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Rare Disease Database

Search Results for: C

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C Syndrome

Also known as: Opitz trigonocephaly syndrome, trigonocephaly C syndrome, trigonocephaly syndrome, OTCS


Also known as: cerebral autosomal dominant arteriopathy w/subcortical infarcts & leukoencephalopathy, hereditary multi-infarct dementia

Campomelic Syndrome

Also known as: Acampomelic campomelic "Dysplasia", Campomelic Dwarfism, Campomelic Dysplasia, Campomelic Syndrome, Long-Limb Type, Camptomelic Dwarfism, Camptomelic Syndrome, Camptomelic Syndrome, Long-Limb Type, CMDI, Dwarfism, Campomelic, SRY-Box 9, SOX9 Mutations Syndrome

Camurati-Engelmann Disease

Also known as: CED, diaphyseal dysplasia, diaphyseal hyperostosis, progressive diaphyseal dysplasia (PDD), Engelmann’s disease

Canavan Disease

Also known as: ASPA deficiency, aspartoacylase deficiency, Canavan's leukodystrophy, Canavan-Van Bogaert-Bertrand disease, spongy degeneration of the central nervous system, Van Bogaert-Bertrand syndrome


Also known as: cerebral autosomal recessive arteriopathy w/subcortical, Maeda syndrome

Carbamoyl Phosphate Synthetase 1 Deficiency

Also known as: carbamoylphosphatase deficiency I, carbamoyl phosphate synthetase deficiency, carbamylphosphatase deficiency I, carbamyl phosphate synthetase I, CPSID, CPS1 deficiency

Carcinoid Syndrome

Also known as: carcinoid apudoma, carcinoid cancer, carcinoid disease, functioning argentaffinoma, functioning carcinoid, malignant carcinoid syndrome, neuroendocrine tumor carcinoid type

Carney Complex

Also known as: Carney syndrome, CNC, familial myxoma, lentigines, atrial myxoma, and blue nevi (LAMB) syndrome, nevi, atrial myxoma, myxoid neurofibromas, and ephelides (NAME) syndrome

Caroli Disease

Also known as: congenital dilatation of intrahepatic bile duct, congenital communicating cavernous ectasia of the intrahepatic biliary tract

Castleman Disease

Also known as: angiofollicular lymph node hyperplasia, angiomatous lymphoid, Castleman tumor, giant benign lymphoma, giant lymph node hyperplasia, hamartoma of the lymphatics

Cat Eye Syndrome

Also known as: CES, chromosome 22, inverted duplication (22pter-22q11), chromosome 22, partial tetrasomy (22pter-22q11), chromosome 22, partial trisomy (22pter-22q11), Schmid-Fraccaro syndrome

Catel Manzke Syndrome

Also known as: Catel-Manzke Type Palatodigital Syndrome, Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome, Micrognathia-Digital Syndrome

Caudal Regression Syndrome

Also known as: caudal dysplasia, caudal dysplasia, caudal dysplasia sequence, sacral agenesis, congenital, sacral regression

Cavernous Malformation

Also known as: cavernoma, cavernous angioma, cavernous hemangioma, cerebral cavernous malformation (CCM)

CDKL5 Deficiency Disorder

Also known as: CDKL5 deficiency, CDKL5 disorder, CDKL5 encephalopathy, CDKL5-related epilepsy, CDKL5-related epileptic encephalopathy, Early infantile epileptic encephalopathy 2 , CDD, STK9

Central Core Disease

Also known as: CCD, CCO, Central Core Disease of Muscle, Muscle Core Disease, Muscular Central Core Disease, Myopathy, Central Core, Myopathy, Central Fibrillar, Shy-Magee Syndrome

Central Diabetes Insipidus

Also known as: CDI, neurogenic diabetes insipidus, neurohypophyseal diabetes insipidus, vasopressin-sensitive diabetes insipidus

Centronuclear Myopathy

Also known as: autosomal dominant centronuclear myopathy (AD-CNM), autosomal recessive centronuclear myopathy (AR-CNM), CNM

Cerebellar Agenesis

Also known as: cerebellar aplasia, isolated cerebellar agenesis, subtotal cerebellar agenesis

Cerebral Folate Deficiency

Also known as: cerebral folate deficiency syndrome, cerebral folate transport deficiency, FOLR1 deficiency, neurodegeneration due to cerebral folate transport deficiency

Cerebral Palsy

Also known as: Cerebral Diplegia, CP, Infantile Cerebral Paralysis, Little Disease, Palsy

Cerebro Oculo Facio Skeletal Syndrome

Also known as: Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome type II, COFS Syndrome, Pena Shokeir II Syndrome, Pena Shokeir Syndrome Type II

