Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	ACHONDROPLASIA
Synonyms	ACH
ID	http://purl.bioontology.org/ontology/OMIM/100800
altLabel	ACH
cui	C0001080
Gene Locus	4p16.3
Gene Symbol	ACH FGFR3
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002791 http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU019832 http://purl.bioontology.org/ontology/OMIM/MTHU002014 http://purl.bioontology.org/ontology/OMIM/MTHU000876 http://purl.bioontology.org/ontology/OMIM/MTHU019831 http://purl.bioontology.org/ontology/OMIM/MTHU019838 http://purl.bioontology.org/ontology/OMIM/MTHU019837 http://purl.bioontology.org/ontology/OMIM/MTHU015883 http://purl.bioontology.org/ontology/OMIM/MTHU005586 http://purl.bioontology.org/ontology/OMIM/MTHU036344 http://purl.bioontology.org/ontology/OMIM/MTHU019829 http://purl.bioontology.org/ontology/OMIM/MTHU013168 http://purl.bioontology.org/ontology/OMIM/MTHU019839 http://purl.bioontology.org/ontology/OMIM/MTHU001499 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU019842 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU066983 http://purl.bioontology.org/ontology/OMIM/MTHU003644 http://purl.bioontology.org/ontology/OMIM/MTHU019835 http://purl.bioontology.org/ontology/OMIM/MTHU019840 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU019836 http://purl.bioontology.org/ontology/OMIM/MTHU014450 http://purl.bioontology.org/ontology/OMIM/MTHU019830 http://purl.bioontology.org/ontology/OMIM/MTHU019828 http://purl.bioontology.org/ontology/OMIM/MTHU019834 http://purl.bioontology.org/ontology/OMIM/MTHU019833 http://purl.bioontology.org/ontology/OMIM/MTHU004934
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	100800
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ACHONDROPLASIA
Scope Statement	99+% of the mutations are FGFR3, G380R (134934.0001) [MISCELLANEOUS] Autosomal dominant with complete penetrance [MISCELLANEOUS] 80% cases new mutations [MISCELLANEOUS] Paternal age effect [MISCELLANEOUS] Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0001) [MOLECULAR BASIS]
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10000452	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/2715-2940	CRISP	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/MDRFRE/10000453	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X76BI	RCD	CUI
http://purl.bioontology.org/ontology/RCD/XE1M7	RCD	CUI
http://purl.bioontology.org/ontology/ICPC2P/L82001	ICPC2P	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000281	NDFRT	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4	ICD10CM	CUI
http://purl.bioontology.org/ontology/SCTSPA/86268005	SCTSPA	CUI
http://purl.bioontology.org/ontology/CST/CHONDRODYST	COSTART	CUI
http://purl.bioontology.org/ontology/MDRGER/10000453	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D000130	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86268005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10000452	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4	ICD10	CUI
http://purl.bioontology.org/ontology/CSP/1849-0171	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10000453	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000130	MSHFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10000452	MEDDRA	CUI
http://purl.obolibrary.org/obo/DOID_4480	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	MONDO	LOOM
http://purl.org/skeletome/bonedysplasia#Achondroplasia	BDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000130	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	DOVES	LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080	MEDLINEPLUS	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A16	SNMI	LOOM
http://purl.bioontology.org/ontology/RCD/XE1M7	RCD	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110	RH-MESH	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia	PEDTERM	LOOM
http://www.projecthalo.com/aura#Achondroplasia	AURA	LOOM
http://identifiers.org/omim/100800	REXO	LOOM
http://identifiers.org/omim/100800	GEXO	LOOM
http://identifiers.org/omim/100800	RETO	LOOM
http://purl.jp/bio/4/id/200906065894508826	IOBC	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4	ICD10CM	LOOM
http://localhost/plosthes.2017-1#11376	PLOSTHES	LOOM
http://www.co-ode.org/ontologies/galen#Achondroplasia	GALEN	LOOM
urn:agi-pathway:uuid-708db1ba-e8b3-4b18-b3b1-e89e3e4a653f	BPT	LOOM
http://www.radlex.org/RID/RID34620	RADLEX	LOOM
http://purl.bioontology.org/ontology/MESH/D000130	MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/86268005	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/OMIM_100800	CCO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480	NATPRO	LOOM
http://www.orpha.net/ORDO/Orphanet_15	ORDO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_4480	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_4480	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_4480	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_4480	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	FNS-H	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_148	HRDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41.00	RCTV2	LOOM
urn:agi-folder:achondroplasia	BPT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345	NCIT	LOOM
http://nanbyodata.jp/ontology/NANDO_1200877	NANDO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036720	PMAPP-PMO	LOOM
rgo:12490	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia	CSEO	LOOM
http://nanbyodata.jp/ontology/NANDO_2201009	NANDO	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4	ICD10	LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171	CRISP	LOOM
http://purl.obolibrary.org/obo/NCIT_C34345	BERO	LOOM
http://purl.obolibrary.org/obo/OMIT_0001572	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080	OCHV	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#628	OCHV	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000452	MEDDRA	LOOM