Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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/MTHU026702

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

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/MTHU019844

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/MTHU041136

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/MTHU026703

http://purl.bioontology.org/ontology/OMIM/MTHU015949

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

http://purl.bioontology.org/ontology/OMIM/MTHU019845

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
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MedlinePlus Health Topics LOOM
http://purl.bioontology.org/ontology/MESH/D000130 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D000130 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_4480 Human Disease Ontology 123 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LD24.00 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q77.4 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 National Cancer Institute Thesaurus LOOM