Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

FAMILIAL EXPANSILE OSTEOLYSIS

Synonyms

EXPANSILE OSTEOLYSIS, FAMILIAL

ID

http://purl.bioontology.org/ontology/OMIM/174810

altLabel

EXPANSILE OSTEOLYSIS, FAMILIAL

MCCABE DISEASE

POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE

HEPOD

EOF

FEO

cui

C0432292

Gene Locus

18q22.1

Gene Symbol

PDB2

ODFR

OPTB7

FEO

TNFRSF11A

RANK

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU048664

http://purl.bioontology.org/ontology/OMIM/MTHU023952

http://purl.bioontology.org/ontology/OMIM/MTHU048668

http://purl.bioontology.org/ontology/OMIM/MTHU048666

http://purl.bioontology.org/ontology/OMIM/MTHU005598

http://purl.bioontology.org/ontology/OMIM/MTHU021815

http://purl.bioontology.org/ontology/OMIM/MTHU027389

http://purl.bioontology.org/ontology/OMIM/MTHU023949

http://purl.bioontology.org/ontology/OMIM/MTHU023947

http://purl.bioontology.org/ontology/OMIM/MTHU021708

http://purl.bioontology.org/ontology/OMIM/MTHU023941

http://purl.bioontology.org/ontology/OMIM/MTHU023953

http://purl.bioontology.org/ontology/OMIM/MTHU023951

http://purl.bioontology.org/ontology/OMIM/MTHU048665

http://purl.bioontology.org/ontology/OMIM/MTHU023945

http://purl.bioontology.org/ontology/OMIM/MTHU036367

http://purl.bioontology.org/ontology/OMIM/MTHU023943

http://purl.bioontology.org/ontology/OMIM/MTHU048669

http://purl.bioontology.org/ontology/OMIM/MTHU048667

http://purl.bioontology.org/ontology/OMIM/MTHU023950

http://purl.bioontology.org/ontology/OMIM/MTHU023955

http://purl.bioontology.org/ontology/OMIM/MTHU000440

http://purl.bioontology.org/ontology/OMIM/MTHU023956

http://purl.bioontology.org/ontology/OMIM/MTHU023944

http://purl.bioontology.org/ontology/OMIM/MTHU023942

http://purl.bioontology.org/ontology/OMIM/MTHU023948

http://purl.bioontology.org/ontology/OMIM/MTHU023946

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

174810

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

FAMILIAL EXPANSILE OSTEOLYSIS

tui

T019

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111542 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C536335 Medical Subject Headings CUI