Preferred Name |
fibrodysplasia ossificans progressiva |
|
Synonyms |
Stone Man Syndrome |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. |
|
ID |
http://purl.obolibrary.org/obo/DOID_13374 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
OMIM:135100 ICD9CM:728.11 ICD10CM:M61.1 UMLS_CUI:C0016037 MESH:D009221 SNOMEDCT_US_2020_03_01:82725007 GARD:6445 NCI:C3040 ORDO:337 |
|
has exact synonym |
Stone Man Syndrome progressive ossifying myositis myositis ossificans progressiva progressive myositis ossificans |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:13374 |
|
imported from | ||
in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
label |
fibrodysplasia ossificans progressiva |
|
notation |
DOID:13374 |
|
prefLabel |
fibrodysplasia ossificans progressiva |
|
textual definition |
A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. |
|
subClassOf |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.