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Rare Disease Database

Search Results for: C

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

C Syndrome

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

CADASIL

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
Subdivisions: No subdivisions found

Candidiasis

Also known as: Candidosis, Moniliasis
Subdivisions: Candida Granuloma, Candida Infection around the Nails, Candida Paronichia, Candidiasis of the Skin, Cutaneous Candidiasis, Cutaneous Moniliasis, Mucocutaneous Candidiasis, Chronic, Oral Candidiasis, Penis, infected by Candida, Systemic Candidiasis, Thrush, Vaginitis, Caused by Candida, Vulvovaginitis, Caused by Candida, Yeast Infection, Systemic

CARASIL

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
Subdivisions: Caroli syndrome

Carpenter Syndrome

Also known as: ACPS II, acrocephalopolysyndactyly type II
Subdivisions: Carpenter syndrome type 1, Carpenter syndrome type 2

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)
Subdivisions: familial cavernous malformation, sporadic cavernous malformation

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

Central Pain Syndrome

Also known as: CPS
Subdivisions: Brain central pain (BCP) : includes central post-stroke syndrome, Cord central pain (CCP), Dejerine-Roussy syndrome (obsolete), thalamic pain syndrome (obsolete), thalamic syndrome (obsolete)

Centronuclear Myopathy

Also known as: autosomal dominant centronuclear myopathy (AD-CNM), autosomal recessive centronuclear myopathy (AR-CNM), CNM
Subdivisions: BIN1-related CNM, DNM2-related CNM, RYR1-related CNM, X-linked myotubular myopathy (XLMTM)

Cerebellar Agenesis

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

Cerebral Creatine Deficiency Syndromes

Also known as: CCDS
Subdivisions: creatine transporter defect (CTD) , guanidinoacetate methyltransferase deficiency (GAMT), arginine: glycine amidinotransferase deficiency (AGAT)

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
Subdivisions: Ataxia Cerebral Palsy, Athetoid Cerebral Palsy, Congenital Cerebral Palsy, Diplegia of Cerebral Palsy, Hemiparesis of Cerebral Palsy, Hemiplegia of Cerebral Palsy, Postnatal Cerebral Palsy, Quadriparesis of Cerebral Palsy, Quadriplegia of Cerebral Palsy, Spastic Cerebral 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)
Subdivisions: CMT1: demyelinating autosomal dominant, CMT2: axonal, autosomal dominant, CMT4: recessive, CMTX: X linked, CMTDI: dominant intermediate , CMTRI: recessive intermediate

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
Subdivisions: Chiari type 0 (Chiari malformation 0), Chiari type I (Chiari malformation I), Chiari type II (Chiari malformation II), Chiari type III (Chiari malformation III), Chiari type IV (Chiari malformation IV)

Chikungunya

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

Cholangiocarcinoma

Also known as: bile duct adenocarcinoma, biliary tract cancer
Subdivisions: distal cholangiocarcinoma, gallbladder adenocarcinoma (biliary tract cancer, not cholangiocarcinoma), intrahepatic cholangiocarcinoma, perihilar cholangiocarcinoma

Cholera

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

Chordoma

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

Choroideremia

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
Subdivisions: No subdivisions found

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
Subdivisions: No subdivisions found

Chronic Lymphocytic Leukemia

Also known as: chronic lymphoid leukemia, CLL, SLL (small lymphocytic lymphoma)
Subdivisions: IgHV-mutated CLL, IgHV-unmutated CLL

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
Subdivisions: chronic cluster headache, episodic cluster headache

Cockayne Syndrome

Also known as: CS, Deafness-Dwarfism-Retinal Atrophy, Dwarfism with Renal Atrophy and Deafness, Neill-Dingwall Syndrome, Progeroid Nanism
Subdivisions: Classical Form, Cockayne Syndrome Type I (Type A), Congenital Form, Cockayne Syndrome Type II (Type B), Late Onset, Cockayne Syndrome Type III (Type C)

