Genetic diseases-C
From WikiMD's Food, Medicine & Wellness Encyclopedia
- C-like syndrome see Bohring-Opitz syndrome
- C1 esterase inhibitor deficiency see Hereditary angioedema
- C1 inhibitor deficiency see Hereditary angioedema
- C2 deficiency see Complement component 2 deficiency
- C2D see Complement component 2 deficiency
- C3 glomerulonephritis see C3 glomerulopathy
- C3 glomerulopathy
- C3 inactivator deficiency see Complement factor I deficiency
- C3G see C3 glomerulopathy
- C8 deficiency see Complement component 8 deficiency
- CA-VA deficiency see Carbonic anhydrase VA deficiency
- CA5AD see Carbonic anhydrase VA deficiency
- CAA see Hereditary cerebral amyloid angiopathy
- CACH syndrome see Leukoencephalopathy with vanishing white matter
- CACT deficiency see Carnitine-acylcarnitine translocase deficiency
- CADASIL see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Caffey disease
- Caffey-Silverman syndrome see Caffey disease
- CAH1 see 21-hydroxylase deficiency
- CAHTP see Brain-lung-thyroid syndrome
- CAID see Chronic atrial and intestinal dysrhythmia
- CAKUT see Congenital anomalies of kidney and urinary tract
- calcifying epithelioma of Malherbe see Pilomatricoma
- calculus of kidney see Kidney stones
- calculus, kidney see Kidney stones
- calculus, renal see Kidney stones
- callosal agenesis and ocular abnormalities see Aicardi syndrome
- Calve-Perthes disease see Legg-Calvé-Perthes disease
- campomelic dwarfism see Campomelic dysplasia
- Campomelic dysplasia
- campomelic syndrome see Campomelic dysplasia
- camptodactyly-overgrowth-unusual facies see Weaver syndrome
- camptomelic dysplasia see Campomelic dysplasia
- Camurati-Engelmann disease
- Camurati-Engelmann syndrome see Camurati-Engelmann disease
- CAN see Crouzon syndrome with acanthosis nigricans
- Canale-Smith syndrome see Autoimmune lymphoproliferative syndrome
- Canavan disease
- Canavan's disease see Canavan disease
- cancer family syndrome see Lynch syndrome
- cancer of breast see Breast cancer
- cancer of bronchus see Lung cancer
- Cancer of the bladder see Bladder cancer
- cancer of the lung see Lung cancer
- cancer of the ovary see Ovarian cancer
- cancer of the parathyroid see Parathyroid cancer
- cancer of the parathyroid gland see Parathyroid cancer
- cancer of the prostate see Prostate cancer
- candle wax disease see Melorheostosis
- Cannon's disease see White sponge nevus
- Cantu syndrome see Cantú syndrome
- Cantú syndrome
- cap disease see Cap myopathy
- Cap myopathy
- capillary malformation-arteriovenous malformation see Capillary malformation-arteriovenous malformation syndrome
- Capillary malformation-arteriovenous malformation syndrome
- CARASIL see Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Carbamoyl phosphate synthetase I deficiency
- carbamoyl-phosphate synthase I deficiency disease see Carbamoyl phosphate synthetase I deficiency
- carbamyl-phosphate synthetase I deficiency disease see Carbamoyl phosphate synthetase I deficiency
- carbohydrate deficient glycoprotein syndrome type IIi see COG5-congenital disorder of glycosylation
- carbohydrate deficient glycoprotein syndrome type Ik see ALG1-congenital disorder of glycosylation
- carbohydrate intolerance see Glucose-galactose malabsorption
- carbohydrate-deficient glycoprotein syndrome type Ia see PMM2-congenital disorder of glycosylation
- carbohydrate-deficient glycoprotein syndrome type Ic see ALG6-congenital disorder of glycosylation
- carbohydrate-deficient glycoprotein syndrome type V see ALG6-congenital disorder of glycosylation
- Carbonic anhydrase VA deficiency
- carbonic anhydrase XII deficiency see Isolated hyperchlorhidrosis
- carboxylase deficiency, multiple, late-onset see Biotinidase deficiency
- carcinoma of parathyroid gland see Parathyroid cancer
- cardiac anomalies-developmental delay-facial dysmorphism syndrome see MED13L syndrome
- cardiac arrhythmia, ankyrin-B-related see Ankyrin-B syndrome
- cardiac-limb syndrome see Holt-Oram syndrome
- cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen syndrome
- cardio-cutaneous syndrome see Noonan syndrome with multiple lentigines
- cardio-facio-cutaneous syndrome see Cardiofaciocutaneous syndrome
- cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome
- Cardiofaciocutaneous syndrome
- cardiomyopathic lentiginosis see Noonan syndrome with multiple lentigines
- cardiomyopathy, restrictive see Familial restrictive cardiomyopathy
- cardioskeletal myopathy with neutropenia and abnormal mitochondria see Barth syndrome
- cardiovertebral syndrome see Alagille syndrome
- Carmi syndrome see Epidermolysis bullosa with pyloric atresia
- Carnevale syndrome see 3MC syndrome
- Carnevale-Krajewska-Fischetto syndrome see 3MC syndrome
- Carney complex
- Carney Syndrome see Carney complex
- carnitine acylcarnitine translocase deficiency see Carnitine-acylcarnitine translocase deficiency
- carnitine palmitoyltransferase 2 deficiency see Carnitine palmitoyltransferase II deficiency
- Carnitine palmitoyltransferase I deficiency
- carnitine palmitoyltransferase IA deficiency see Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- carnitine transporter deficiency see Primary carnitine deficiency
