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病歷用詞 → 對應的 HPO,並附加具這些 HPO 的疾病作為參考。
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待審核對應 HPO 表現型(1)
- ArthritisHP:0001369權重 0.8已確認具此 HPO 的疾病(附加參考):
- 22q11.2 deletion syndrome (ORPHA:567)
- Activated PI3K-delta syndrome (ORPHA:397596)
- Adiposis dolorosa (ORPHA:36397)
- Adult-onset Still disease (ORPHA:829)
- Aicardi-Goutières syndrome (ORPHA:51)
- Albers-Schönberg osteopetrosis (ORPHA:53)
- Alkaptonuria (ORPHA:56)
- Alpha-mannosidosis (ORPHA:61)
- Anti-glomerular basement membrane disease (ORPHA:375)
- Antisynthetase syndrome (ORPHA:81)
- Aspartylglucosaminuria (ORPHA:93)
- Autoimmune hepatitis (ORPHA:2137)
- Autoimmune lymphoproliferative syndrome (ORPHA:3261)
- Autosomal dominant spastic paraplegia type 36 (ORPHA:320365)
- Autosomal non-syndromic agammaglobulinemia (ORPHA:33110)
- Bacterial toxic-shock syndrome (ORPHA:36234)
- Behçet disease (ORPHA:117)
- Blau syndrome (ORPHA:90340)
- Brucellosis (ORPHA:1304)
- Cat-scratch disease (ORPHA:50839)
- Catastrophic antiphospholipid syndrome (ORPHA:464343)
- Chikungunya (ORPHA:324625)
- Choreoacanthocytosis (ORPHA:2388)
- Chronic graft versus host disease (ORPHA:99921)
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis (ORPHA:324964)
- Coccidioidomycosis (ORPHA:228123)
- Combined immunodeficiency with facio-oculo-skeletal anomalies (ORPHA:221139)
- Congenital atransferrinemia (ORPHA:1195)
- Congenital tufting enteropathy (ORPHA:92050)
- Cranio-osteoarthropathy (ORPHA:1525)
- Cryoglobulinemic vasculitis (ORPHA:91138)
- Dermatomyositis (ORPHA:221)
- Diffuse cutaneous systemic sclerosis (ORPHA:220393)
- Dowling-Degos disease (ORPHA:79145)
- Dracunculiasis (ORPHA:231)
- Eng-Strom syndrome (ORPHA:1937)
- Enthesitis-related juvenile idiopathic arthritis (ORPHA:85438)
- Eosinophilic fasciitis (ORPHA:3165)
- Eosinophilic granulomatosis with polyangiitis (ORPHA:183)
- Fabry disease (ORPHA:324)
- Familial calcium pyrophosphate deposition (ORPHA:1416)
- Familial cold urticaria (ORPHA:47045)
- Familial Mediterranean fever (ORPHA:342)
- Farber disease (ORPHA:333)
- Felty syndrome (ORPHA:47612)
- Fusariosis (ORPHA:228119)
- Generalized pustular psoriasis (ORPHA:247353)
- Giant cell arteritis (ORPHA:397)
- Graft versus host disease (ORPHA:39812)
- Granulomatosis with polyangiitis (ORPHA:900)
- HNF1B-related autosomal dominant tubulointerstitial kidney disease (ORPHA:93111)
- Hyperimmunoglobulinemia D with periodic fever (ORPHA:343)
- Hypocomplementemic urticarial vasculitis (ORPHA:36412)
- Idiopathic hypereosinophilic syndrome (ORPHA:3260)
- Idiopathic non-lupus full-house nephropathy (ORPHA:567544)
- Immunoglobulin A vasculitis (ORPHA:761)
- Juvenile dermatomyositis (ORPHA:93672)
- Kawasaki disease (ORPHA:2331)
- KID syndrome (ORPHA:477)
- Lacrimoauriculodentodigital syndrome (ORPHA:2363)
- Localized scleroderma (ORPHA:90289)
- Lyme disease (ORPHA:91546)
- Marburg hemorrhagic fever (ORPHA:99826)
- Melorheostosis (ORPHA:2485)
- Microscopic polyangiitis (ORPHA:727)
- Mild phosphoribosylpyrophosphate synthetase superactivity (ORPHA:411536)
- Mixed connective tissue disease (ORPHA:809)
- Muckle-Wells syndrome (ORPHA:575)
- Mueller-Weiss syndrome (ORPHA:566943)
- Multicentric osteolysis-nodulosis-arthropathy spectrum (ORPHA:371428)
- Multicentric reticulohistiocytosis (ORPHA:139436)
- Multiple osteochondromas (ORPHA:321)
- Myalgia-eosinophilia syndrome associated with tryptophan (ORPHA:2582)
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome (ORPHA:397744)
- Nail-patella syndrome (ORPHA:2614)
- Non-syndromic agammaglobulinemia (ORPHA:229717)
- Oculocerebrorenal syndrome of Lowe (ORPHA:534)
- Oligoarticular juvenile idiopathic arthritis (ORPHA:85410)
- Osteochondrosis of the metatarsal bone (ORPHA:564003)
- Osteochondrosis of the tarsal bone (ORPHA:563991)
- Overlap myositis (ORPHA:206572)
- Pachydermoperiostosis (ORPHA:2796)
- PAPA syndrome (ORPHA:69126)
- Pediatric systemic lupus erythematosus (ORPHA:93552)
- PFAPA syndrome (ORPHA:42642)
- Plague (ORPHA:707)
- Polymyositis (ORPHA:732)
- Postinfectious vasculitis (ORPHA:48435)
- Primary Sjögren disease (ORPHA:289390)
- Psoriasis-related juvenile idiopathic arthritis (ORPHA:85436)
- Rat-bite fever (ORPHA:31205)
- Reactive arthritis (ORPHA:29207)
- Recurrent infections associated with rare immunoglobulin isotypes deficiency (ORPHA:183675)
- Relapsing polychondritis (ORPHA:728)
- Reynolds syndrome (ORPHA:779)
- Rheumatic fever (ORPHA:3099)
- Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis (ORPHA:85408)
- Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis (ORPHA:85435)
- RIDDLE syndrome (ORPHA:420741)
- SAPHO syndrome (ORPHA:793)
- Sarcoidosis (ORPHA:797)
- Schnitzler syndrome (ORPHA:37748)
- Severe phosphoribosylpyrophosphate synthetase superactivity (ORPHA:411543)
- Shigellosis (ORPHA:810)
- Simple cryoglobulinemia (ORPHA:91139)
- Spondyloenchondrodysplasia (ORPHA:1855)
- Symptomatic form of HFE-related hemochromatosis (ORPHA:465508)
- Systemic lupus erythematosus (ORPHA:536)
- Systemic sclerosis (ORPHA:90291)
- Systemic-onset juvenile idiopathic arthritis (ORPHA:85414)
- Takayasu arteritis (ORPHA:3287)
- Tenosynovial giant cell tumor (ORPHA:66627)
- Tetrasomy 9p syndrome (ORPHA:3310)
- Tumor necrosis factor receptor 1 associated periodic syndrome (ORPHA:32960)
- Whipple disease (ORPHA:3452)
- Wild type ABeta2M amyloidosis (ORPHA:85446)
- Wilson disease (ORPHA:905)
- Wiskott-Aldrich syndrome (ORPHA:906)
- X-linked agammaglobulinemia (ORPHA:47)
- X-linked hypophosphatemia (ORPHA:89936)
- X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
- Zika virus disease (ORPHA:448237)