Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/100800
http://purl.bioontology.org/ontology/OMIM/100800
Preferred Name

ACHONDROPLASIA
Synonyms
ACH
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ACH
prefLabel
ACHONDROPLASIA
Gene Symbol
ACH
FGFR3
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]
type
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
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tui
T047
Gene Locus
4p16.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
100800
Semantic type UMLS property
Has inheritance type
cui
C0001080
OMIM Entry Type
3
OMIM MimType Value
pound
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