Scroll Search Results for: C Also known as: Opitz trigonocephaly syndrome, trigonocephaly C syndrome, trigonocephaly syndrome, OTCS Also known as: C3G Also known as: cerebral autosomal dominant arteriopathy w/subcortical infarcts & leukoencephalopathy, hereditary multi-infarct dementia 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 Also known as: CED, diaphyseal dysplasia, diaphyseal hyperostosis, progressive diaphyseal dysplasia (PDD), Engelmann’s 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: Candidosis, Moniliasis Also known as: cerebral autosomal recessive arteriopathy w/subcortical, Maeda syndrome Also known as: carbamoylphosphatase deficiency I, carbamoyl phosphate synthetase deficiency, carbamylphosphatase deficiency I, carbamyl phosphate synthetase I, CPSID, CPS1 deficiency Also known as: carcinoid apudoma, carcinoid cancer, carcinoid disease, functioning argentaffinoma, functioning carcinoid, malignant carcinoid syndrome, neuroendocrine tumor carcinoid type Also known as: cardio-facial-cutaneous syndrome, CFC syndrome, RASopathy 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 Also known as: CPT 1A deficiency, hepatic carnitine palmitoyltransferase 1 deficiency, hepatic CPT1, L-CPT1 deficiency Also known as: carnosinase deficiency Also known as: congenital dilatation of intrahepatic bile duct, congenital communicating cavernous ectasia of the intrahepatic biliary tract Also known as: ACPS II, acrocephalopolysyndactyly type II Also known as: angiofollicular lymph node hyperplasia, angiomatous lymphoid, Castleman tumor, giant benign lymphoma, giant lymph node hyperplasia, hamartoma of the lymphatics 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 Also known as: Catel-Manzke Type Palatodigital Syndrome, Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome, Micrognathia-Digital Syndrome Also known as: caudal dysplasia, caudal dysplasia, caudal dysplasia sequence, sacral agenesis, congenital, sacral regression Also known as: cavernoma, cavernous angioma, cavernous hemangioma, cerebral cavernous malformation (CCM) Also known as: CDKL5 deficiency, CDKL5 disorder, CDKL5 encephalopathy, CDKL5-related epilepsy, CDKL5-related epileptic encephalopathy, Early infantile epileptic encephalopathy 2 , CDD, STK9 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 Also known as: CDI, neurogenic diabetes insipidus, neurohypophyseal diabetes insipidus, vasopressin-sensitive diabetes insipidus Also known as: CPS Also known as: autosomal dominant centronuclear myopathy (AD-CNM), autosomal recessive centronuclear myopathy (AR-CNM), CNM Also known as: cerebellar aplasia, isolated cerebellar agenesis, subtotal cerebellar agenesis Also known as: CCDS Also known as: cerebral folate deficiency syndrome, cerebral folate transport deficiency, FOLR1 deficiency, neurodegeneration due to cerebral folate transport deficiency Also known as: Cerebral Diplegia, CP, Infantile Cerebral Paralysis, Little Disease, Palsy Also known as: Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome type II, COFS Syndrome, Pena Shokeir II Syndrome, Pena Shokeir Syndrome Type II Also known as: CCMS, CCM Syndrome, rib gap defects with micrognathia, cerebro-costo-mandibular syndrome Also known as: cerebral cholesterinosis, CTX, sterol 27-hydroxylase deficiency Also known as: focal dystoniaidiopathic cervical dystonia, isolated (formally primary) cervical dystonia, spasmodic torticollis, spasmodic wryneck, torticollis Also known as: primary thyroid teratoma 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 Also known as: iridocorneal endothelial syndrome, iris atrophy with corneal edema and glaucoma 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) 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 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 Also known as: Frommel-Chiari Syndrome, Lactation-Uterus Atrophy, Postpartum Galactorrhea-Amenorrhea Syndrome Also known as: Arnold-Chiari Malformation (ACM), CM, Hindbrain Herniation, Tonsillar Ectopia Also known as: Arbovirus A Chikungunya Type, CHIK, CK Also known as: bile duct adenocarcinoma, biliary tract cancer Also known as: Asiatic Cholera, Epidemic Cholera Also known as: acid cholesteryl ester hydrolase deficiency, type 2, CESD, cholesterol ester hydrolase deficiency, LAL deficiency, CESD type Also known as: CCAL2 , articular chondrocalcinosis 2 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 Also known as: Geographic