- carnitine uptake defect see Primary carnitine deficiency
- carnitine uptake deficiency see Primary carnitine deficiency
- carnitine-acylcarnitine carrier deficiency see Carnitine-acylcarnitine translocase deficiency
- Carnitine-acylcarnitine translocase deficiency
- carpal canal see Carpal tunnel syndrome
- carpal synostosis with dysplastic elbow joints and brachydactyly see Liebenberg syndrome
- carpal tunnel see Carpal tunnel syndrome
- Carpal tunnel syndrome
- Carpenter syndrome
- carsickness see Motion sickness
- Cartilage-hair hypoplasia
- cartilage-hair syndrome see Cartilage-hair hypoplasia
- CASK-related disorders see CASK-related intellectual disability
- CASK-related intellectual disability
- cat cry syndrome see Cri-du-chat syndrome
- catalase deficiency see Acatalasemia
- CATCH22 see 22q11.2 deletion syndrome
- Catecholamine-induced polymorphic ventricular tachycardia see Catecholaminergic polymorphic ventricular tachycardia
- Catecholaminergic polymorphic ventricular tachycardia
- cathepsin D deficiency see CLN10 disease
- cathepsin D deficient neuronal ceroid lipofuscinosis see CLN10 disease
- Catlin marks see Enlarged parietal foramina
- CATSPER-related nonsyndromic male infertility see CATSPER1-related nonsyndromic male infertility
- CATSPER1-related male infertility see CATSPER1-related nonsyndromic male infertility
- CATSPER1-related nonsyndromic male infertility
- caudal dysgenesis syndrome see Caudal regression syndrome
- caudal dysplasia sequence see Caudal regression syndrome
- caudal regression sequence see Caudal regression syndrome
- Caudal regression syndrome
- CAV3-related distal myopathy
- CAVD see Congenital bilateral absence of the vas deferens
- Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
- CBAS1 see Congenital bile acid synthesis defect type 1
- CBAS2 see Congenital bile acid synthesis defect type 2
- CBAVD see Congenital bilateral absence of the vas deferens
- CBF acute myeloid leukemia see Core binding factor acute myeloid leukemia
- CBF-AML see Core binding factor acute myeloid leukemia
- CBG deficiency see Corticosteroid-binding globulin deficiency
- CC see Cholangiocarcinoma
- CC2L see CLCN2-related leukoencephalopathy
- CCA see Congenital contractural arachnodactyly
- CCD see Central core disease
- CCFDN see Congenital cataracts, facial dysmorphism, and neuropathy
- CCHD see Critical congenital heart disease
- CCHS see Congenital central hypoventilation syndrome
- CCM see Cerebral cavernous malformation
- CCO see Central core disease
- CD see Cowden syndrome
- CDA see Congenital dyserythropoietic anemia
- CDG Ia see PMM2-congenital disorder of glycosylation
- CDG Ig see ALG12-congenital disorder of glycosylation
- CDG IIi see COG5-congenital disorder of glycosylation
- CDG IIm see SLC35A2-congenital disorder of glycosylation
- CDG syndrome type Ic see ALG6-congenital disorder of glycosylation
- CDG syndrome type IIm see SLC35A2-congenital disorder of glycosylation
- CDG-IIm see SLC35A2-congenital disorder of glycosylation
- CDG1a see PMM2-congenital disorder of glycosylation
- CDG1C see ALG6-congenital disorder of glycosylation
- CDG1G see ALG12-congenital disorder of glycosylation
- CDG1K see ALG1-congenital disorder of glycosylation
- CDG1M see DOLK-congenital disorder of glycosylation
- CDG2I see COG5-congenital disorder of glycosylation
- CDG2M see SLC35A2-congenital disorder of glycosylation
- CDGIc see ALG6-congenital disorder of glycosylation
- CDGIIi see COG5-congenital disorder of glycosylation
- CDGIIm see SLC35A2-congenital disorder of glycosylation
- CDGIk see ALG1-congenital disorder of glycosylation
- CDGS1a see PMM2-congenital disorder of glycosylation
- CDHS see Craniofacial-deafness-hand syndrome
- CDKL5 deficiency see CDKL5 deficiency disorder
- CDKL5 deficiency disorder
- CDKL5 disorder see CDKL5 deficiency disorder
- CDKL5 encephalopathy see CDKL5 deficiency disorder
- CDKL5-related epilepsy see CDKL5 deficiency disorder
- CDKL5-related epileptic encephalopathy see CDKL5 deficiency disorder
- CdLS see Cornelia de Lange syndrome
- CDMD see CHST3-related skeletal dysplasia
- CDPX1 see X-linked chondrodysplasia punctata 1
- CDPX2 see X-linked chondrodysplasia punctata 2
- CDS see Chanarin-Dorfman syndrome
- CEBPA-dependent familial acute myeloid leukemia see Familial acute myeloid leukemia with mutated CEBPA
- CED see Cranioectodermal dysplasia
- CED see Camurati-Engelmann disease
- Celiac disease
- celiac sprue see Celiac disease
- Central core disease
- Central Core Myopathy see Central core disease
- central diabetes insipidus see Neurohypophyseal diabetes insipidus
- central nervous system cavernous hemangioma see Cerebral cavernous malformation
- central neurofibromatosis see Neurofibromatosis type 2
- Central precocious puberty
- Centronuclear myopathy
- cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
- ceramidase deficiency see Farber lipogranulomatosis
- ceramide trihexosidase deficiency see Fabry disease
- cerebellar ataxia and hypogonadotropic hypogonadism see Gordon Holmes syndrome
- cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome see Boucher-Neuhäuser syndrome
- cerebellar ataxia, deafness, and narcolepsy, autosomal dominant see Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- cerebellar disorder, nonprogressive, with mental retardation see VLDLR-associated cerebellar hypoplasia
- cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion see VLDLR-associated cerebellar hypoplasia
- cerebellar hypoplasia, VLDLR-associated see VLDLR-associated cerebellar hypoplasia
- cerebello-oculo-renal syndrome see Joubert syndrome
- cerebellooculorenal syndrome 1 see Joubert syndrome
- cerebelloretinal angiomatosis, familial see Von Hippel-Lindau syndrome
- cerebral amyloid angiopathy, familial see Hereditary cerebral amyloid angiopathy
- cerebral amyloid angiopathy, genetic see Hereditary cerebral amyloid angiopathy
- cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- cerebral cavernous hemangioma see Cerebral cavernous malformation
- Cerebral cavernous malformation
- cerebral cholesterinosis see Cerebrotendinous xanthomatosis
- cerebral creatine deficiency syndrome 3 see Arginine:glycine amidinotransferase deficiency
- cerebral folate deficiency see Cerebral folate transport deficiency
- Cerebral folate transport deficiency
- cerebral gigantism see Sotos syndrome
- cerebral sclerosis see Tuberous sclerosis complex
- cerebral sclerosis, diffuse, metachromatic form see Metachromatic leukodystrophy
- Cerebro-facio-thoracic dysplasia
- cerebro-frontofacial syndrome, type 3 see Baraitser-Winter syndrome
- cerebrofaciothoracic dysplasia see Cerebro-facio-thoracic dysplasia
- cerebrohepatorenal syndrome see Zellweger spectrum disorder
- Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
- cerebroocular dysplasia-muscular dystrophy syndrome see Walker-Warburg syndrome
- cerebrooculorenal syndrome see Lowe syndrome
- cerebroretinal microangiopathy with calcifications and cysts see Coats plus syndrome
- cerebroside lipidosis syndrome see Gaucher disease
- cerebroside sulphatase deficiency disease see Metachromatic leukodystrophy
- cerebrotendinous cholesterinosis see Cerebrotendinous xanthomatosis
- Cerebrotendinous xanthomatosis
- cerebrovascular ferrocalcinosis see Primary familial brain calcification
- cerebrovascular moyamoya disease see Moyamoya disease
- ceroid cipofuscinosis, neuronal, 4B, autosomal dominant see CLN4 disease
- ceroid lipofuscinosis neuronal 6 see CLN6 disease
- cervical fusion syndrome see Klippel-Feil syndrome
- cervical vertebral fusion see Klippel-Feil syndrome
- cervical vertebral fusion syndrome see Klippel-Feil syndrome
- CF see Cystic fibrosis
- CFC syndrome see Cardiofaciocutaneous syndrome
- CFEOM see Congenital fibrosis of the extraocular muscles
- CFM see Craniofacial microsomia
- CFSMR see Cerebro-facio-thoracic dysplasia
- CFTD see Congenital fiber-type disproportion
- CFTD see Cerebro-facio-thoracic dysplasia
- CFTDM see Congenital fiber-type disproportion
- CGD see Chronic granulomatous disease
- CGL see Chronic myeloid leukemia
- CH see Congenital hypothyroidism
- CHAC see Chorea-acanthocytosis
- Chanarin-Dorfman disease see Chanarin-Dorfman syndrome
- Chanarin-Dorfman syndrome
- channelopathy-associated insensitivity to pain see Congenital insensitivity to pain
- Char syndrome
- Charcot disease see Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth hereditary neuropathy see Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth syndrome see Charcot-Marie-Tooth disease
- CHARGE association see CHARGE syndrome
- CHARGE syndrome
- Charlevoix disease see Andermann syndrome
- Charlevoix-Saguenay spastic ataxia see Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- CHD2 encephalopathy see CHD2 myoclonic encephalopathy
- CHD2 myoclonic encephalopathy
- CHD2-related neurodevelopmental disorders see CHD2 myoclonic encephalopathy
- CHDM see Chordoma
- Chediak-Higashi syndrome
- Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
- Chemke syndrome see Walker-Warburg syndrome
- chemodectoma see Nonsyndromic paraganglioma
- Cheney syndrome see Hajdu-Cheney syndrome
- cherry red spot myoclonus syndrome see Sialidosis
- Cherubism
- cheveux incoiffables see Uncombable hair syndrome
- CHF see Congenital hepatic fibrosis
- CHH see Cartilage-hair hypoplasia
- CHILD syndrome see Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- Childhood absence epilepsy
- childhood ataxia with central nervous system hypomyelination see Leukoencephalopathy with vanishing white matter
- childhood epileptic encephalopathy with diffuse slow spikes and waves see Lennox-Gastaut syndrome
- Childhood myocerebrohepatopathy spectrum
- childhood-onset polyarteritis nodosa see Adenosine deaminase 2 deficiency
- childhood-onset primary osteoporosis see Juvenile primary osteoporosis
- CHMP2B-related frontotemporal dementia
- CHMRQ1 see VLDLR-associated cerebellar hypoplasia
- choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome see Burn-McKeown syndrome
- Cholangiocarcinoma
- cholangiocarcinoma of biliary tract see Cholangiocarcinoma
- cholangiocellular carcinoma see Cholangiocarcinoma
