THANATOPHORIC DYSPLASIA, TYPE I

THANATOPHORIC DYSPLASIA

http://purl.bioontology.org/ontology/OMIM/187600

THANATOPHORIC DYSPLASIA

PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE

TD1

TD

THANATOPHORIC DWARFISM

LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE

C1868678

4p16.3

ACH

FGFR3

http://purl.bioontology.org/ontology/OMIM/MTHU023840

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU015318

http://purl.bioontology.org/ontology/OMIM/MTHU015328

http://purl.bioontology.org/ontology/OMIM/MTHU015324

http://purl.bioontology.org/ontology/OMIM/MTHU010455

http://purl.bioontology.org/ontology/OMIM/MTHU015319

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

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU015330

http://purl.bioontology.org/ontology/OMIM/MTHU015327

http://purl.bioontology.org/ontology/OMIM/MTHU015321

http://purl.bioontology.org/ontology/OMIM/MTHU011736

http://purl.bioontology.org/ontology/OMIM/MTHU002784

http://purl.bioontology.org/ontology/OMIM/MTHU011902

http://purl.bioontology.org/ontology/OMIM/MTHU009012

http://purl.bioontology.org/ontology/OMIM/MTHU015326

http://purl.bioontology.org/ontology/OMIM/MTHU036439

http://purl.bioontology.org/ontology/OMIM/MTHU015317

http://purl.bioontology.org/ontology/OMIM/MTHU015325

http://purl.bioontology.org/ontology/OMIM/MTHU015331

http://purl.bioontology.org/ontology/OMIM/MTHU015312

http://purl.bioontology.org/ontology/OMIM/MTHU015329

http://purl.bioontology.org/ontology/OMIM/MTHU005316

Phenotype description, molecular basis known.

270230

187600

3

pound

THANATOPHORIC DYSPLASIA, TYPE I

Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0005) [MOLECULAR BASIS]

Death in majority of infants soon after birth [MISCELLANEOUS]

T047