Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Acroosteolysis dominant type 
ADAR-related type 1 interferonopathy +  
Aicardi-Goutieres syndrome +  
aneurysmal bone cyst 
arterial tortuosity syndrome 
autoimmune interstitial lung disease-arthritis syndrome 
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 
autoinflammatory disease, multisystem, with immune dysregulation, X-linked 
autoinflammatory disease, systemic, with vasculitis 
autoinflammatory disease, X-linked 
autoinflammatory syndrome with immunodeficiency 
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 
autoinflammatory syndrome, familial, Behcet-like +  
autosomal recessive inherited pseudoxanthoma elasticum 
autosomal systemic lupus erythematosus type 16 
Bartholin Gland Carcinoma +  
Blau syndrome 
bone fibrosarcoma 
bone fragility with contractures, arterial rupture, and deafness 
breast cancer +   
breast fibrosarcoma 
brittle cornea syndrome 
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 
central nervous system fibrosarcoma 
cherubism 
CHILD syndrome 
chondrocalcinosis 2 
chondrosarcoma +  
chronic myelogenous leukemia +   
chronic recurrent multifocal osteomyelitis +  
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 
conventional fibrosarcoma +  
deficiency of adenosine deaminase 2 +  
dermatofibrosarcoma protuberans 
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
Desbuquois dysplasia 2 
Desmoid-type fibromatosis +  
diaphyseal medullary stenosis-bone malignancy syndrome 
Ehlers-Danlos syndrome, kyphoscoliotic type 1 
EMILIN-1-related connective tissue disease 
encephalocraniocutaneous lipomatosis 
Ewing sarcoma of bone 
familial chilblain lupus +  
familial isolated pituitary adenoma +  
heart fibrosarcoma 
hereditary multiple osteochondromas +  
hereditary periodic fever syndrome +  
hyperparathyroidism 2 with jaw tumors 
hyperparathyroidism 4 
idiopathic juvenile osteoporosis 
IFIH1-related type 1 interferonopathy +  
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +  
infantile myofibromatosis +  
inherited acute myeloid leukemia 
jugulotympanic paraganglioma +  
juvenile hyaline fibromatosis 
kidney fibrosarcoma 
liver fibrosarcoma 
Low Grade Fibromyxoid Sarcoma +  
Maffucci syndrome 
Marfan and Marfan-related disorder +  
MASS syndrome 
multiple epiphyseal dysplasia due to collagen 9 anomaly +  
multiple symmetric lipomatosis 
myxoid liposarcoma +  
neonatal inflammatory skin and bowel disease +  
neonatal severe primary hyperparathyroidism 
Ollier disease 
orbit embryonal rhabdomyosarcoma 
ossification of the posterior longitudinal ligament of the spine  
pediatric fibrosarcoma +  
Pelger-Huet-like anomaly and episodic fever with abdominal pain 
Peyronie disease +   
progeroid and marfanoid aspect-lipodystrophy syndrome 
proteosome-associated autoinflammatory syndrome +  
psoriasis 14, pustular  
pyogenic arthritis-pyoderma gangrenosum-acne syndrome 
RNU7-1-related type 1 interferonopathy +  
Singleton-Merten dysplasia +  
skin cancer +   
small intestinal fibrosarcoma 
spondylo-ocular syndrome 
Spondyloenchondrodysplasia with immune dysregulation 
STING-associated vasculopathy with onset in infancy 
sweet syndrome 
TREX1-related type 1 interferonopathy +  
trichohepatoenteric syndrome 
type 2 collagenopathy +  
uterine fibroid +   
VEXAS syndrome 
X-linked reticulate pigmentary disorder 

Synonyms
Exact Synonyms: DFSP ;   DOID:3507 ;   NCIT:C4683 ;   Orphanet:31112 ;   dermatofibrosarcoma ;   http://identifiers.org/medgen/811326 ;   http://identifiers.org/mesh/D018223 ;   http://identifiers.org/snomedct/276799004 ;   http://linkedlifedata.com/resource/umls/id/C3693482 ;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1579898301
Synonyms: http://identifiers.org/meddra/10057070
Related Synonyms: familial dermatofibrosarcoma protuberans (subtype) ;   giant cell fibroblastoma ;   metastatic dermatofibrosarcoma protuberans (subtype)
Alternate IDs: MONDO:0011934
Xrefs: DOID:3507 ;   GARD:9569 ;   ICDO:8832/3 ;   MEDGEN:811326 ;   MESH:D018223 ;   MIM:607907 ;   MedDRA:10057070 ;   NCI:C4683 ;   ONCOTREE:DFSP ;   ORDO:31112
see_also: https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans" xsd:anyURI {source="GARD:0009569
Definition Sources: Orphanet:31112

paths to the root