Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

THANATOPHORIC DYSPLASIA, TYPE I
Synonyms

THANATOPHORIC DWARFISM
ID

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

THANATOPHORIC DWARFISM

TD1

THANATOPHORIC DYSPLASIA

PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE

LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE

TD
cui

C1868678
Gene Locus

4p16.3
Gene Symbol

FGFR3

ACH
Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU027505

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

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

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

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

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

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

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

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

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

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

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

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/MTHU015329

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
Moved from

270230
notation

187600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

THANATOPHORIC DYSPLASIA, TYPE I
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566844 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566844 Medical Subject Headings LOOM