FAMILIAL EXPANSILE OSTEOLYSIS

EXPANSILE OSTEOLYSIS, FAMILIAL

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

EXPANSILE OSTEOLYSIS, FAMILIAL

MCCABE DISEASE

POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE

HEPOD

EOF

FEO

C0432292

18q22.1

PDB2

ODFR

OPTB7

FEO

TNFRSF11A

RANK

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/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/MTHU067350

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/MTHU048667

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

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

Phenotype description, molecular basis known.

174810

3

pound

FAMILIAL EXPANSILE OSTEOLYSIS

Onset of bone disease in second decade (range 18-44 years) [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

Caused by mutation in the tumor necrosis factor receptor superfamily, member 11A gene (TNFRSF11A, 603499.0001) [MOLECULAR BASIS]

Onset of hearing loss in childhood [MISCELLANEOUS]

T019