- cholestanol storage disease see Cerebrotendinous xanthomatosis
- cholestanolosis see Cerebrotendinous xanthomatosis
- cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency see Congenital bile acid synthesis defect type 2
- cholestasis with peripheral pulmonary stenosis see Alagille syndrome
- Cholesterol thesaurismosis see Tangier disease
- cholinesterase II deficiency see Pseudocholinesterase deficiency
- chondrodysplasia punctata 1, X-linked see X-linked chondrodysplasia punctata 1
- chondrodysplasia punctata 2, X-linked see X-linked chondrodysplasia punctata 2
- chondrodysplasia punctata, rhizomelic see Rhizomelic chondrodysplasia punctata
- chondrodysplasia with hemangioma see Maffucci syndrome
- chondrodysplasia with multiple dislocations see CHST3-related skeletal dysplasia
- chondrodystrophic myotonia see Schwartz-Jampel syndrome
- chondrodystrophy with sensorineural deafness see Otospondylomegaepiphyseal dysplasia
- chondrodystrophy, hydropic and prenatally lethal type see Greenberg dysplasia
- chondroectodermal dysplasia see Ellis-van Creveld syndrome
- chondroectodermal dysplasia-like syndrome see Asphyxiating thoracic dystrophy
- chondroplasia angiomatosis see Maffucci syndrome
- CHOPS syndrome
- chordocarcinoma see Chordoma
- chordoepithelioma see Chordoma
- Chordoma
- Chorea-acanthocytosis
- choreoacanthocytosis see Chorea-acanthocytosis
- choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
- choreoathetosis, hypothyroidism, and neonatal respiratory distress see Brain-lung-thyroid syndrome
- chorioretinal anomalies with ACC see Aicardi syndrome
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism see Boucher-Neuhäuser syndrome
- choroidal sclerosis see Choroideremia
- Choroideremia
- Chotzen syndrome see Saethre-Chotzen syndrome
- chreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction see Brain-lung-thyroid syndrome
- Christ-Siemens-Touraine syndrome see Hypohidrotic ectodermal dysplasia
- Christianson syndrome
- chromosome 11p11.2 deletion syndrome see Potocki-Shaffer syndrome
- chromosome 15q13.3 deletion syndrome see 15q13.3 microdeletion
- chromosome 15q15.3 deletion syndrome see Sensorineural deafness and male infertility
- chromosome 16p12.1 deletion syndrome, 520-kb see 16p12.2 microdeletion
- chromosome 17p deletion syndrome see Smith-Magenis syndrome
- chromosome 17p11.2 duplication syndrome see Potocki-Lupski syndrome
- chromosome 17q12 duplication syndrome see 17q12 duplication
- chromosome 17q21.31 microdeletion syndrome see Koolen-de Vries syndrome
- chromosome 18 deletion syndrome see Proximal 18q deletion syndrome
- chromosome 18 long arm deletion syndrome see Distal 18q deletion syndrome
- chromosome 18 long arm deletion syndrome see Proximal 18q deletion syndrome
- chromosome 18q deletion syndrome see Distal 18q deletion syndrome
- chromosome 18q monosomy see Distal 18q deletion syndrome
- chromosome 18q monosomy see Proximal 18q deletion syndrome
- chromosome 18q- syndrome see Distal 18q deletion syndrome
- chromosome 18q- syndrome see Proximal 18q deletion syndrome
- chromosome 19p13.13 deletion syndrome see 19p13.13 deletion syndrome
- chromosome 1p36 deletion syndrome see 1p36 deletion syndrome
- chromosome 1q21.1 deletion syndrome see 1q21.1 microdeletion
- chromosome 1q21.1 deletion syndrome, 1.35-Mb see 1q21.1 microdeletion
- chromosome 1q21.1 deletion syndrome, 200-KB see Thrombocytopenia-absent radius syndrome
- chromosome 22q11.2 duplication syndrome see 22q11.2 duplication
- chromosome 22q11.2 microduplication syndrome see 22q11.2 duplication
- chromosome 2q32-q33 deletion syndrome see SATB2-associated syndrome
- chromosome 2q37 deletion syndrome (disorder) see 2q37 deletion syndrome
- chromosome 3, deletion 3p see 3p deletion syndrome
- chromosome 3, monosomy 3p see 3p deletion syndrome
- chromosome 3-linked frontotemporal dementia see CHMP2B-related frontotemporal dementia
- chromosome 3p deletion syndrome see 3p deletion syndrome
- chromosome 3q29 deletion syndrome see 3q29 microdeletion syndrome
- chromosome 3q29 duplication syndrome see 3q29 microduplication syndrome
- chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome
- chromosome 4p monosomy see Wolf-Hirschhorn syndrome
- chromosome 5p- syndrome see Cri-du-chat syndrome
- chromosome 5q deletion syndrome see 5q minus syndrome
- chromosome 7q11.23 duplication see 7q11.23 duplication syndrome
- chromosome 7q11.23 duplication syndrome see 7q11.23 duplication syndrome
- chromosome 8q24.1 deletion syndrome see Trichorhinophalangeal syndrome type II
- chromosome 9q deletion syndrome see Kleefstra syndrome
- chromosome Xq26 microduplication syndrome see X-linked acrogigantism
- chromosome Xq26.3 duplication syndrome see X-linked acrogigantism
- chromosome XXXXY syndrome see 49,XXXXY syndrome
- Chronic atrial and intestinal dysrhythmia
- chronic congenital agenerative anemia see Diamond-Blackfan anemia
- chronic congenital idiopathic hyperphosphatasemia see Juvenile Paget disease
- chronic familial methemoglobin reductase deficiency see Autosomal recessive congenital methemoglobinemia
- chronic granulocytic leukemia see Chronic myeloid leukemia
