Trigonocephaly 1 - Ontology Report

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:	Trigonocephaly 1	go back to main search page
Accession:	DOID:9008388	browse the term
Synonyms:	exact_synonym:	TRIGNO1
	primary_id:	MIM:190440

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Rat (1) Mouse (1) Human (149) Chinchilla (1) Bonobo (1) Dog (1) Squirrel (1) Pig (1) Green Monkey (1) Naked Mole-rat (1) All
Genes (1)

Trigonocephaly 1

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FGFR1

fibroblast growth factor receptor 1

ISO

ClinVar Annotator: match by term: Trigonocephaly 1

OMIM
ClinVar

PMID:9536098 PMID:10629055 PMID:11173846 PMID:12627230 PMID:14513299 More...

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

Term paths to the root

Path 1
Term	Annotations
disease	15687
Developmental Disease	13597
bone development disease	2305
dysostosis	588
synostosis	381
craniosynostosis	319
Nonsyndromic Trigonocephaly	2
Trigonocephaly 1	1
Path 2
Term	Annotations
disease	15687
disease of anatomical entity	15313
musculoskeletal system disease	7849
connective tissue disease	5369
bone disease	3885
bone development disease	2305
dysostosis	588
synostosis	381
craniosynostosis	319
Nonsyndromic Trigonocephaly	2
Trigonocephaly 1	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS