Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

THANATOPHORIC DYSPLASIA, TYPE II
Synonyms

CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM
ID

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

CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM

THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

TD2
cui

C1300257
Gene Locus

4p16.3
Gene Symbol

FGFR3

ACH
Has manifestation

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU027506

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU015323

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

187601
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

THANATOPHORIC DYSPLASIA, TYPE II
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536508 Medical Subject Headings CUI