- Chronic granulomatous disease
- chronic idiopathic intestinal pseudo-obstruction see Intestinal pseudo-obstruction
- chronic idiopathic jaundice see Dubin-Johnson syndrome
- chronic idiopathic jaundice with pigmented liver see Dubin-Johnson syndrome
- chronic idiopathic myelofibrosis see Primary myelofibrosis
- chronic infantile neurologic, cutaneous, and articular syndrome see Neonatal onset multisystem inflammatory disease
- chronic infantile neurological, cutaneous and articular syndrome see Neonatal onset multisystem inflammatory disease
- chronic lymphocytic thyroiditides see Hashimoto thyroiditis
- chronic lymphocytic thyroiditis see Hashimoto thyroiditis
- Chronic Motor and Vocal Tic Disorder see Tourette syndrome
- chronic myelocytic leukemia see Chronic myeloid leukemia
- chronic myelogenous leukemia see Chronic myeloid leukemia
- Chronic myeloid leukemia
- chronic myelomonocytic leukemia see PDGFRB-associated chronic eosinophilic leukemia
- chronic myeloproliferative disorder with eosinophilia see PDGFRB-associated chronic eosinophilic leukemia
- chronic neurologic, cutaneous, and articular syndrome see Neonatal onset multisystem inflammatory disease
- chronic progressive external ophthalmoplegia see Progressive external ophthalmoplegia
- chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis see Majeed syndrome
- CHS see Chediak-Higashi syndrome
- CHST3-related skeletal dysplasia
- CHT see Congenital hypothyroidism
- Chylomicron retention disease
- CID due to DOCK8 deficiency see DOCK8 immunodeficiency syndrome
- CID due to PGM3 deficiency see PGM3-congenital disorder of glycosylation
- CIIP see Intestinal pseudo-obstruction
- CINCA see Neonatal onset multisystem inflammatory disease
- CINCA syndrome see Neonatal onset multisystem inflammatory disease
- CIP see Congenital insensitivity to pain
- CIPA see Congenital insensitivity to pain with anhidrosis
- CIPO see Intestinal pseudo-obstruction
- cirrhosis, cryptogenic see Cryptogenic cirrhosis
- CISS see Cold-induced sweating syndrome
- CIT see Citrullinemia
- Citrullinemia
- citrullinuria see Citrullinemia
- classic Addison disease see Autoimmune Addison disease
- classic distal renal tubular acidosis see SLC4A1-associated distal renal tubular acidosis
- classic galactosemia see Galactosemia
- classic migraine see Migraine
- classic Refsum disease see Refsum disease
- classical lissencephaly see Isolated lissencephaly sequence
- classical lissencephaly syndrome see Miller-Dieker syndrome
- claw-shaped nails see Nonsyndromic congenital nail disorder 10
- CLCN2-related leukoencephalopathy
- cleft lip and/or palate with mucous cysts of lower lip see Van der Woude syndrome
- cleft spine see Spina bifida
- clefting, ectropion, and conical teeth see Blepharocheilodontic syndrome
- cleidocranial dysostosis see Cleidocranial dysplasia
- Cleidocranial dysplasia
- Clericuzio type poikiloderma with neutropenia see Poikiloderma with neutropenia
- clinical depression see Depression
- CLN1 see CLN1 disease
- CLN1 disease
- CLN10 see CLN10 disease
- CLN10 disease
- CLN2 disease
- CLN3 disease
- CLN3-related neuronal ceroid-lipofuscinosis see CLN3 disease
- CLN4 disease
- CLN4B see CLN4 disease
- CLN5 disease
- CLN6 disease
- CLN6-related neuronal ceroid lipofuscinosis see CLN6 disease
- CLN7 see CLN7 disease
- CLN7 disease
- CLN7 disease, late infantile see CLN7 disease
- CLN8 disease
- clonal eosinophilia with chronic myeloproliferative disorder see PDGFRB-associated chronic eosinophilic leukemia
- Clopidogrel resistance
- close sighted see Nearsightedness
- Clouston hidrotic ectodermal dysplasia see Clouston syndrome
- Clouston syndrome
- Clouston's syndrome see Clouston syndrome
- CLPB deficiency
- CLS see Coffin-Lowry syndrome
- CM-AVM see Capillary malformation-arteriovenous malformation syndrome
- CMAMMA see Combined malonic and methylmalonic aciduria
- CMD see Craniometaphyseal dysplasia
- CMD3B see X-linked dilated cardiomyopathy
- CMDD see Craniometaphyseal dysplasia
- CMDJ see Craniometaphyseal dysplasia
- CMDR see Craniometaphyseal dysplasia
- CML see Chronic myeloid leukemia
- CMM see Congenital mirror movement disorder
- CMO deficiency see Corticosterone methyloxidase deficiency
- CMRD see Chylomicron retention disease
- CMS see Congenital myasthenic syndrome
- CMT see Charcot-Marie-Tooth disease
- CN-AML see Cytogenetically normal acute myeloid leukemia
- CNM see X-linked myotubular myopathy
- CNM see Centronuclear myopathy
- CNTF receptor-related disorders see Cold-induced sweating syndrome
- co-contractive retraction syndrome see Isolated Duane retraction syndrome
- Coats plus syndrome
- Cockayne syndrome
- Cockayne-Pelizaeus-Merzbacher disease see Pelizaeus-Merzbacher disease
- COD-MD syndrome see Walker-Warburg syndrome
- coenzyme Q deficiency see Primary coenzyme Q10 deficiency
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- COG5-CDG see COG5-congenital disorder of glycosylation
- COG5-congenital disorder of glycosylation
- cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia see CHOPS syndrome
- Cohen syndrome
