CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS

CROUZONODERMOSKELETAL SYNDROME

http://purl.bioontology.org/ontology/OMIM/612247

CROUZONODERMOSKELETAL SYNDROME

CAN

C2677099

4p16.3

ACH

FGFR3

http://purl.bioontology.org/ontology/OMIM/MTHU050375

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU050374

http://purl.bioontology.org/ontology/OMIM/MTHU001136

http://purl.bioontology.org/ontology/OMIM/MTHU002205

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU050377

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

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU050380

http://purl.bioontology.org/ontology/OMIM/MTHU036653

http://purl.bioontology.org/ontology/OMIM/MTHU050376

http://purl.bioontology.org/ontology/OMIM/MTHU050381

http://purl.bioontology.org/ontology/OMIM/MTHU050378

http://purl.bioontology.org/ontology/OMIM/MTHU016093

http://purl.bioontology.org/ontology/OMIM/MTHU050379

http://purl.bioontology.org/ontology/OMIM/MTHU001173

Phenotype description, molecular basis known.

612247

3

pound

CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS

Onset of acanthosis nigricans in childhood or by puberty [MISCELLANEOUS]

Caused by mutation (A391E) in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0011) [MOLECULAR BASIS]

T047