Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	fibroblast growth factor receptor 1
Synonyms	H5 CEK H4 H2 FLG N-SAM CD331 Pfeiffer syndrome BFGFR H3
ID	http://www.orpha.net/ORDO/Orphanet_121802
alternative_term	H5 CEK H4 H2 FLG N-SAM CD331 Pfeiffer syndrome BFGFR H3
hasDbXref	IUPHAR:1808 SwissProt:P11362 Genatlas:FGFR1 OMIM:136350 ClinVar:FGFR1 Reactome:P11362 Ensembl:ENSG00000077782 HGNC:3688
label	fibroblast growth factor receptor 1
prefixIRI	ORDO:Orphanet_121802
prefLabel	fibroblast growth factor receptor 1
symbol	FGFR1
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000001448	OBA	LOOM
http://www.drugtargetontology.org/dto/DTO_03100149	DTO	LOOM
http://purl.obolibrary.org/obo/PR_000001448	PR	LOOM
http://purl.obolibrary.org/obo/PR_000001448	CIDO	LOOM
http://purl.bioontology.org/ontology/OMIM/136350	OMIM	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16046	HRDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C17590	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17590	NCIT	LOOM
http://purl.org/skeletome/bonedysplasia#P000067	BDO	LOOM