- cohesinopathy affecting heart and gut rhythm see Chronic atrial and intestinal dysrhythmia
- COL4A1-related brain small-vessel disease
- cold hypersensitivity see Familial cold autoinflammatory syndrome
- Cold-induced sweating syndrome
- Cole disease
- colitis gravis see Ulcerative colitis
- colitis, granulomatous see Crohn disease
- collagen type VI-related disorders see Collagen VI-related myopathy
- collagen VI-related myopathies see Collagen VI-related myopathy
- Collagen VI-related myopathy
- collodion baby see Lamellar ichthyosis
- collodion baby syndrome see Lamellar ichthyosis
- Coloboma
- coloboma of optic nerve with renal disease see Renal coloboma syndrome
- coloboma-ureteral-renal syndrome see Renal coloboma syndrome
- color blindness see Color vision deficiency
- color vision defects see Color vision deficiency
- Color vision deficiency
- ColVI myopathies see Collagen VI-related myopathy
- combined 17 alpha-hydroxylase/17,20-lyase deficiency see 17 alpha-hydroxylase/17,20-lyase deficiency
- combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase see Molybdenum cofactor deficiency
- combined deficiency of xanthine dehydrogenase and aldehyde oxidase see Hereditary xanthinuria
- combined immunodeficiency due to DOCK8 deficiency see DOCK8 immunodeficiency syndrome
- combined immunodeficiency due to PGM3 deficiency see PGM3-congenital disorder of glycosylation
- combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia see Spondyloenchondrodysplasia with immune dysregulation
- Combined malonic and methylmalonic aciduria
- combined molybdoflavoprotein enzyme deficiency see Molybdenum cofactor deficiency
- Combined oxidative phosphorylation deficiency 1
- combined oxidative phosphorylation deficiency 12 see Leukoencephalopathy with thalamus and brainstem involvement and high lactate
- combined partial deficiency of 17-hydroxylase and 21-hydroxylase see Cytochrome P450 oxidoreductase deficiency
- Combined pituitary hormone deficiency
- combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency see Molybdenum cofactor deficiency
- Comel-Netherton syndrome see Netherton syndrome
- common migraine see Migraine
- COMMON syndrome see BAP1 tumor predisposition syndrome
- common variable hypogammaglobulinemia see Common variable immune deficiency
- Common variable immune deficiency
- common variable immunodeficiency see Common variable immune deficiency
- complement 2 deficiency see Complement component 2 deficiency
- Complement component 2 deficiency
- complement component 3 inactivator deficiency see Complement factor I deficiency
- Complement component 8 deficiency
- Complement factor I deficiency
- complete HPRT deficiency see Lesch-Nyhan syndrome
- complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
- Complete LCAT deficiency
- complete PAI-1 deficiency see Complete plasminogen activator inhibitor 1 deficiency
- Complete plasminogen activator inhibitor 1 deficiency
- complete trisomy 13 syndrome see Trisomy 13
- complete trisomy 18 syndrome see Trisomy 18
- complex carbohydrate intolerance see Glucose-galactose malabsorption
- complex IV deficiency see Cytochrome c oxidase deficiency
- compression neuropathy see Hereditary neuropathy with liability to pressure palsies
- compression neuropathy, carpal tunnel see Carpal tunnel syndrome
- cone-rod degeneration see Cone-rod dystrophy
- Cone-rod dystrophy
- cone-rod retinal dystrophy see Cone-rod dystrophy
- congenital absence of brain see Anencephaly
- congenital absence of nails see Anonychia congenita
- congenital absence of skin on scalp see Nonsyndromic aplasia cutis congenita
- congenital absence of the uterus and vagina (CAUV) see Mayer-Rokitansky-Küster-Hauser syndrome
- congenital absence of vas deferens see Congenital bilateral absence of the vas deferens
- congenital adrenal hyperplasia 1 see 21-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency see 17 alpha-hydroxylase/17,20-lyase deficiency
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency see 21-hydroxylase deficiency
- congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency see Cytochrome P450 oxidoreductase deficiency
- congenital adrenal hyperplasia type 5 see 17 alpha-hydroxylase/17,20-lyase deficiency
- Congenital afibrinogenemia
- congenital agammaglobulinemia see X-linked agammaglobulinemia
- congenital agranulocytosis see Severe congenital neutropenia
- congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency see T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- congenital alveolar capillary dysplasia see Alveolar capillary dysplasia with misalignment of pulmonary veins
- congenital amaurosis of retinal origin see Leber congenital amaurosis
- congenital analgesia see Congenital insensitivity to pain
- congenital aneurysm of ascending aorta see Familial thoracic aortic aneurysm and dissection
- congenital aniridia see Aniridia
- Congenital anomalies of kidney and urinary tract
- Congenital Antithrombin III Deficiency see Hereditary antithrombin deficiency
- congenital aplasia of vas deferens see Congenital bilateral absence of the vas deferens
- congenital betalipoprotein deficiency syndrome see Abetalipoproteinemia
