Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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cerebellar ataxia, mental retardation and dysequlibrium syndrome |
CAMRQ
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An autosomal recessive cerebellar ataxia that is c..[+]
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C1 inhibitor deficiency |
Quincke edema
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A complement deficiency that is a functional defic..[+]
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CD3zeta deficiency |
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A severe combined immunodeficiency that affects th..[+]
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CD45 deficiency |
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A severe combined immunodeficiency that is an auto..[+]
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CD3delta deficiency |
CD3D
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A severe combined immunodeficiency that is charact..[+]
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CD3epsilon deficiency |
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A severe combined immunodeficiency that is an auto..[+]
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CD3gamma deficiency |
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A severe combined immunodeficiency an autosomal re..[+]
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coronin-1A deficiency |
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A severe combined immunodeficiency that is an acti..[+]
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CD40 ligand deficiency |
HIGMX-1; X-linked hyper-IgM syndrome
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A combined T cell and B cell immunodeficiency that..[+]
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CD40 deficiency |
hyper-IgM syndrome due to CD40 deficiency; immunod..
[+]
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A combined T cell and B cell immunodeficiency that..[+]
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cell type benign neoplasm |
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A benign neoplasm that is classified by the type o..[+]
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central nervous system benign neoplasm |
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A nervous system benign neoplasm that is character..[+]
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cardiovascular organ benign neoplasm |
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An organ system benign neoplasm disease located_in..[+]
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cartilage cancer |
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A connective tissue tumor that can be a benign cho..[+]
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central nervous system primitive neuroectodermal neoplasm |
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n_a
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cerebellar medulloblastoma |
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A cerebellum cancer that begins in the lower part ..[+]
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cervical benign neoplasm |
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n_a
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connective tissue benign neoplasm |
neoplasm of soft tissue; neoplasm of soft tissues; ..
[+]
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A musculoskeletal system benign neoplasm that is l..[+]
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color agnosia |
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An agnosia that is a loss of the ability to recogn..[+]
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cortical deafness |
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An agnosia that is a loss of the ability to percei..[+]
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childhood spinal muscular atrophy |
spinal muscular atrophies of childhood; survival m..
[+]
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A spinal muscular atrophy that is associated with ..[+]
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colitis |
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An inflammatory bowel disease that involves inflam..[+]
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collagenous colitis |
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A colitis characterized by a distinctive thickenin..[+]
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Clostridium difficile colitis |
Pseudomembranous colitis
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A colitis characterized by an overgrowth of Clostr..[+]
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chemical colitis |
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A colitis caused_by introduction of various chemic..[+]
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Crohn's colitis |
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An inflammatory bowel disease characterized by inf..[+]
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Cogan syndrome |
Cogan's syndrome; diffuse interstitual keratitis
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An eye disease characterized by nonsyphilitic inte..[+]
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Cogan-Reese syndrome |
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An eye disease characterized by variable iris atro..[+]
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CREST syndrome |
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A syndrome characterized by calcinosis, Raynaud's ..[+]
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cardiofaciocutaneous syndrome |
CFC syndrome; cardio-facial-cutaneous syndrome
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A RASopathy characterized by unusually sparse, bri..[+]
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Carpenter syndrome |
acrocephalopolysyndactyly type II
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An acrocephalosyndactylia characterized by cranios..[+]
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carnitine palmitoyltransferase II deficiency |
CPT-II; infantile carnitine palmitoyltransferase I..
[+]
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A lipid metabolism disorder characterized by an en..[+]
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congenital ptosis |
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A ptosis characterized by eyelid drop present at b..[+]
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combined oxidative phosphorylation deficiency |
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n_a
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cornea plana |
flat cornea
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n_a
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cold-induced sweating syndrome |
Crisponi syndrome; Sohar-Crisponi syndrome
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An autosomal dominant disease characterized by pro..[+]
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complement component 2 deficiency |
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A complement deficiency that is characterized by r..[+]
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congenital secretory chloride diarrhea 1 |
A secretory diarrhea that has material basis in mu..[+]
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complement component 4a deficiency |
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A complement deficiency that is characterized by r..[+]
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complement component 4b deficiency |
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n_a
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complement component 6 deficiency |
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n_a
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complement component 7 deficiency |
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n_a
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complement component 9 deficiency |
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n_a
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cardiac arrest |
circulatory arrest; cardiopulmonary arrest
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A congestive heart failure characterized by a sudd..[+]
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cervical polyp |
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A cervix disease characterized by a benign polyp o..[+]
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CEDNIK syndrome |
cerebral dysgenesis, neuropathy, ichthyosis and ke..
[+]
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An autosomal recessive disease that has material b..[+]
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chronic atrial and intestinal dysrhythmia |
CAID syndrome
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A syndrome characterized by a unique combination o..[+]
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ciliopathy |
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A genetic disease associated with mutations encodi..[+]
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chylomicron retention disease |
CMRD; Anderson disease
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A lipid metabolism disorder characterized by malnu..[+]
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Chilblain lupus |
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A cutaneous form of systemic lupus erythermatosus ..[+]
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