Choroiditis, Geographic Choroidopathy, Geographic Helicoid Peripapillary Choroidopathy (GHPC), Geographic Serpiginous Choroiditis, Peripapillary Choroidopathy, Serpiginous Choroidopathy Also known as: chromosome 10, partial trisomy 10q24-qter, chromosome 10, trisomy 10q2, distal duplication 10q, distal trisomy 10q syndrome, dup(10q) syndrome Also known as: 10p deletion syndrome (partial), chromosome 10, 10p- partial, chromosome 10, partial deletion (short arm) 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 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 Also known as: 13q- Syndrome, Partial, Deletion 13q Syndrome, Partial, Monosomy 13q, Partial, Partial Monosomy of the Long Arm of Chromosome 13 Also known as: r14, Ring 14, Ring Chromosome 14 Also known as: Trisomy 14 Mosaic, Trisomy 14 Mosaicism Syndrome Also known as: r15, Ring 15, Ring 15, Chromosome, Ring 15, Chromosome (mosaic pattern) Also known as: Chromosome 15, Trisomy 15q2, Distal Duplication 15q, Partial Duplication 15q Syndrome Also known as: r 18, Ring 18, Ring Chromosome 18 Also known as: 18p Deletion Syndrome, 18p- Syndrome, Del(18p) Syndrome, Monosomy 18p Syndrome, Short Arm 18 Deletion Syndrome Also known as: Tetrasomy, Short Arm of Chromosome 18 Also known as: 18q Deletion Syndrome, 18q- Syndrome, Chromosome 18 Long Arm Deletion Syndrome, Chromosome 18, Monosomy 18Q, Del(18q) Syndrome, Monosomy 18q Syndrome Also known as: r21, Ring 21, Ring 21, Chromosome Also known as: r(22), Ring 22, Ring 22, Chromosome Also known as: autosomal dominant Opitz G/BBB syndrome, Cayler cardiofacial syndrome, conotruncal anomaly face syndrome, DiGeorge syndrome, Shprintzen syndrome, velocardiofacial syndrome, 22q11.2DS Also known as: Chromosome 3, Deletion of Distal 3p, Chromosome 3, Distal 3p Monosomy, Monosomy 3p Also known as: Chromosome 3, Distal 3q2 Duplication, Chromosome 3, Distal 3q2 Trisomy, Partial Duplication 3q Syndrome, Partial Trisomy 3q Syndrome 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 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 Also known as: Chromosome 4, Partial Trisomy 4p, Dup(4p) Syndrome, Duplication 4p Syndrome Also known as: chromosome 4 long arm deletion, chromosome 4q- syndrome, deletion 4q , monosomy 4q 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) Also known as: r6, Ring 6, Ring 6, Chromosome 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 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 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 Also known as: R9, Ring 9, Ring 9, Chromosome 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 Also known as: Chromosome 9, Tetrasomy 9p Mosaicism, Mosaic Tetrasomy 9p, Tetrasomy 9p, Tetrasomy, Short Arm of Chromosome 9 Also known as: Carrington's disease, CEP, ICEP, idiopathic chronic eosinophilic pneumonia 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 Also known as: CIDP, chronic inflammatory demyelinating polyradiculoneuropathy Also known as: chronic idiopathic intestinal pseudo-obstruction, CIIP, CIP, pseudo-obstruction syndrome Also known as: chronic lymphoid leukemia, CLL, SLL (small lymphocytic lymphoma) Also known as: CGL, chronic granulocytic leukemia, chronic myelocytic leukemia, chronic myeloid leukemia, CML Also known as: allergic angiitis and granulomatosis, allergic granulomatosis, allergic granulomatosis and angiitis, Churg-Strauss vasculitis, CSS, eosinophilic granulomatosis with polyangiitis, EGPA Also known as: alopecia cicatrisata, scarring alopecia, scarring hair loss Also known as: Ciguatera Poisoning, Ichthyosarcotoxism Also known as: argininosuccinate synthetase deficiency, argininosuccinic acid synthetase deficiency, ASS deficiency, citrullinemia, classic, CTLN1 Also known as: bronze diabetes, classic hemochromatosis, hemochromatosis type I, hemosiderosis, HFE-related hemochromatosis, HH, primary hemochromatosis Also known as: CLN1, INCL, Infantile Finnish type neuronal ceroid lipofuscinosis (Balkan disease), Infantile NCL, Infantile neuronal ceroid lipofuscinosis, Santavuori-Haltia Disease, Santavuori disease Also known as: Cleidocranial Dysostosis, Dysplasia, Cleidocranial, Dysplasia, Osteodental, Marie-Sainton Disease Also known as: Clostridium myonecrosis, Clostridium septicum infection, Clostridium perfringens infection Also known as: CLOVE syndrome Also known as: familial cluster headaches, histamine cephalalgia, vasogenic facial pain Also known as: Coats syndrome Also known as: CS, Deafness-Dwarfism-Retinal Atrophy, Dwarfism with Renal Atrophy and Deafness, Neill-Dingwall Syndrome, Progeroid Nanism Also known as: Coffin Syndrome, CLS Also known as: CSS, fifth digit syndrome Also known as: ICE Syndrome, Cogan-Reese Type, iridocorneal endothelial (ICE) syndrome, Cogan-Reese type, iris naevus syndrome, iris nevus syndrome Also known as: Pepper Syndrome Also known as: COL4A1/A2 syndrome, Gould syndrome Also known as: CAD, cold agglutinin hemolytic anemia, cold antibody hemolytic anemia, cold antibody disease Also known as: benign congenital myopathy with contractures, Ullrich disease Also known as: CTF, Mountain Fever, Mountain Tick Fever Also known as: acquired hypogammaglobulinemia, common variable hypogammaglobulinemia, common variable immunodeficiency, CVI, CVID, immunodeficiency, common variable, late-onset immunoglobulin deficiency Also known as: cDGS, DiGeorge syndrome with athymia Also known as: CRPS Also known as: retinal cone degeneration, retinal cone dystrophy Also known as: adrenogenital syndrome, CAH Also known as: CBPS Also known as: congenital failure of respiratory drive , CCHS, HADDAD syndrome, Ondine’s curse Also known as: CCA, Beals syndrome, Beals-Hecht syndrome, arthrogryposis, distal, type 9 Also known as: CDG, CDG syndrome, carbohydrate-deficient glycoprotein syndromes Also known as: CEP, Gunther disease, uroporphyrinogen III synthase deficiency, UROS deficiency Also known as: atrophy of type I fibers, CFTD, CFTDM, myopathy, congenital, with fiber-type disproportion, myopathy of congenital fiber type disproportion Also known as: congenital fibrosis syndrome Also known as: Berardinelli-Seip syndrome, Berardinelli Seip congenital lipodystrophy, BSCL, CGL, congenital lipoatrophic diabetes Also known as: atrioventricular (AV) block, CHB Also known as: CHF Also known as: CHI, familial hyperinsulinism, HI, islet cell dysregulation syndrome, nesidioblastosis (antiquated), persistent hyperinsulinemic hypoglycemia of infancy (PHHI) Also known as: CLA Also known as: CMD Also known as: CMS Also known as: CM, Batten Turner congenital myopathy Also known as: CPL, PPL, primary pulmonary lymphangiectasia, pulmonary cystic lymphangiectasis Also known as: CSID, congenital sucrose-isomaltase malabsorption, SI deficiency, congenital sucrose intolerance, disaccharide intolerance I Also known as: Lues, Congenital Also known as: Fetal Effects of Chickenpox, Fetal Effects of Varicella Zoster Virus, Fetal Varicella Infection, Fetal Varicella Zoster Syndrome, Varicella Embryopathy Also known as: CDPXD2, CDPX2, X-linked dominant chondrodysplasia punctata 2, Conradi-Hunermann-Happle syndrome, Happle syndrome, chondrodysplasia punctata type 2 Also known as: Cor Triatriatum Sinistrum, Triatrial Heart Also known as: BDLS, Brachmann-de Lange syndrome, CdLS, de Lange syndrome, Cornelia de Lange syndrome spectrum Also known as: CBD, CBGD, cortical basal ganglionic degeneration Also known as: faciocutaneoskeletal syndrome, FCS syndrome Also known as: CFND, craniofrontonasal dysostosis, craniofrontonasal syndrome, CFNS Also known as: CMD, Jackson type CMD, osteochondrodysplasia Also known as: Rathke’s pouch tumor, craniopharyngeal duct tumor Also known as: creatine transporter defect , CTD, X-linked creatine deficiency, CRTR, SLC6A8 Also known as: CJD, Jakob-Creutzfeldt Disease, Jakob's Disease, subacute spongiform encephalopathy Also known as: 5p- syndrome, cat's cry syndrome, CdCS, Lejeune syndrome Also known as: familial nonhemolytic unconjugated hyperbilirubinemia, hereditary unconjugated hyperbilirubinemia 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 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 Also known as: hypercortisolism Also known as: CTCL Also known as: Cutaneous Leukocytoclastic Angiitis, Dermal Necrotizing Angiitis, Hypersensitivity Vasculitis Also known as: Elastolysis Also known as: CMTC, Van Lohuizen syndrome Also known as: CN, CyN, cyclic hematopoiesis, human cyclic neutropenia, periodic neutropenia Also known as: adult cyclic vomiting syndrome , abdominal migraine, childhood cyclic vomiting, CVS, cyclical vomiting, periodic syndrome 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 Also known as: complex IV deficiency, COX deficiency, deficiency of mitochondrial respiratory chain complex IV Also known as: CMV, Cytomegalic Inclusion Disease, Giant Cell Inclusion Disease (CID), Human Cytomegalovirus Infection, Salivary Gland Disease, CMV Type 