Cervical Dystonia

Also known as: focal dystoniaidiopathic cervical dystonia, isolated (formally primary) cervical dystonia, spasmodic torticollis, spasmodic wryneck, torticollis

Chanarin-Dorfman Syndrome

Also known as: Chanarin-Dorfman disease , neutral lipid storage disease type I, CGI58 deficiency, disorder of cornification 12 (neutral lipid storage type), DOC 12 (neutral lipid storage type), Dorfman Chanarin syndrome, ichthyosiform erythroderma with leukocyte vacuolation, ichthyotic neutral lipid storage disease, triglyceride storage disease impaired long-chain fatty acid oxidation, CDS

Chandler’s Syndrome

Also known as: iridocorneal endothelial syndrome, iris atrophy with corneal edema and glaucoma

Charcot-Marie-Tooth Disease

Also known as: CMT, hereditary motor and sensory neuropathy (HMSN), peroneal muscular atrophy, distal hereditary motor neuropathy (dHMN), hereditary sensory neuropathy (HSN or HSAN), distal spinal muscular atrophy (DSMA)

CHARGE Syndrome

Also known as: CHARGE association, Hall-Hittner syndrome, coloboma, heart, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies

Chediak Higashi Syndrome

Also known as: Begnez-Cesar's Syndrome, Chediak-Steinbrinck-Higashi Syndrome, CHS, Leukocytic Anomaly Albinism, Natural Killer Lymphocytes, Defect in, Oculocutaneous Albinism, Chediak-Higashi Type

Chiari Frommel Syndrome

Also known as: Frommel-Chiari Syndrome, Lactation-Uterus Atrophy, Postpartum Galactorrhea-Amenorrhea Syndrome

Chiari Malformations

Also known as: Arnold-Chiari Malformation (ACM), CM, Hindbrain Herniation, Tonsillar Ectopia


Also known as: Arbovirus A Chikungunya Type, CHIK, CK


Also known as: Asiatic Cholera, Epidemic Cholera

Cholesteryl Ester Storage Disease

Also known as: acid cholesteryl ester hydrolase deficiency, type 2, CESD, cholesterol ester hydrolase deficiency, LAL deficiency, CESD type


Also known as: clival chordoma, familial chordoma, intracranial chordoma, sacrococcygeal chordoma, skull base chordoma, spinal chordoma


Also known as: choroidal sclerosis, progressive choroidal atrophy, progressive tapetochoroidal dystrophy

Choroiditis, Serpiginous

Also known as: Geographic Choroiditis, Geographic Choroidopathy, Geographic Helicoid Peripapillary Choroidopathy (GHPC), Geographic Serpiginous Choroiditis, Peripapillary Choroidopathy, Serpiginous Choroidopathy

Chromosome 10, Distal Trisomy 10q

Also known as: chromosome 10, partial trisomy 10q24-qter, chromosome 10, trisomy 10q2, distal duplication 10q, distal trisomy 10q syndrome, dup(10q) syndrome

Chromosome 10, Monosomy 10p

Also known as: 10p deletion syndrome (partial), chromosome 10, 10p- partial, chromosome 10, partial deletion (short arm)

Chromosome 11, Partial Monosomy 11q

Also known as: 11q- syndrome, partial, 11q terminal deletion disorder, deletion 11q syndrome, partial, distal 11q monosomy, distal 11q- syndrome, Jacobsen syndrome, JBS, monosomy 11q, partial, partial monosomy of long arm of chromosome 11

Chromosome 11, Partial Trisomy 11q

Also known as: 11q Partial Trisomy, Chromosome 11, Partial Trisomy 11q13-qter, Chromosome 11, Partial Trisomy 11q21-qter, Chromosome 11, Partial Trisomy 11q23-qter, Distal Trisomy 11q, Partial Trisomy 11q, Trisomy 11q, Partial

Chromosome 13, Partial Monosomy 13q

Also known as: 13q- Syndrome, Partial, Deletion 13q Syndrome, Partial, Monosomy 13q, Partial, Partial Monosomy of the Long Arm of Chromosome 13

Chromosome 15 Ring

Also known as: r15, Ring 15, Ring 15, Chromosome, Ring 15, Chromosome (mosaic pattern)

Chromosome 18, Monosomy 18p

Also known as: 18p Deletion Syndrome, 18p- Syndrome, Del(18p) Syndrome, Monosomy 18p Syndrome, Short Arm 18 Deletion Syndrome

