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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 Deficiency Disorder

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 Heart Block

Congenital Hepatic Fibrosis

Congenital Hyperinsulinism

Congenital Lactic Acidosis

Congenital Muscular Dystrophy

Congenital Myasthenic Syndromes

Congenital Myopathy

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

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