loading...| Preferred Name |
fibrodysplasia ossificans progressiva |
|
| Synonyms |
|
|
| 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]. |
|
| 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. |
|
| hasDbXref |
ICD9CM:728.11 SNOMEDCT_US_2016_03_01:205527009 ICD10CM:M61.10 SNOMEDCT_US_2016_03_01:240121004 ICD10CM:M61.1 SNOMEDCT_US_2016_03_01:82725007 OMIM:135100 MESH:D009221 NCI:C3040 UMLS_CUI:C0016037 |
|
| hasExactSynonym |
Stone Man Syndrome progressive ossifying myositis progressive myositis ossificans myositis ossificans progressiva |
|
| hasOBONamespace |
disease_ontology |
|
| id |
DOID:13374 |
|
| imported from | ||
| inSubset | ||
| label |
fibrodysplasia ossificans progressiva |
|
| prefixIRI |
DOID:13374 |
|
| prefLabel |
fibrodysplasia ossificans progressiva |
|
| subClassOf |
This 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.
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
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 Bioportal's Classes tree viewer.
References (optional)
Provide evidence for the existence of the requested term such as Pubmed IDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.