ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
SADDAN
http://purl.bioontology.org/ontology/OMIM/616482
SADDAN DYSPLASIA
C2674173
4p16.3
FGFR3
ACH
http://purl.bioontology.org/ontology/OMIM/MTHU002155
http://purl.bioontology.org/ontology/OMIM/MTHU051909
http://purl.bioontology.org/ontology/OMIM/MTHU051898
http://purl.bioontology.org/ontology/OMIM/MTHU051896
http://purl.bioontology.org/ontology/OMIM/MTHU041789
http://purl.bioontology.org/ontology/OMIM/MTHU005318
http://purl.bioontology.org/ontology/OMIM/MTHU051904
http://purl.bioontology.org/ontology/OMIM/MTHU036398
http://purl.bioontology.org/ontology/OMIM/MTHU051902
http://purl.bioontology.org/ontology/OMIM/MTHU005513
http://purl.bioontology.org/ontology/OMIM/MTHU051906
http://purl.bioontology.org/ontology/OMIM/MTHU051900
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU000585
http://purl.bioontology.org/ontology/OMIM/MTHU000921
http://purl.bioontology.org/ontology/OMIM/MTHU005462
http://purl.bioontology.org/ontology/OMIM/MTHU038777
http://purl.bioontology.org/ontology/OMIM/MTHU045354
http://purl.bioontology.org/ontology/OMIM/MTHU004934
http://purl.bioontology.org/ontology/OMIM/MTHU009274
http://purl.bioontology.org/ontology/OMIM/MTHU013384
http://purl.bioontology.org/ontology/OMIM/MTHU051897
http://purl.bioontology.org/ontology/OMIM/MTHU033675
http://purl.bioontology.org/ontology/OMIM/MTHU051907
http://purl.bioontology.org/ontology/OMIM/MTHU051905
http://purl.bioontology.org/ontology/OMIM/MTHU051908
http://purl.bioontology.org/ontology/OMIM/MTHU051901
http://purl.bioontology.org/ontology/OMIM/MTHU051899
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU002092
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU051903
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU002499
http://purl.bioontology.org/ontology/OMIM/MTHU039015
http://purl.bioontology.org/ontology/OMIM/MTHU037406
Phenotype description, molecular basis known.
616482
3
pound
T019