Chromosome 18q- Syndrome

Also known as: 18q Deletion Syndrome, 18q- Syndrome, Chromosome 18 Long Arm Deletion Syndrome, Chromosome 18, Monosomy 18Q, Del(18q) Syndrome, Monosomy 18q Syndrome

Chromosome 22q11.2 Deletion Syndrome

Also known as: autosomal dominant Opitz G/BBB syndrome, Cayler cardiofacial syndrome, conotruncal anomaly face syndrome, DiGeorge syndrome, Shprintzen syndrome, velocardiofacial syndrome, 22q11.2DS

Chromosome 3, Trisomy 3q2

Also known as: Chromosome 3, Distal 3q2 Duplication, Chromosome 3, Distal 3q2 Trisomy, Partial Duplication 3q Syndrome, Partial Trisomy 3q Syndrome

Chromosome 4, Monosomy Distal 4q

Also known as: 4q Deletion Syndrome, Partial, Chromosome 4, 4q Terminal Deletion Syndrome, Chromosome 4, Partial Monosomy 4q, Del(4q) Syndrome, Partial, Distal 4q Monosomy, Distal 4q- Syndrome

Chromosome 4, Partial Trisomy Distal 4q

Also known as: Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included), Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included), Distal 4q Trisomy, Dup(4q) Syndrome, Partial, Duplication 4q Syndrome, Partial, Partial Trisomy 4q Sayndrome

Chromosome 4q Deletion

Also known as: chromosome 4 long arm deletion, chromosome 4q- syndrome, deletion 4q , monosomy 4q

Chromosome 5, Trisomy 5p

Also known as: chromosome 5, trisomy 5p, complete (5p11-ter), included, chromosome 5, trisomy 5p, partial, included, dup(5p) syndrome, duplication 5p syndrome, trisomy 5p, supernumerary marker chromosome 5p, r(5)

Chromosome 6, Partial Trisomy 6q

Also known as: 6q+ Syndrome, Partial, Chromosome 6, Trisomy 6q2, Distal Duplication 6q, Distal Trisomy 6q, Duplication 6q, Partial, Trisomy 6q, Partial, Trisomy 6q Syndrome, Partial

Chromosome 7, Partial Monosomy 7p

Also known as: Chromosome 7, 7p Deletion Syndrome, Partial, Chromosome 7, Partial Deletion of Short Arm, Del(7p) Syndrome, Partial, Interstitial 7p Monosomy, Included, Partial 7p Monosomy, Terminal 7p Monosomy, Included, Terminal 7p Monosomy, Included

Chromosome 8, Monosomy 8p

Also known as: 8p- Syndrome, Partial, Chromosome 8, 8p Deletion Syndrome, Partial, Chromosome 8, Partial Deletion of Short Arm, Chromosome 8, Partial Monosomy 8p, Del(8p) Syndrome, Partial, Distal 8p Monosomy, Partial 8p Monosomy, Terminal 8p- Syndrome (8p21 to 8p23-pter), Included

Chromosome 9, Partial Monosomy 9p

Also known as: 9p Partial Monosomy, 9p- Syndrome, Partial, Chromosome 9, Partial Monosomy 9p22, Chromosome 9, Partial Monosomy 9p22-pter, Del(9p) Syndrome, Partial, Deletion 9p Syndrome, Partial, Distal 9p- Syndrome, Distal Monosomy 9p, Monosomy 9p, Partial, Partial Deletion of Short Arm of Chromosome 9

Chromosome 9, Tetrasomy 9p

Also known as: Chromosome 9, Tetrasomy 9p Mosaicism, Mosaic Tetrasomy 9p, Tetrasomy 9p, Tetrasomy, Short Arm of Chromosome 9

Chronic Granulomatous Disease

Also known as: CGD, chronic dysphagocytosis, chronic granulomatous disease, congenital dysphagocytosis, fatal granulomatous disease of childhood, granulomatosis, chronic, familial, granulomatosis, septic, progressive, impotent neutrophil syndrome

Churg Strauss Syndrome

Also known as: allergic angiitis and granulomatosis, allergic granulomatosis, allergic granulomatosis and angiitis, Churg-Strauss vasculitis, CSS, eosinophilic granulomatosis with polyangiitis, EGPA

Citrullinemia Type 1

Also known as: argininosuccinate synthetase deficiency, argininosuccinic acid synthetase deficiency, ASS deficiency, citrullinemia, classic, CTLN1

Classic Hereditary Hemochromatosis

Also known as: bronze diabetes, classic hemochromatosis, hemochromatosis type I, hemosiderosis, HFE-related hemochromatosis, HH, primary hemochromatosis

