progressive osseous heteroplasia
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:bone
|
| gptkbp:associatedWith |
gptkb:GNAS
|
| gptkbp:cause |
heterotopic ossification
|
| gptkbp:differentialDiagnosis |
gptkb:fibrodysplasia_ossificans_progressiva
gptkb:Albright_hereditary_osteodystrophy |
| gptkbp:firstDescribed |
1994
|
| gptkbp:hasOrphanetID |
ORPHA:98853
|
| https://www.w3.org/2000/01/rdf-schema#label |
progressive osseous heteroplasia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
166350
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
progressive bone formation
subcutaneous ossification |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Guanine_nucleotide-binding_protein_G(s)_subunit_alpha
gptkb:GNAS_gene gptkb:GNAS |
| gptkbp:bfsLayer |
7
|