Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

THANATOPHORIC DYSPLASIA, TYPE II
Synonyms

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

TD2

THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL

CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM
ID

http://purl.bioontology.org/ontology/OMIM/187601
altLabel

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

TD2

THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL

CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM
cui

C1300257
Gene Locus

4p16.3
Gene Symbol

ACH

FGFR3
Has manifestation

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU015313

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

http://purl.bioontology.org/ontology/OMIM/MTHU000073

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/MTHU036439

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

http://purl.bioontology.org/ontology/OMIM/MTHU015316

http://purl.bioontology.org/ontology/OMIM/MTHU015315

http://purl.bioontology.org/ontology/OMIM/MTHU015320

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

http://purl.bioontology.org/ontology/OMIM/MTHU000585

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

http://purl.bioontology.org/ontology/OMIM/MTHU000730
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

187601
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

THANATOPHORIC DYSPLASIA, TYPE II
Scope Statement

Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0004) [MOLECULAR BASIS]

Death in majority of infants soon after birth [MISCELLANEOUS]
tui

T047
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