Cogan Reese Syndrome

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

COL4A1/A2-Related Disorders

Also known as: COL4A1/A2 syndrome, Gould syndrome
Subdivisions: HANAC: hereditary angiopathy, nephropathy and cramps syndrome (OMIM #611773), POREN1: autosomal dominant type 1 porencephaly; porencephaly with infantile hemiplegia (OMIM #175780, RATOR: retinal arterial tortuosity (OMIM #180000), BSVD: brain small vessel disease with or without ocular anomalies (OMIM #607595), ICH: susceptibility to intracerebral hemorrhage (OMIM #614519), schizencephaly: (OMIM #269160)

Cold Agglutinin Disease

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

Collagen Type VI-Related Disorders

Also known as: benign congenital myopathy with contractures, Ullrich disease
Subdivisions: Bethlem myopathy, Ullrich congenital muscular dystrophy (UCMD)

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
Subdivisions: progressive cone dystrophy, stationary cone dystrophy

Congenital Adrenal Hyperplasia

Also known as: adrenogenital syndrome, CAH
Subdivisions: 11-Beta hydroxylase deficiency, 17a-hydroxylase deficiency, 21-hydroxylase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, congenital lipoid adrenal hyperplasia, p450 oxidoreductase deficiency

Congenital Disorders of Glycosylation

Also known as: CDG, CDG syndrome, carbohydrate-deficient glycoprotein syndromes
Subdivisions: disorders of protein N-glycosylation (type 1 and 2), disorders of protein O-glycosylation , disorders of glycosphingolipid and GPI-anchor glycosylation , disorders of multiple glycosylation and other pathways

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 Fibrosis of the Extraocular Muscles

Also known as: congenital fibrosis syndrome
Subdivisions: congenital fibrosis of the extraocular muscles 1 (CFEOM 1), congenital fibrosis of the extraocular muscles 2 (CFEOM 2), congenital fibrosis of the extraocular muscles 3 (CFEOM 3), Tukel syndrome

Congenital Generalized Lipodystrophy

Also known as: Berardinelli-Seip syndrome, Berardinelli Seip congenital lipodystrophy, BSCL, CGL, congenital lipoatrophic diabetes
Subdivisions: CGL type 1, CGL type 2, CGL type 3, CGL type 4

Congenital Heart Block

Also known as: atrioventricular (AV) block, CHB
Subdivisions: first degree congenital heart block, second degree congenital heart block [Mobitz type I (Wenckebach); Mobitz type II], third degree congenital (complete) heart block

Congenital Hyperinsulinism

Also known as: CHI, familial hyperinsulinism, HI, islet cell dysregulation syndrome, nesidioblastosis (antiquated), persistent hyperinsulinemic hypoglycemia of infancy (PHHI)
Subdivisions: diffuse KATP HI, exercise induced HI, focal KATP HI, GDH HI or HI/HA, GK HI, HNF4A/HNF1A HI, SCHAD HI

Congenital Muscular Dystrophy

Also known as: CMD
Subdivisions: Bethlem congenital muscular dystrophy, congenital muscular dystrophy type 1A (MDC1A; merosin-deficient CMD), congenital muscular dystrophy type 1B (MDC1B), congenital muscular dystrophy type 1C (MDC1C), congenital muscular dystrophy type 1D (MDC1D), congenital muscular dystrophy with integrin deficiency, Fukuyama congenital muscular dystrophy, LMNA-related disorders, muscle-eye-brain disease, rigid spine muscular dystrophy (RSMD1), SEPN1-related disorders, SYNE1-related disorder, Ullrich congenital muscular dystrophy, Walker-Warburg syndrome

Congenital Myasthenic Syndromes

Also known as: CMS
Subdivisions: presynaptic, synaptic basal lamina-associated, defects in acetlcholine receptor, defects in endplate development and maintenance, congenital defect of glycosylation, other myasthenic syndromes

Congenital Myopathy

Also known as: CM, Batten Turner congenital myopathy
Subdivisions: nemaline myopathy, central core myopathy, multiminicore myopathy, centronuclear myopathy, congenital fiber type disproportion myopathy, myotubular myopathy

