Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

THANATOPHORIC DYSPLASIA, TYPE II

Synonyms

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

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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