- Congenital bilateral absence of the vas deferens
- congenital bilateral absence of vas deferens see Congenital bilateral absence of the vas deferens
- Congenital bile acid synthesis defect type 1
- Congenital bile acid synthesis defect type 2
- congenital bullous poikiloderma see Kindler syndrome
- Congenital cataracts, facial dysmorphism, and neuropathy
- congenital central hypoventilation see Congenital central hypoventilation syndrome
- Congenital central hypoventilation syndrome
- Congenital contractural arachnodactyly
- congenital deafness with inner ear agenesis, microtia, and microdontia see Congenital deafness with labyrinthine aplasia, microtia, and microdontia
- congenital deafness with keratopachydermia and constrictions of fingers and toes see Vohwinkel syndrome
- Congenital deafness with labyrinthine aplasia, microtia, and microdontia
- congenital defect of folate absorption see Hereditary folate malabsorption
- congenital defect of the skull and scalp see Nonsyndromic aplasia cutis congenita
- congenital deficiency of the leptin receptor see Leptin receptor deficiency
- congenital diaphragmatic defect see Congenital diaphragmatic hernia
- Congenital diaphragmatic hernia
- congenital disorder of deglycosylation see NGLY1-congenital disorder of deglycosylation
- congenital disorder of glycosylation type 1G see ALG12-congenital disorder of glycosylation
- congenital disorder of glycosylation type 1K see ALG1-congenital disorder of glycosylation
- congenital disorder of glycosylation type Ia see PMM2-congenital disorder of glycosylation
- congenital disorder of glycosylation type Ic see ALG6-congenital disorder of glycosylation
- congenital disorder of glycosylation type Ig see ALG12-congenital disorder of glycosylation
- congenital disorder of glycosylation type IIi see COG5-congenital disorder of glycosylation
- congenital disorder of glycosylation, type IIm see SLC35A2-congenital disorder of glycosylation
- congenital disorder of glycosylation, type Im see DOLK-congenital disorder of glycosylation
- Congenital dyserythropoietic anemia
- congenital dysplastic angiopathy see Klippel-Trenaunay syndrome
- congenital dystrophia brevicollis see Klippel-Feil syndrome
- congenital ectopia lentis see Isolated ectopia lentis
- congenital enamel hypoplasia see Amelogenesis imperfecta
- congenital enteropathy see Microvillus inclusion disease
- congenital erythrocytosis see Familial erythrocytosis
- congenital erythroid hypoplastic anemia see Diamond-Blackfan anemia
- congenital external ophthalmoplegia see Congenital fibrosis of the extraocular muscles
- congenital facial diplegia see Moebius syndrome
- congenital failure of autonomic control see Congenital central hypoventilation syndrome
- congenital familial lymphedema see Milroy disease
- congenital familial protracted diarrhea with enterocyte brush-border abnormalities see Microvillus inclusion disease
- Congenital fiber-type disproportion
- congenital fibrose liver see Congenital hepatic fibrosis
- congenital fibrosis of extraocular muscles see Congenital fibrosis of the extraocular muscles
- Congenital fibrosis of the extraocular muscles
- congenital fibrosis syndrome see Congenital fibrosis of the extraocular muscles
- Congenital folate malabsorption see Hereditary folate malabsorption
- Congenital generalized lipodystrophy
- congenital giant pigmented nevus of skin see Giant congenital melanocytic nevus
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- Congenital hepatic fibrosis
- congenital hereditary hematuria see Alport syndrome
- congenital hereditary stromal dystrophy of the cornea see Congenital stromal corneal dystrophy
- congenital hyperammonemia, type I see Carbamoyl phosphate synthetase I deficiency
- Congenital hyperinsulinism
- congenital hypoaldosteronism see Corticosterone methyloxidase deficiency
- congenital hypoplasia of spleen see Isolated congenital asplenia
- congenital hypoplastic anemia of Blackfan and Diamond see Diamond-Blackfan anemia
- Congenital hypothyroidism
- congenital ichthyosiform erythroderma see Nonbullous congenital ichthyosiform erythroderma
- congenital icthyosis mental retardation spasticity syndrome see Sjögren-Larsson syndrome
- congenital indifference to pain see Congenital insensitivity to pain
- Congenital insensitivity to pain
- congenital insensitivity to pain see Hereditary sensory and autonomic neuropathy type V
- Congenital insensitivity to pain with anhidrosis
- congenital intestinal aganglionosis see Hirschsprung disease
- Congenital leptin deficiency
- Congenital Lipomatosis of Pancreas see Shwachman-Diamond syndrome
- Congenital lysinuria see Lysinuric protein intolerance
- congenital megacolon see Hirschsprung disease
- congenital melanocytic nevus syndrome see Giant congenital melanocytic nevus
- congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome
- congenital methemoglobinemia see Methemoglobinemia, beta-globin type
- congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency see Autosomal recessive congenital methemoglobinemia
- congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome see Asparagine synthetase deficiency
