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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

FGFR3

ACH
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU019838

http://purl.bioontology.org/ontology/OMIM/MTHU066983

http://purl.bioontology.org/ontology/OMIM/MTHU019828

http://purl.bioontology.org/ontology/OMIM/MTHU005586

http://purl.bioontology.org/ontology/OMIM/MTHU003644

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU019836

http://purl.bioontology.org/ontology/OMIM/MTHU014450

http://purl.bioontology.org/ontology/OMIM/MTHU019834

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU015883

http://purl.bioontology.org/ontology/OMIM/MTHU001499

http://purl.bioontology.org/ontology/OMIM/MTHU019831

http://purl.bioontology.org/ontology/OMIM/MTHU004934

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU019829

http://purl.bioontology.org/ontology/OMIM/MTHU019839

http://purl.bioontology.org/ontology/OMIM/MTHU002791

http://purl.bioontology.org/ontology/OMIM/MTHU019833

http://purl.bioontology.org/ontology/OMIM/MTHU019835

http://purl.bioontology.org/ontology/OMIM/MTHU019842

http://purl.bioontology.org/ontology/OMIM/MTHU019830

http://purl.bioontology.org/ontology/OMIM/MTHU019832

http://purl.bioontology.org/ontology/OMIM/MTHU019837

http://purl.bioontology.org/ontology/OMIM/MTHU019840

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU013168

http://purl.bioontology.org/ontology/OMIM/MTHU036344

http://purl.bioontology.org/ontology/OMIM/MTHU000876
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

100800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ACHONDROPLASIA
Scope Statement

Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0001) [MOLECULAR BASIS]

Autosomal dominant with complete penetrance [MISCELLANEOUS]

80% cases new mutations [MISCELLANEOUS]

99+% of the mutations are FGFR3, G380R (134934.0001) [MISCELLANEOUS]

Paternal age effect [MISCELLANEOUS]
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://www.orpha.net/ORDO/Orphanet_15 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D000130 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D000130 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_4480 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_4480 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LD24.00 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q77.4 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM