Pitt-Hopkins-like syndrome 2 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	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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Rat (11) Mouse (12) Human (619) Chinchilla (11) Bonobo (11) Dog (11) Squirrel (11) Pig (11) All
Genes (11)

Pitt-Hopkins-like syndrome 2

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box protein 11

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:11,662,356...11,737,427
Ensembl chr 6:11,662,356...11,686,682

G

forkhead box N2

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:12,158,127...12,205,450
Ensembl chr 6:12,179,227...12,205,446

G

follicle stimulating hormone receptor

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817

G

general transcription factor 2A subunit 1 like

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:12,412,198...12,468,613
Ensembl chr 6:12,415,805...12,468,596

G

potassium two pore domain channel subfamily K member 12

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:11,373,917...11,494,459
Ensembl chr 6:11,373,917...11,494,459

G

luteinizing hormone/choriogonadotropin receptor

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439

G

mutS homolog 2

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932

G

mutS homolog 6

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499

G

neurexin 1

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar Annotator: match by OMIM:614325

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

G

protein phosphatase 1, regulatory subunit 21

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:12,253,788...12,323,427
Ensembl chr 6:12,253,788...12,323,421

G

stonin 1

ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2

NCBI chr 6:12,332,465...12,379,783
Ensembl chr 6:12,362,813...12,379,783

Term paths to the root

Path 1
Term	Annotations
disease	16918
syndrome	7575
Pitt-Hopkins syndrome	16
Pitt-Hopkins-like syndrome 2	11
Path 2
Term	Annotations
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