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Details
Link-It Detail - Disease - Fibrodysplasia Ossificans Progressiva
Debug Stats
  • ### Total Build Time: 21 ms 23.261 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 372 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 230 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_RELATIONSHIPS gt=13 ms Completed: 13 ms rowSize= 13.482 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 7.949 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.171 KB
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  • Reload Stats
Disease (1)
Fibrodysplasia Ossificans Progressiva C0016037
Definition (1)
disease characterized by bony deposits or the ossification of muscle tissue.
Relationships (41)

Relation Types:
diso_​to_​diso : 38
diso_​to_​gene : 2
diso_​to_​phys : 1


Relationships:
classifies : 1
gene_​associated_​with_​disease : 2
is_​associated_​disease_​of : 1
is_​finding_​of_​disease : 1
manifestation_​of : 35
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg 95% of cases are sporadic C1851142
DISO_to_DISOmanifestation_ofimg Alopecia C0002170
DISO_to_DISOmanifestation_ofimg Broad femoral neck C1836590
DISO_to_DISOmanifestation_ofimg Caused by mutation in the activin A receptor, type I gene (ACVR1, 102576.0001) C3149264
DISO_to_DISOmanifestation_ofimg Clinodactyly (fifth finger) C1857528
DISO_to_DISOmanifestation_ofimg Conductive hearing loss C0018777
DISO_to_DISOuseimg Fibrodysplasia Ossificans Progressiva C0016037
DISO_to_DISOmanifestation_ofimg Flat, broad mandibular condyles C1851128
DISO_to_DISOis_associated_disease_ofimg Hallux Valgus C0018536
DISO_to_DISOmanifestation_ofimg Hearing Loss, Sensorineural C0018784
DISO_to_DISOmanifestation_ofimg Joint immobility C1708592
DISO_to_DISOmanifestation_ofimg Majority of cases are secondary to de novo mutation C3276738
DISO_to_DISOmanifestation_ofimg Malformed first metatarsal C3276735
DISO_to_DISOmanifestation_ofimg Mean age of onset, 5 years C1851139
DISO_to_DISOmanifestation_ofimg Mental retardation (6%) C1851127
DISO_to_DISOmanifestation_ofimg Metaphyseal widening C1855248
DISO_to_DISOmanifestation_ofimg Monophalangism of first metatarsal C3276736
DISO_to_DISOmanifestation_ofimg Ossification evident 2-8 months following swelling C1851140
DISO_to_DISOclassifiesimg Other connective tissue disease C0810058
DISO_to_DISOmanifestation_ofimg Painful swelling in aponeuroses C1851136
DISO_to_DISOmanifestation_ofimg Painful swelling in fasciae C1851137
DISO_to_DISOmanifestation_ofimg Painful swellings in tendons C1851131
DISO_to_DISOmanifestation_ofimg Progressive cervical vertebral spine fusion C1851129
DISO_to_DISOmanifestation_ofimg Progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters) C1851138
DISO_to_DISOmanifestation_ofimg Progressive ectopic ossification of tendons and ligaments C1851133
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanPTH1R5745parathyroid hormone 1 receptor
img NCI, Score=801, Pubmed Id: 17103447, UMLKSK CUI: C0016037
HumanBMPR1A657bone morphogenetic protein receptor, type IA
img GENERIF, Score=1000, Pubmed Id: 15940369, UMLKSK CUI: C0016037
HumanBMP4652bone morphogenetic protein 4
img NCI, Score=801, Pubmed Id: 11521229, UMLKSK CUI: C0016037
HumanACVR190activin A receptor, type I
img GENERIF, Score=1000, Pubmed Id: 16642017, UMLKSK CUI: C0016037
img GENERIF, Score=1000, Pubmed Id: 17351709, UMLKSK CUI: C0016037
img GENERIF, Score=717, Pubmed Id: 18952055, UMLKSK CUI: C0016037
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016037Fibrodysplasia Ossificans Progressiva0self