Classic Infantile CLN1 Disease

Also known as: CLN1, INCL, Infantile Finnish type neuronal ceroid lipofuscinosis (Balkan disease), Infantile NCL, Infantile neuronal ceroid lipofuscinosis, Santavuori-Haltia Disease, Santavuori disease

Cleidocranial Dysplasia

Also known as: Cleidocranial Dysostosis, Dysplasia, Cleidocranial, Dysplasia, Osteodental, Marie-Sainton Disease

Clostridial Myonecrosis

Also known as: Clostridium myonecrosis, Clostridium septicum infection, Clostridium perfringens infection

Cluster Headache

Also known as: familial cluster headaches, histamine cephalalgia, vasogenic facial pain

Cockayne Syndrome

Also known as: CS, Deafness-Dwarfism-Retinal Atrophy, Dwarfism with Renal Atrophy and Deafness, Neill-Dingwall Syndrome, Progeroid Nanism

Cogan Reese Syndrome

Also known as: ICE Syndrome, Cogan-Reese Type, iridocorneal endothelial (ICE) syndrome, Cogan-Reese type, iris naevus syndrome, iris nevus syndrome

Cold Agglutinin Disease

Also known as: CAD, cold agglutinin hemolytic anemia, cold antibody hemolytic anemia, cold antibody disease

Common Variable Immune Deficiency

Also known as: acquired hypogammaglobulinemia, common variable hypogammaglobulinemia, common variable immunodeficiency, CVI, CVID, immunodeficiency, common variable, late-onset immunoglobulin deficiency

Cone Dystrophy

Also known as: retinal cone degeneration, retinal cone dystrophy

Congenital Fiber Type Disproportion

Also known as: atrophy of type I fibers, CFTD, CFTDM, myopathy, congenital, with fiber-type disproportion, myopathy of congenital fiber type disproportion

Congenital Hyperinsulinism

Also known as: CHI, familial hyperinsulinism, HI, islet cell dysregulation syndrome, nesidioblastosis (antiquated), persistent hyperinsulinemic hypoglycemia of infancy (PHHI)

Congenital Varicella Syndrome

Also known as: Fetal Effects of Chickenpox, Fetal Effects of Varicella Zoster Virus, Fetal Varicella Infection, Fetal Varicella Zoster Syndrome, Varicella Embryopathy

Conradi Hünermann Syndrome

Also known as: CDPXD2, CDPX2, X-linked dominant chondrodysplasia punctata 2, Conradi-Hunermann-Happle syndrome, Happle syndrome, chondrodysplasia punctata type 2

Cornelia de Lange Syndrome

Also known as: BDLS, Brachmann-de Lange syndrome, CdLS, de Lange syndrome, Cornelia de Lange syndrome spectrum


Also known as: Rathke’s pouch tumor, craniopharyngeal duct tumor

Creutzfeldt Jakob Disease

Also known as: CJD, Jakob-Creutzfeldt Disease, Jakob's Disease, subacute spongiform encephalopathy

Crigler Najjar Syndrome

Also known as: familial nonhemolytic unconjugated hyperbilirubinemia, hereditary unconjugated hyperbilirubinemia

Cronkhite-Canada Syndrome

Also known as: allergic granulomatous angiitis of Cronkhite-Canada, Canada-Cronkhite disease, CCD, CCS, gastrointestinal polyposis and ectodermal changes, polyposis, skin pigmentation, alopecia, and fingernail changes

Crouzon Syndrome

Also known as: craniofacial dysostosis, craniostenosis, Crouzon type, Crouzon craniofacial dysostosis


Also known as: Busse-Buschke Disease, Cryptococcic Meningitis, Cryptococcosis Lung, Cryptococcosis Skin, European Blastomycosis, Torular Meningitis, Torulosis

Cutaneous Vasculitis

Also known as: Cutaneous Leukocytoclastic Angiitis, Dermal Necrotizing Angiitis, Hypersensitivity Vasculitis

Cyclic Neutropenia

Also known as: CN, CyN, cyclic hematopoiesis, human cyclic neutropenia, periodic neutropenia

Cyclic Vomiting Syndrome

Also known as: adult cyclic vomiting syndrome , abdominal migraine, childhood cyclic vomiting, CVS, cyclical vomiting, periodic syndrome

Cystic Fibrosis

Also known as: CF, fibrocystic disease of pancreas, mucoviscidosis, pancreatic fibrosis


Also known as: neurocysticercosis (NCC), solitary cysticercus granuloma


Also known as: CSNU, cystinuria-lysinuria

Cytomegalovirus Infection

Also known as: CMV, Cytomegalic Inclusion Disease, Giant Cell Inclusion Disease (CID), Human Cytomegalovirus Infection, Salivary Gland Disease, CMV Type