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Results 351 - 400 of 9745 results

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Disease                  Synonyms                  Description
Charcot-Marie-Tooth disease type 4
hereditary motor and sensory neuropathy;
A Charcot-Marie-Tooth disease characterized by demyelinating..[+]
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth neuropathy type 4A; CMT4A; autosomal rec.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4B1
autosomal recessive Charcot-Marie-Tooth disease with focally.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4B2
autosomal recessive Charcot-Marie-Tooth disease with focally.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4B3
CMT4B3;
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4C
autosomal recessive demyelinating Charcot-Marie-Tooth diseas.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4D
autosomal recessive demyelinating Charcot-Marie-Tooth diseas.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4E
autosomal recessive congenital hypomyelinating or amyelinati.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4F
CMT4F;
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4G
autosomal recessive Charcot-Marie-Tooth disease type 4G; CMT.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4H
autosomal recessive demyelinating Charcot-Marie-Tooth diseas.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4J
autosomal recessive Charcot-Marie-Tooth disease type 4J; CMT.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 4K
autosomal recessive demyelinating Charcot-Marie-Tooth diseas.. [+]
A Charcot-Marie-Tooth disease type 4 that has_material_basis..[+]
Charcot-Marie-Tooth disease type 5
hereditary motor and sensory neuropathy with pyramidal featu.. [+]
A Charcot-Marie-Tooth disease that is characterized by pyram..[+]
Charcot-Marie-Tooth disease type 6
hereditary motor and sensory neuropathy type 6;
A Charcot-Marie-Tooth disease that is characterized by early..[+]
Charcot-Marie-Tooth disease type 7
A Charcot-Marie-Tooth disease that is characterized by optic..[+]
Charcot-Marie-Tooth disease type X
Cowchock syndrome; COWCK;
A Charcot-Marie-Tooth disease that has_material_basis_in X-l..[+]
Charcot-Marie-Tooth disease, axonal type 2W
autosomal dominant axonal Charcot-Marie-Tooth disease type 2.. [+]
A Charcot-Marie-Tooth disease type 2 that has_material_basis..[+]
Charlevoix-Saguenay spastic ataxia
n_a
Chediak-Higashi syndrome
CHS; Chediak - Steinbrinck anomaly;
A syndrome characterized by oculocutaneous albinism, immune ..[+]
Chilblain lupus
A cutaneous form of systemic lupus erythermatosus that is ch..[+]
Christianson syndrome
mental retardation, X-linked syndromic, Christianson type; M.. [+]
A syndromic X-linked intellectual disability characterized b..[+]
Churg-Strauss syndrome
Allergic granulomatosis angiitis (disorder); Allergic granul.. [+]
A vasculitits that is systemic vasculitis realized as blood ..[+]
Clostridium difficile colitis
Pseudomembranous colitis;
A colitis characterized by an overgrowth of Clostridium diff..[+]
Clouston syndrome
Clouston's hidrotic ectodermal dysplasia ; Clouston's syndro.. [+]
n_a
Coats disease
Coats' disease; Coats' syndrome; Exudative retinopathy;
n_a
Cockayne syndrome
Neill-Dingwall syndrome; Cockayne's syndrome;
A syndrome that has_material_basis_in rare mutations in two ..[+]
Coffin-Lowry syndrome
Coffin-Lowry syndrome (disorder);
A syndrome that is characterized by skeletal malformations, ..[+]
Coffin-Siris syndrome
Fifth Digit Syndrome; Short Stature-Onychodysplasia.; Dwarfi.. [+]
An autosomal dominant non-syndromic intellectual disability ..[+]
Coffin-Siris syndrome 1
autosomal dominant mental retardation 12; CSS1; fifth digit .. [+]
An autosomal dominant non-syndromic intellectual disability ..[+]
Coffin-Siris syndrome 2
autosomal dominant mental retardation 14; CSS2; MRD14;
An autosomal dominant non-syndromic intellectual disability ..[+]
Coffin-Siris syndrome 3
autosomal dominant mental retardation 15; CSS3; MRD15;
An autosomal dominant non-syndromic intellectual disability ..[+]
Coffin-Siris syndrome 4
autosomal dominant mental retardation 16; CSS4; MRD16;
An autosomal dominant non-syndromic intellectual disability ..[+]
Cogan syndrome
Cogan's syndrome; diffuse interstitual keratitis;
An eye disease characterized by nonsyphilitic interstitial k..[+]
Cogan-Reese syndrome
An eye disease characterized by variable iris atrophy, pigme..[+]
Cohen syndrome
COH1; Hypotonia, obesity, and prominent incisors; Pepper syn.. [+]
A syndrome characterized by facial dysmorphism, microcephaly..[+]
Cole-Carpenter syndrome
An osteogenesis imperfecta characterized by craniosynostosis..[+]
Colorado tick fever
Tick fever, American mountain;
A viral infectious disease that results_in infection, has_ma..[+]
Compton-North congenital myopathy
A congenital myopathy that has_material_basis_in homozygous ..[+]
Conn's syndrome
Conn syndrome; primary hyperaldosteronism; primary aldostero.. [+]
An adrenal adenoma characterized by the over production of a..[+]
Cor pulmonale
pulmonary heart disease; cardiopulmonary disease;
A congestive heart failure that involves a failure of the ri..[+]
Cornelia de Lange syndrome
De Lange syndrome; Brachmann de Lange syndrome;
A syndrome that is characterized by slow growth before and a..[+]
Cornelia de Lange syndrome 4
CDLS4; Cornelia De Lange syndrome 4 with or without midline .. [+]
A Cornelia de Lange syndrome that has_material_basis_in hete..[+]
Coronavirus infectious disease
A viral infectious disease that has_material_basis_in Corona..[+]
Costello syndrome
Faciocutaneoskeletal Syndrome; FCS SYNDROME;
A RASopathy characterized by craniofacial dysmorphology, car..[+]
Cowden syndrome
Lhermitte-Duclos disease (disorder); multiple hamartoma synd.. [+]
A syndrome characterized by multiple noncancerous, tumor-lik..[+]
Cowper gland carcinoma
A male reproductive organ cancer that has_material_basis_in ..[+]
Creutzfeldt-Jakob disease
CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob syndrome;.. [+]
n_a
Cri-Du-Chat syndrome
5p deletion syndrome; chromosome 5 short arm deletion syndro.. [+]
A syndrome that has_material_basis_in deletion of the end of..[+]
Crigler-Najjar syndrome
Bilirubin UDP glucuronyl transferase deficiency; Crigler Naj.. [+]
A bilirubin metabolic disorder that involves a build up of b..[+]

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