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Disease Synonyms Description Articles Phenotypes
CINCA Syndrome
chronic infantile neurological cutaneous articular.. [+]
An autoimmune disease characterized by neonatal on..[+]
CK syndrome
X-linked intellectual disability-microcephaly-cort.. [+]
A lipid metabolism disorder characterized by incre..[+]
CLOVES syndrome
congenital lipomatous overgrowth, vascular malform.. [+]
A syndrome that is characterized by congenital lip..[+]
CNS neuroblastoma with FOXR2 activation
central nervous system neuroblastoma with FOXR2 ac.. [+]
A central nervous system neuroblastoma that is cha..[+]
COACH syndrome
cerebellar vermis hypo/aplasia, oligophrenia, cong.. [+]
A syndrome characterized by autosomal recessive in..[+]
CODAS syndrome
cerebro-oculo-dento-auriculo-skeletal syndrome; ce.. [+]
A syndrome characterized by developmental delay, a..[+]
COVID-19
2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infe.. [+]
A Coronavirus infectious disease that is character..[+]
COX deficiency, benign infantile mitochondrial myopathy
Isolated cytochrome C oxidase deficiency;
A cytochrome-c oxidase deficiency disease characte..[+]
COX deficiency, infantile mitochondrial myopathy
fatal infantile cytochrome C oxidase deficiency; f.. [+]
A cytochrome-c oxidase deficiency disease characte..[+]
CREST syndrome
A syndrome characterized by calcinosis, Raynaud's ..[+]
CSF1R-related brain malformation and osteopetrosis
osteoporosis and infantile neuroaxonal dystrophy;
A neuroaxonal dystrophy that has_material_basis_in..[+]
CST3-related cerebral amyloid angiopathy
Amyloidosis VI; Amyloidosis, Cerebroarterial, Icel.. [+]
A cerebral amyloid angiopathy that has_material_ba..[+]
Caffey disease
infantile cortical hyperostosis; cortical congenit.. [+]
A bone inflammation disease that causes bone chang..[+]
Camurati-Engelmann disease
Engelman's disease; progressive diaphyseal dysplas.. [+]
An osteosclerosis that has_material_basis_in mutat..[+]
Canavan disease
CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degen.. [+]
A leukodystrophy characterized by onset in early i..[+]
Capgras syndrome
Capgras delusion theory;
A delusional disorder in which a person holds a de..[+]
Caplan's syndrome
Caplan syndrome; Caplans syndrome; Rheumatoid pneu.. [+]
A pneumoconiosis that results_in humans that also ..[+]
Carey-Fineman-Ziter syndrome
A syndrome characterized by hypotonia, Moebius seq..[+]
Carney complex
Carney Complex, Type 2; Carney Syndrome; NAME Synd.. [+]
A syndrome characterized by myxomas, spotty pigmen..[+]
Carney-Stratakis syndrome
A syndrome that is characterized by the presence o..[+]
Caroli disease
A bile duct disease that is characterized by abnor..[+]
Caroli syndrome
A syndrome that is characterized by the presence o..[+]
Carpenter syndrome
acrocephalopolysyndactyly type II;
An acrocephalosyndactylia characterized by cranios..[+]
Carrion's disease
Carrion disease; Oroya fever;
A bartonellosis that results_in infection located_..[+]
Carvajal syndrome
Carvajal syndrome; palmoplantar keratoderma with l.. [+]
A Naxos disease that is characterized by dilated c..[+]
Castleman disease
angiofollicular lymph hyperplasia; angiofollicular.. [+]
A lymphoproliferative syndrome characterized by on..[+]
Catel Manzke syndrome
Hyperphalangy-clinodactyly of index finger with Pi.. [+]
A bone disease that is characterized by the Pierre..[+]
Cauda equina syndrome
A peripheral nervous system disease that involves ..[+]
Cayman type cerebellar ataxia
Cayman cerebellar ataxia;
An autosomal recessive cerebellar ataxia character..[+]
Cenani-Lenz syndactyly syndrome
syndactyly type 7;
A dysostosis characterized by syndactyly, malforma..[+]
Chagas disease
Chagas' disease; chagas' disease with other organ .. [+]
A trypanosomiasis that is a tropical parasitic dis..[+]
Chanarin-Dorfman syndrome
Chanarin-Dorfman syndrome; neutral lipid storage d.. [+]
A lipid storage disease that is characterized by a..[+]
Chandler syndrome
Chandler's syndrome (disorder); Dystrophy of corne.. [+]
A corneal dystrophy that is characterized by corne..[+]
Chapare hemorrhagic fever
A viral infectious disease that is a hemorrhagic f..[+]
Char syndrome
A patent ductus arteriosus with facial dysmorphism..[+]
Charcot-Marie-Tooth disease
Charcot Marie Tooth muscular atrophy; CMT - Charco.. [+]
A neuromuscular disease that is characterized by a..[+]
7 articles
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth neuropathy X-linked dominant 1.. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
1 articles
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth neuropathy X-linked dominant 6.. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked recessive 2
Charcot-Marie-Tooth neuropathy X-linked recessive .. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked recessive 3
Charcot-Marie-Tooth neuropathy X-linked recessive .. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked recessive 4
axonal motor sensory neuropathy with deafness and .. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth neuropathy X-linked recessive .. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease axonal type 2C
autosomal dominant Charcot-Marie-Tooth disease typ.. [+]
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
Charcot-Marie-Tooth disease axonal type 2CC
CMT2CC; Charcot-Marie-Tooth neuropathy type 2CC;
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
Charcot-Marie-Tooth disease axonal type 2F
autosomal dominant Charcot-Marie-Tooth disease typ.. [+]
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
Charcot-Marie-Tooth disease axonal type 2H
AR-CMT2C; autosomal recessive axonal Charcot-Marie.. [+]
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
Charcot-Marie-Tooth disease axonal type 2K
ARCMT2K; autosomal recessive axonal Charcot-Marie-.. [+]
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
Charcot-Marie-Tooth disease axonal type 2L
autosomal dominant axonal Charcot-Marie-Tooth dise.. [+]
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
Charcot-Marie-Tooth disease axonal type 2N
autosomal dominant axonal Charcot-Marie-Tooth dise.. [+]
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]
Charcot-Marie-Tooth disease axonal type 2O
autosomal dominant axonal Charcot-Marie-Tooth dise.. [+]
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]

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