syndrome 2
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