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Rare Disease Database
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C Syndrome
C3 Glomerulopathy: Dense Deposit Disease and C3 Glomerulonephritis
CADASIL
Campomelic Syndrome
Camurati-Engelmann Disease
Canavan Disease
Candidiasis
CARASIL
Carbamoyl Phosphate Synthetase I Deficiency
Carcinoid Syndrome
CARD9 Deficiency
Cardiofaciocutaneous Syndrome
Carney Complex
Carnitine Palmitoyltransferase 1A Deficiency
Carnosinemia
Caroli Disease
Carpenter Syndrome
Castleman Disease
Cat Eye Syndrome
Catamenial Pneumothorax
Catel Manzke Syndrome
Caudal Regression Syndrome
Cavernous Malformation
CDKL5
Central Core Disease
Central Diabetes Insipidus
Central Pain Syndrome
Centronuclear Myopathy
Cerebellar Agenesis
Cerebellar Degeneration, Subacute
Cerebral Creatine Deficiency Syndromes
Cerebral Folate Deficiency
Cerebral Palsy
Cerebro Oculo Facio Skeletal Syndrome
Cerebrocostomandibular Syndrome
Cerebrotendinous Xanthomatosis
Cervical Dystonia
Cervical Teratoma
Chanarin-Dorfman Syndrome
Chandler’s Syndrome
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Chediak Higashi Syndrome
Chiari Frommel Syndrome
Chiari Malformations
Chikungunya
Chilaiditi’s Syndrome
Cholangiocarcinoma
Cholera
Cholesteryl Ester Storage Disease
Chondrocalcinosis 2
Chordoma
Choroideremia
Choroiditis, Serpiginous
Chromosome 10, Distal Trisomy 10q
Chromosome 10, Monosomy 10p
Chromosome 11, Partial Monosomy 11q
Chromosome 11, Partial Trisomy 11q
Chromosome 13, Partial Monosomy 13q
Chromosome 14 Ring
Chromosome 14, Trisomy Mosaic
Chromosome 15 Ring
Chromosome 15, Distal Trisomy 15q
Chromosome 18 Ring
Chromosome 18, Monosomy 18p
Chromosome 18, Tetrasomy 18p
Chromosome 18q- Syndrome
Chromosome 21 Ring
Chromosome 22 Ring
Chromosome 22q11.2 Deletion Syndrome
Chromosome 3, Monosomy 3p
Chromosome 3, Trisomy 3q2
Chromosome 4, Monosomy Distal 4q
Chromosome 4, Partial Trisomy Distal 4q
Chromosome 4, Trisomy 4p
Chromosome 4q Deletion
Chromosome 5, Trisomy 5p
Chromosome 6 Ring
Chromosome 6, Partial Trisomy 6q
Chromosome 7, Partial Monosomy 7p
Chromosome 8, Monosomy 8p
Chromosome 9 Ring
Chromosome 9, Partial Monosomy 9p
Chromosome 9, Tetrasomy 9p
Chronic Eosinophilic Pneumonia
Chronic Granulomatous Disease
Chronic Inflammatory Demyelinating Polyneuropathy
Chronic Intestinal Pseudo-Obstruction
Chronic Lymphocytic Leukemia
Chronic Myelogenous Leukemia
Churg Strauss Syndrome
Cicatricial Alopecia
Ciguatera Fish Poisoning
Citrullinemia Type 1
Classic Hereditary Hemochromatosis
Classic Infantile CLN1 Disease
Cleidocranial Dysplasia
Clostridial Myonecrosis
CLOVES Syndrome
Cluster Headache
Coats Disease
Cockayne Syndrome
Coffin Lowry Syndrome
Coffin Siris Syndrome
Cogan Reese Syndrome
Cohen Syndrome
COL4A1/A2-Related Disorders
Collagen Type VI-Related Disorders
Colorado Tick Fever
Common Variable Immune Deficiency
Complete DiGeorge Syndrome
Complex Regional Pain Syndrome
Cone Dystrophy
Congenital Adrenal Hyperplasia
Congenital Afibrinogenemia
Congenital Bilateral Perisylvian Syndrome
Congenital Central Hypoventilation Syndrome
Congenital Contractural Arachnodactyly
Congenital Disorders of Glycosylation
Congenital Erythropoietic Porphyria
Congenital Fiber Type Disproportion
Congenital Fibrosis of the Extraocular Muscles
Congenital Generalized Lipodystrophy
Congenital Hepatic Fibrosis
Congenital Hyperinsulinism
Congenital Lactic Acidosis
Congenital Muscular Dystrophy
Congenital Myasthenic Syndromes
Congenital Plasminogen Deficiency
Congenital Pulmonary Lymphangiectasia
Congenital Sucrase-Isomaltase Deficiency
Congenital Syphilis
Congenital Varicella Syndrome
Conradi Hünermann Syndrome
COPA Syndrome
Cor Triatriatum
Corneal Dystrophies
Cornelia de Lange Syndrome
Corticobasal Degeneration
Costello Syndrome
Craniofrontonasal Dysplasia
Craniometaphyseal Dysplasia
Craniopharyngioma
Creatine Transporter Deficiency
Creutzfeldt Jakob Disease
Cri du Chat Syndrome
Crigler Najjar Syndrome
Cronkhite-Canada Syndrome
Crouzon Syndrome
Cryptococcosis
Cushing Syndrome
Cutaneous T-Cell Lymphomas
Cutaneous Vasculitis
Cutis Laxa
Cutis Marmorata Telangiectatica Congenita
Cyclic Neutropenia
Cyclic Vomiting Syndrome
Cystic Fibrosis
Cysticercosis
Cystinosis
Cystinuria
Cytochrome C Oxidase Deficiency
Cytomegalovirus Infection
