Search Diseases
Results 251 - 300 of 9429 results
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Disease | Synonyms | Description |
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CD3epsilon deficiency |
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A severe combined immunodeficiency that is an autosomal rece..[+]
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CD3gamma deficiency |
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A severe combined immunodeficiency an autosomal recessive im..[+]
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CD3zeta deficiency |
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A severe combined immunodeficiency that affects the developm..[+]
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CD40 deficiency |
hyper-IgM syndrome due to CD40 deficiency; immunodeficiency ..
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A combined T cell and B cell immunodeficiency that has mater..[+]
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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 is a X-li..[+]
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CD45 deficiency |
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A severe combined immunodeficiency that is an autosomal rece..[+]
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CEDNIK syndrome |
cerebral dysgenesis, neuropathy, ichthyosis and keratoderma ..
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A syndrome that has_material_basis_in homozygous mutation in..[+]
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CHARGE syndrome |
CHARGE association;
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A syndrome that is acterized by a pattern of congenital anom..[+]
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CHILD syndrome |
CHILD nevus; congenital hemidysplasia with ichthyosiform nev..
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A syndrome characterized by congenital hemidysplasia, ichyth..[+]
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CINCA Syndrome |
chronic infantile neurological cutaneous articular syndrome;..
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A hypersensitivity reaction type II disease characterized by..[+]
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CK syndrome |
X-linked intellectual disability-microcephaly-cortical malfo..
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A lipid metabolism disorder characterized by increased methy..[+]
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CLL/SLL |
chronic lymphocytic leukemia/small lymphocytic lymphoma; chr..
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A chronic lymphocytic leukemia that is characterized by the ..[+]
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COACH syndrome |
cerebellar vermis hypo/aplasia, oligophrenia, congenital ata..
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A syndrome characterized by autosomal recessive inheritance ..[+]
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CODAS syndrome |
cerebral, ocular, dental, auricular, and skeletal syndrome; ..
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A syndrome characterized by developmental delay, and cerebra..[+]
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COL4A1-related familial vascular leukoencephalopathy |
brain small vessel disease with Axenfeld-Riegar anomaly; bra..
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A brain disease characterized by autosomal dominant inherita..[+]
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COVID-19 |
2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; Wuh..
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A Coronavirus infection that is characterized by fever, coug..[+]
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CREST syndrome |
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A syndrome characterized by calcinosis, Raynaud's phenomeno,..[+]
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CSF1R-related brain malformation and osteopetrosis |
osteoporosis and infantile neuroaxonal dystrophy;
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A neuroaxonal dystrophy that has_material_basis in heterozyg..[+]
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CST3-related cerebral amyloid angiopathy |
Amyloidosis VI; Amyloidosis, Cerebroarterial, Icelandic Type..
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A cerebral amyloid angiopathy that has_material_basis_in an ..[+]
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Caffey disease |
infantile cortical hyperostosis; cortical congenital hyperos..
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A bone inflammation disease that causes bone changes, soft t..[+]
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Camurati-Engelmann disease |
Engelman's disease; progressive diaphyseal dysplasia; Diaphy..
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An osteosclerosis that has_material_basis_in mutations in th..[+]
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Canavan disease |
CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degeneration of..
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n_a
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Capgras syndrome |
Capgras delusion theory;
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A delusional disorder in which a person holds a delusion tha..[+]
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Caplan's syndrome |
Caplan syndrome; Caplans syndrome; Rheumatoid pneumoconiosis..
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A pneumoconiosis that results_in humans that also have rheum..[+]
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Carey-Fineman-Ziter syndrome |
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A syndrome characterized by hypotonia, Moebius sequence (bil..[+]
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Carney complex |
Carney Complex, Type 2; Carney Syndrome; NAME Syndrome; Carn..
