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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   monostotic fibrous dysplasia
  

Disease ID 1527
Disease monostotic fibrous dysplasia
Definition
FIBROUS DYSPLASIA OF BONE involving only one bone.
Synonym
dysplasia, monostotic fibrous
dysplasias, monostotic fibrous
fibrous dysplasia, monostotic
fibrous dysplasia, monostotic [disease/finding]
fibrous dysplasias, monostotic
localised osteitis fibrosa
localized osteitis fibrosa
monostotic dysplasia
monostotic fibrous dysplasia (disorder)
monostotic fibrous dysplasia [dup] (disorder)
monostotic fibrous dysplasia of bone
monostotic fibrous dysplasias
osteitis fibrosa circumscripta
Orphanet
UMLS
C0016064
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0029463  |  osteosarcoma  |  1
C0034735  |  raynaud's phenomenon  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
2778  |  GNAS  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:1)
GNAS  |  20q13.32
Disease ID 1527
Disease monostotic fibrous dysplasia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
HP:0030880  |  Raynaud phenomenon  |  1
HP:0002669  |  Osteosarcoma  |  1
Disease ID 1527
Disease monostotic fibrous dysplasia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C1660219  |  analgesia
C0039984  |  thoracic outlet syndrome
C0015300  |  proptosis
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1527
Disease monostotic fibrous dysplasia
Case(Waiting for update.)