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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: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, and distinctive facial features and that 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
 xref: GARD:4372;   NCI:C129872;   ORDO:2896

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Pitt-Hopkins syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:27747449 PMID:28492532 NCBI chrNW_004955491:1,983,002...3,982,510
Ensembl chrNW_004955491:1,984,050...3,981,830 		JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome ClinVar PMID:28492532 PMID:29924869 NCBI chrNW_004955441:16,230,977...17,178,003
Ensembl chrNW_004955441:16,234,070...17,178,005 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION | ClinVar Annotator: match by term: Pitt-Hopkins syndrome
ClinVar Annotator: match by term: MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION | ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:12032737 PMID:12848929 PMID:16199547 PMID:16531728 More... NCBI chrNW_004955402:39,735,596...40,066,151
Ensembl chrNW_004955402:39,735,600...40,066,151 		JBrowse link
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 susceptibility ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar
OMIM		 PMID:6564677 PMID:9536098 PMID:11568923 PMID:16199547 PMID:16571880 More... NCBI chrNW_004955491:1,983,002...3,982,510
Ensembl chrNW_004955491:1,984,050...3,981,830 		JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chrNW_004955491:4,165,400...4,212,483
Ensembl chrNW_004955491:4,165,561...4,212,054 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235 		JBrowse link
G Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:27439707 NCBI chrNW_004955491:621,941...968,570
Ensembl chrNW_004955491:623,530...968,253 		JBrowse link
Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:14,471,283...14,495,508
Ensembl chrNW_004955441:14,471,283...14,553,916 		JBrowse link
G Foxn2 forkhead box N2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:14,882,312...14,950,878
Ensembl chrNW_004955441:14,882,291...14,950,878 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:22617343 PMID:28492532 NCBI chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537 		JBrowse link
G Gtf2a1l general transcription factor IIA subunit 1 like ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:15,142,906...15,193,089
Ensembl chrNW_004955441:15,142,216...15,192,976 		JBrowse link
G Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:14,270,030...14,281,639 JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:15,205,883...15,263,617
Ensembl chrNW_004955441:15,207,252...15,242,914 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227 		JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: NRXN1-related condition | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17034946 PMID:17576681 PMID:18179900 More... NCBI chrNW_004955441:16,230,977...17,178,003
Ensembl chrNW_004955441:16,234,070...17,178,005 		JBrowse link
G Ppp1r21 protein phosphatase 1 regulatory subunit 21 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:15,002,126...15,061,967
Ensembl chrNW_004955441:15,004,888...15,061,967 		JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955441:15,071,765...15,126,534
Ensembl chrNW_004955441:15,112,555...15,127,354 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Pitt-Hopkins syndrome 16
        Pitt-Hopkins-like syndrome 2 11
        cortical dysplasia-focal epilepsy syndrome 4
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              developmental disorder of mental health 4976
                specific developmental disorder 4103
                  intellectual disability 3919
                    Pitt-Hopkins syndrome 16
                      Pitt-Hopkins-like syndrome 2 11
                      cortical dysplasia-focal epilepsy syndrome 4
paths to the root