Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

OSTEOGLOPHONIC DYSPLASIA
Synonyms

OSTEOGLOPHONIC DWARFISM
ID

http://purl.bioontology.org/ontology/OMIM/166250
altLabel

OSTEOGLOPHONIC DWARFISM

OGD
cui

C0432283
Gene Locus

8p11.2-p11.1
Gene Symbol

FGFR1

FLT2

HH2

HRTFDS

ECCL

OGD

KAL2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004401

http://purl.bioontology.org/ontology/OMIM/MTHU005232

http://purl.bioontology.org/ontology/OMIM/MTHU007831

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

http://purl.bioontology.org/ontology/OMIM/MTHU016474

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU016478

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU007203

http://purl.bioontology.org/ontology/OMIM/MTHU002205

http://purl.bioontology.org/ontology/OMIM/MTHU016479

http://purl.bioontology.org/ontology/OMIM/MTHU016473

http://purl.bioontology.org/ontology/OMIM/MTHU013037

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU016480

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU016475

http://purl.bioontology.org/ontology/OMIM/MTHU007711

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU016477

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU016121

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU013038

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU005231

http://purl.bioontology.org/ontology/OMIM/MTHU016476

http://purl.bioontology.org/ontology/OMIM/MTHU005346

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU001650

http://purl.bioontology.org/ontology/OMIM/MTHU010505

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

http://purl.bioontology.org/ontology/OMIM/MTHU001173
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

166250
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

OSTEOGLOPHONIC DYSPLASIA
Scope Statement

Osteoglophonic, derived from Greek meaning "hollowed out" [MISCELLANEOUS]

Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0008) [MOLECULAR BASIS]
tui

T019
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