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A syndrome characterized by myxomas, spotty pigmentation of ..[+]
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Caroli disease |
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A bile duct disease that is characterized by abnormal dilata..[+]
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Carpenter syndrome |
acrocephalopolysyndactyly type II;
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An acrocephalosyndactylia characterized by craniosynostosis,..[+]
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Carrion's disease |
Carrion disease; Oroya fever;
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A bartonellosis that results_in infection located_in endothe..[+]
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Castleman disease |
angiofollicular lymph hyperplasia; angiofollicular lymph nod..
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A lymphoproliferative syndrome characterized by one or more ..[+]
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Cauda equina syndrome |
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A peripheral nervous system disease that involves an acute l..[+]
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Cayman type cerebellar ataxia |
Cayman cerebellar ataxia;
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An autosomal recessive cerebellar ataxia characterized by ma..[+]
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Cenani-Lenz syndactyly syndrome |
syndactyly type 7;
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A dysostosis characterized by syndactyly, malformation of th..[+]
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Chagas disease |
Chagas' disease; chagas' disease with nervous system involve..
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A trypanosomiasis that is a tropical parasitic disease cause..[+]
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Chandler syndrome |
Chandler's syndrome (disorder); Dystrophy of corneal endothe..
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A corneal dystrophy that is characterized by corneal edema, ..[+]
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Chapare hemorrhagic fever |
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A viral infectious disease that is a hemorrhagic fever, has_..[+]
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Char syndrome |
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A patent ductus arteriosus with facial dysmorphism and abnor..[+]
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Charcot-Marie-Tooth disease |
Charcot Marie Tooth muscular atrophy; CMT - Charcot-Marie-To..
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A neuromuscular disease that is characterized by a slowly pr..[+]
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Charcot-Marie-Tooth disease X-linked dominant 1 |
Charcot-Marie-Tooth neuropathy X-linked dominant 1; CMT1X; C..
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A Charcot-Marie-Tooth disease X-linked that has_material_bas..[+]
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Charcot-Marie-Tooth disease X-linked dominant 6 |
Charcot-Marie-Tooth neuropathy X-linked dominant 6; CMT6X; C..
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A Charcot-Marie-Tooth disease X-linked that has_material_bas..[+]
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Charcot-Marie-Tooth disease X-linked recessive 2 |
Charcot-Marie-Tooth neuropathy X-linked recessive 2; X-linke..
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A Charcot-Marie-Tooth disease X-linked that has_material_bas..[+]
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Charcot-Marie-Tooth disease X-linked recessive 3 |
Charcot-Marie-Tooth neuropathy X-linked recessive 3; CMT3X; ..
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A Charcot-Marie-Tooth disease X-linked that has_material_bas..[+]
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Charcot-Marie-Tooth disease X-linked recessive 4 |
axonal motor sensory neuropathy with deafness and mental ret..
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A Charcot-Marie-Tooth disease X-linked that has_material_bas..[+]
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Charcot-Marie-Tooth disease X-linked recessive 5 |
Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; ..
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A Charcot-Marie-Tooth disease X-linked that has_material_bas..[+]
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Charcot-Marie-Tooth disease axonal type 2C |
autosomal dominant Charcot-Marie-Tooth disease type 2C; Char..
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A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+]
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Charcot-Marie-Tooth disease axonal type 2CC |
CMT2CC; Charcot-Marie-Tooth neuropathy type 2CC;
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A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+]
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Charcot-Marie-Tooth disease axonal type 2F |
autosomal dominant Charcot-Marie-Tooth disease type 2F; Char..
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A Charcot-Marie-Tooth disease type 2 that has_material_basi..[+]
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Charcot-Marie-Tooth disease axonal type 2H |
AR-CMT2C; autosomal recessive axonal Charcot-Marie-Tooth dis..
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A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+]
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Charcot-Marie-Tooth disease axonal type 2K |
ARCMT2K; autosomal recessive axonal Charcot-Marie-Tooth dise..
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A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+]
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Charcot-Marie-Tooth disease axonal type 2L |
autosomal dominant axonal Charcot-Marie-Tooth disease type 2..
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A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+]
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