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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-like syndrome 2
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Accession:DOID:0111332 term browser browse the term
Definition:A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3. (DO)
Synonyms:exact_synonym: PTHSL2
 broad_synonym: NRXN-related disorder
 primary_id: OMIM:614325
For additional species annotation, visit the Alliance of Genome Resources.


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Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name 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 chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662 		JBrowse link
G Foxn2 forkhead box N2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,018,653...6,065,216
Ensembl chr 6:6,018,879...6,064,278 		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 chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
G Gtf2a1l general transcription factor 2A subunit 1 like ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,752,814...5,834,797
Ensembl chr 6:5,752,823...5,836,472 		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 chr 6:6,740,147...6,790,664
Ensembl chr 6:6,739,991...6,790,661 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 OMIM
ClinVar		 PMID:2504536 PMID:9536098 PMID:16199547 PMID:17034946 PMID:17576681 More... NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		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 chr 6:5,901,518...5,970,684
Ensembl chr 6:5,901,518...5,970,684 		JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,843,186...5,892,557
Ensembl chr 6:5,843,185...5,892,449 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      Pitt-Hopkins syndrome 16
        Pitt-Hopkins-like syndrome 2 11
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            disease of mental health 7532
              developmental disorder of mental health 4892
                specific developmental disorder 4152
                  intellectual disability 3970
                    syndromic intellectual disability 666
                      Pitt-Hopkins-like syndrome 2 11
paths to the root