Congenital Plasminogen Deficiency

Subdivisions: Plasminogen deficiency type I (True plasminogen deficiency, Hypoplasminogenemia), Plasminogen deficiency type II (Dysplasminogenemia)

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

Corneal Dystrophies

Subdivisions: congenital hereditary endothelial corneal dystrophy, epithelial basement membrane dystrophy, fuchs endothelial corneal dystrophy, granular corneal dystrophy type I, granular corneal dystrophy type II (Avellino), lattice corneal dystrophy type I, lattice corneal dystrophy type II, Lisch corneal dystrophy, macular corneal dystrophy, Meesmann corneal dystrophy, posterior polymorphous corneal dystrophy, Reis-Buckler corneal dystrophy, Schnyder crystalline corneal dystrophy, Thiel-Behnke corneal dystrophy

Cornelia de Lange Syndrome

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

Craniopharyngioma

Also known as: Rathke’s pouch tumor, craniopharyngeal duct tumor
Subdivisions: adamantinomatous craniopharyngioma, papillary craniopharyngioma

Creutzfeldt Jakob Disease

Also known as: CJD, Jakob-Creutzfeldt Disease, Jakob's Disease, subacute spongiform encephalopathy
Subdivisions: sporadic Creutzfeldt-Jakob disease (sCJD), genetic Creutzfeldt-Jakob disease (gCJD), acquired Creutzfeldt-Jakob disease (aCJD)

Crigler Najjar Syndrome

Also known as: familial nonhemolytic unconjugated hyperbilirubinemia, hereditary unconjugated hyperbilirubinemia
Subdivisions: Crigler-Najjar syndrome type I, Crigler-Najjar syndrome type II (Arias syndrome)

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

Cryptococcosis

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

Cushing Syndrome

Also known as: hypercortisolism
Subdivisions: endogenous Cushing syndrome, exogenous Cushing syndrome

Cutaneous T-Cell Lymphomas

Also known as: CTCL
Subdivisions: Granulomatous Slack Skin, Lymphomatoid Papulosis, Mycosis Fungoides, Pagetoid Reticulosis (Woringer-Kolopp Disease), Primary Cutaneous Anaplastic Large Cell Lymphomas, Sezary Syndrome, Subcutaneous Panniculitic T-Cell Lymphoma

Cutaneous Vasculitis

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

Cutis Laxa

Also known as: Elastolysis
Subdivisions: Acquired cutis laxa, ALDH18A1-related cutis laxa, ATP6V0A2-related cutis laxa, Autosomal dominant cutis laxa (ADCL), Autosomal recessive cutis laxa type 1A (ARCL1A), Autosomal recessive cutis laxa type 1B (ARCL1B), Autosomal recessive cutis laxa type 1C (ARCL1C), Autosomal recessive cutis laxa type 2A (ARCL2A, Autosomal recessive cutis laxa type 2B (ARCL2B), Autosomal recessive cutis laxa type 3, Debre-type cutis laxa, EFEMP2-related cutis laxa, ELN-related cutis laxa, Geroderma Osteodyplasticum, LTBP4-related cutis laxa, MACS syndrome, PYCR1-related cutis laxa, RIN2-related cutis laxa, Urban-Rifkin-Davis syndrome, Wrinkly skin syndrome

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

Cysticercosis

Also known as: neurocysticercosis (NCC), solitary cysticercus granuloma
Subdivisions: extraneural cysticercosis, parenchymal neurocysticercosis, extraparenchymal neurocysticercosis

Cystinosis

Subdivisions: infantile nephropathic cystinosis, intermediate cystinosis, non-nephropathic cystinosis

Cystinuria

Also known as: CSNU, cystinuria-lysinuria

Cytochrome C Oxidase Deficiency

Also known as: complex IV deficiency, COX deficiency, deficiency of mitochondrial respiratory chain complex IV
Subdivisions: COX deficiency, benign infantile mitochondrial myopathy type, COX deficiency, French-Canadian type, COX deficiency, infantile mitochondrial myopathy type, Leigh's syndrome (subacute necrotizing encephalomyelopathy)

Cytomegalovirus Infection

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