Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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CINCA Syndrome |
chronic infantile neurological cutaneous articular..
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An autoimmune disease characterized by neonatal on..[+]
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CK syndrome |
X-linked intellectual disability-microcephaly-cort..
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A lipid metabolism disorder characterized by incre..[+]
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CLOVES syndrome |
congenital lipomatous overgrowth, vascular malform..
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A syndrome that is characterized by congenital lip..[+]
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CNS neuroblastoma with FOXR2 activation |
central nervous system neuroblastoma with FOXR2 ac..
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A central nervous system neuroblastoma that is cha..[+]
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COACH syndrome |
cerebellar vermis hypo/aplasia, oligophrenia, cong..
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A syndrome characterized by autosomal recessive in..[+]
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CODAS syndrome |
cerebro-oculo-dento-auriculo-skeletal syndrome; ce..
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A syndrome characterized by developmental delay, a..[+]
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COVID-19 |
2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infe..
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A Coronavirus infectious disease that is character..[+]
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COX deficiency, benign infantile mitochondrial myopathy |
Isolated cytochrome C oxidase deficiency;
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A cytochrome-c oxidase deficiency disease characte..[+]
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COX deficiency, infantile mitochondrial myopathy |
fatal infantile cytochrome C oxidase deficiency; f..
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A cytochrome-c oxidase deficiency disease characte..[+]
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CREST syndrome |
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A syndrome characterized by calcinosis, Raynaud's ..[+]
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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..[+]
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CST3-related cerebral amyloid angiopathy |
Amyloidosis VI; Amyloidosis, Cerebroarterial, Icel..
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A cerebral amyloid angiopathy that has_material_ba..[+]
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Caffey disease |
infantile cortical hyperostosis; cortical congenit..
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A bone inflammation disease that causes bone chang..[+]
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Camurati-Engelmann disease |
Engelman's disease; progressive diaphyseal dysplas..
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An osteosclerosis that has_material_basis_in mutat..[+]
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Canavan disease |
CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degen..
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A leukodystrophy characterized by onset in early i..[+]
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Capgras syndrome |
Capgras delusion theory;
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A delusional disorder in which a person holds a de..[+]
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Caplan's syndrome |
Caplan syndrome; Caplans syndrome; Rheumatoid pneu..
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A pneumoconiosis that results_in humans that also ..[+]
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Carey-Fineman-Ziter syndrome |
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A syndrome characterized by hypotonia, Moebius seq..[+]
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Carney complex |
Carney Complex, Type 2; Carney Syndrome; NAME Synd..
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A syndrome characterized by myxomas, spotty pigmen..[+]
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Carney-Stratakis syndrome |
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A syndrome that is characterized by the presence o..[+]
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Caroli disease |
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A bile duct disease that is characterized by abnor..[+]
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Caroli syndrome |
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A syndrome that is characterized by the presence o..[+]
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Carpenter syndrome |
acrocephalopolysyndactyly type II;
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An acrocephalosyndactylia characterized by cranios..[+]
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Carrion's disease |
Carrion disease; Oroya fever;
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A bartonellosis that results_in infection located_..[+]
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Carvajal syndrome |
Carvajal syndrome; palmoplantar keratoderma with l..
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A Naxos disease that is characterized by dilated c..[+]
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Castleman disease |
angiofollicular lymph hyperplasia; angiofollicular..
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A lymphoproliferative syndrome characterized by on..[+]
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Catel Manzke syndrome |
Hyperphalangy-clinodactyly of index finger with Pi..
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A bone disease that is characterized by the Pierre..[+]
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Cauda equina syndrome |
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A peripheral nervous system disease that involves ..[+]
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Cayman type cerebellar ataxia |
Cayman cerebellar ataxia;
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An autosomal recessive cerebellar ataxia character..[+]
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Cenani-Lenz syndactyly syndrome |
syndactyly type 7;
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A dysostosis characterized by syndactyly, malforma..[+]
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Chagas disease |
Chagas' disease; chagas' disease with other organ ..
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A trypanosomiasis that is a tropical parasitic dis..[+]
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Chanarin-Dorfman syndrome |
Chanarin-Dorfman syndrome; neutral lipid storage d..
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A lipid storage disease that is characterized by a..[+]
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Chandler syndrome |
Chandler's syndrome (disorder); Dystrophy of corne..
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A corneal dystrophy that is characterized by corne..[+]
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Chapare hemorrhagic fever |
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A viral infectious disease that is a hemorrhagic f..[+]
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Char syndrome |
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A patent ductus arteriosus with facial dysmorphism..[+]
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Charcot-Marie-Tooth disease |
Charcot Marie Tooth muscular atrophy; CMT - Charco..
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A neuromuscular disease that is characterized by a..[+]
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7 articles | |
Charcot-Marie-Tooth disease X-linked dominant 1 |
Charcot-Marie-Tooth neuropathy X-linked dominant 1..
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A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
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1 articles | |
Charcot-Marie-Tooth disease X-linked dominant 6 |
Charcot-Marie-Tooth neuropathy X-linked dominant 6..
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A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
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Charcot-Marie-Tooth disease X-linked recessive 2 |
Charcot-Marie-Tooth neuropathy X-linked recessive ..
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A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
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Charcot-Marie-Tooth disease X-linked recessive 3 |
Charcot-Marie-Tooth neuropathy X-linked recessive ..
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A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
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Charcot-Marie-Tooth disease X-linked recessive 4 |
axonal motor sensory neuropathy with deafness and ..
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A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
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Charcot-Marie-Tooth disease X-linked recessive 5 |
Charcot-Marie-Tooth neuropathy X-linked recessive ..
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A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
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Charcot-Marie-Tooth disease axonal type 2C |
autosomal dominant Charcot-Marie-Tooth disease typ..
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A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
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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_mate..[+]
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Charcot-Marie-Tooth disease axonal type 2F |
autosomal dominant Charcot-Marie-Tooth disease typ..
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A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
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Charcot-Marie-Tooth disease axonal type 2H |
AR-CMT2C; autosomal recessive axonal Charcot-Marie..
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A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
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Charcot-Marie-Tooth disease axonal type 2K |
ARCMT2K; autosomal recessive axonal Charcot-Marie-..
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A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
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Charcot-Marie-Tooth disease axonal type 2L |
autosomal dominant axonal Charcot-Marie-Tooth dise..
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A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
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Charcot-Marie-Tooth disease axonal type 2N |
autosomal dominant axonal Charcot-Marie-Tooth dise..
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A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
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Charcot-Marie-Tooth disease axonal type 2O |
autosomal dominant axonal Charcot-Marie-Tooth dise..
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A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
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