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


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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 14759
    syndrome 4210
      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 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Pitt-Hopkins syndrome 4
                      Pitt-Hopkins-Like Syndrome 2 1
                      cortical dysplasia-focal epilepsy syndrome 2
paths to the root