Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 6:11,662,356...11,737,427
Ensembl chr 6:11,662,356...11,686,682
JBrowse link
G Foxn2 forkhead box N2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:12,158,127...12,205,450
Ensembl chr 6:12,179,227...12,205,446
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
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 6:12,412,198...12,468,613
Ensembl chr 6:12,415,805...12,468,596
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 6:11,373,917...11,494,459
Ensembl chr 6:11,373,917...11,494,459
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar Annotator: match by OMIM:614325
OMIM
ClinVar
PMID:2504536 PMID:9536098 PMID:17034946 PMID:17576681 PMID:18179900 PMID:18414213 PMID:18490107 PMID:19896112 PMID:20347009 PMID:20468056 PMID:20848651 PMID:21288692 PMID:21424692 PMID:21681106 PMID:21827697 PMID:21964664 PMID:22405623 PMID:22504536 PMID:22617343 PMID:23207424 PMID:23472757 PMID:23495017 PMID:23533028 PMID:23849776 PMID:24832020 PMID:25149956 PMID:25326635 PMID:25408897 PMID:25614873 PMID:25661985 PMID:25741868 PMID:26325558 PMID:26350204 PMID:26467025 PMID:26742492 PMID:27195815 PMID:28166811 PMID:28289584 PMID:28492532 PMID:29221905 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
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 6:12,253,788...12,323,427
Ensembl chr 6:12,253,788...12,323,421
JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:12,332,465...12,379,783
Ensembl chr 6:12,362,813...12,379,783
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Pitt-Hopkins syndrome 16
        Pitt-Hopkins-like syndrome 2 11
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              developmental disorder of mental health 4270
                specific developmental disorder 3534
                  intellectual disability 3387
                    syndromic intellectual disability 751
                      Pitt-Hopkins-like syndrome 2 11
paths to the root