HYPOCHONDROPLASIA
HCH
http://purl.bioontology.org/ontology/OMIM/146000
C0410529
4p16.3
ACH
FGFR3
http://purl.bioontology.org/ontology/OMIM/MTHU017723
http://purl.bioontology.org/ontology/OMIM/MTHU017728
http://purl.bioontology.org/ontology/OMIM/MTHU036874
http://purl.bioontology.org/ontology/OMIM/MTHU015874
http://purl.bioontology.org/ontology/OMIM/MTHU017730
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU017720
http://purl.bioontology.org/ontology/OMIM/MTHU017721
http://purl.bioontology.org/ontology/OMIM/MTHU017722
http://purl.bioontology.org/ontology/OMIM/MTHU017725
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU017727
http://purl.bioontology.org/ontology/OMIM/MTHU002092
http://purl.bioontology.org/ontology/OMIM/MTHU011573
http://purl.bioontology.org/ontology/OMIM/MTHU017724
http://purl.bioontology.org/ontology/OMIM/MTHU036875
http://purl.bioontology.org/ontology/OMIM/MTHU017726
Phenotype description, molecular basis known.
146000
3
pound
Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0010) [MOLECULAR BASIS]
Genetic heterogeneity, some patients not linked to FGFR3 [MISCELLANEOUS]
T019