- congenital microvillous atrophy see Microvillus inclusion disease
- Congenital mirror movement disorder
- congenital mirror movements see Congenital mirror movement disorder
- congenital motor nystagmus see X-linked infantile nystagmus
- congenital muscular dystrophy with spine rigidity syndrome see Rigid spine muscular dystrophy
- congenital myasthenia see Congenital myasthenic syndrome
- Congenital myasthenic syndrome
- congenital myasthenic syndromes see Congenital myasthenic syndrome
- congenital myopathy with caps see Cap myopathy
- congenital myopathy with excess of thin filaments see Actin-accumulation myopathy
- congenital myopathy with fiber type disproportion see Congenital fiber-type disproportion
- Congenital myotonia see Myotonia congenita
- congenital myxedema see Congenital hypothyroidism
- congenital NADH-methemoglobin reductase deficiency see Autosomal recessive congenital methemoglobinemia
- congenital nephrogenic diabetes insipidus see Nephrogenic diabetes insipidus
- Congenital nephrotic syndrome
- congenital neuronal ceroid lipofuscinosis see CLN10 disease
- congenital neutropenia see Severe congenital neutropenia
- congenital nonbullous ichthyosiform erythroderma see Nonbullous congenital ichthyosiform erythroderma
- congenital ocular coloboma see Coloboma
- congenital ophthalmoplegia and facial paresis see Moebius syndrome
- congenital osteopetrosis see Osteopetrosis
- congenital oxaluria see Primary hyperoxaluria
- congenital pachyonychia see Pachyonychia congenita
- congenital pain indifference see Congenital insensitivity to pain
- congenital plasminogen activator inhibitor type 1 deficiency see Complete plasminogen activator inhibitor 1 deficiency
- Congenital plasminogen deficiency
- congenital poikiloderma see Rothmund-Thomson syndrome
- congenital pontocerebellar hypoplasia see Pontocerebellar hypoplasia
- congenital prekallikrein deficiency see Prekallikrein deficiency
- congenital progressive oculo-acoustico-cerebral degeneration see Norrie disease
- congenital pseudohydrocephalic progeroid syndrome see Wiedemann-Rautenstrauch syndrome
- congenital pure red cell anemia see Diamond-Blackfan anemia
- congenital pure red cell aplasia see Diamond-Blackfan anemia
- congenital reticular ichthyosiform erythroderma see Ichthyosis with confetti
- congenital retinal blindness see Leber congenital amaurosis
- congenital scalp defects with distal limb reduction anomalies see Adams-Oliver syndrome
- congenital scoliosis with unilateral unsegmented bar see Spondylocarpotarsal synostosis syndrome
- congenital sensory neuropathy see Hereditary sensory and autonomic neuropathy type II
- congenital sensory neuropathy with selective loss of small myelinated fibers see Hereditary sensory and autonomic neuropathy type V
- congenital short bowel syndrome see Intestinal pseudo-obstruction
- Congenital sideroblastic anaemia see X-linked sideroblastic anemia
- congenital spherocytic hemolytic anemia see Hereditary spherocytosis
- congenital spherocytosis see Hereditary spherocytosis
- congenital stiff-man syndrome see Hereditary hyperekplexia
- congenital stiff-person syndrome see Hereditary hyperekplexia
- Congenital stromal corneal dystrophy
- congenital stromal dystrophy of the cornea see Congenital stromal corneal dystrophy
- congenital Stuart factor deficiency see Factor X deficiency
- Congenital sucrase-isomaltase deficiency
- congenital sucrose intolerance see Congenital sucrase-isomaltase deficiency
- congenital sucrose-isomaltose malabsorption see Congenital sucrase-isomaltase deficiency
- congenital synspondylism see Spondylocarpotarsal synostosis syndrome
- congenital telangiectatic erythema see Bloom syndrome
- congenital ulcer of the newborn see Nonsyndromic aplasia cutis congenita
- congenital valvular heart disease see X-linked cardiac valvular dysplasia
- congenital X-linked retinoschisis see X-linked juvenile retinoschisis
- congestive cardiomyopathy see Familial dilated cardiomyopathy
- conical cornea see Keratoconus
- Conn adenoma see Aldosterone-producing adenoma
- conorenal dysplasia see Mainzer-Saldino syndrome
- conorenal syndrome see Mainzer-Saldino syndrome
- conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
- Conradi-Hünermann Syndrome see X-linked chondrodysplasia punctata 2
- Conradi-Hünermann-Happle syndrome see X-linked chondrodysplasia punctata 2
- constitutional liver dysfunction see Gilbert syndrome
- contraction of palmar fascia see Dupuytren contracture
- contractural arachnodactyly, congenital see Congenital contractural arachnodactyly
- copper storage disease see Wilson disease
- Copper transport disease see Menkes syndrome
- CoQ deficiency see Primary coenzyme Q10 deficiency
- CORD see Cone-rod dystrophy
- Core binding factor acute myeloid leukemia
- core-binding factor AML see Core binding factor acute myeloid leukemia
- Cori disease see Glycogen storage disease type III
- Cori's disease see Glycogen storage disease type III
- corneal dystrophy, congenital stromal see Congenital stromal corneal dystrophy
- corneal dystrophy, juvenile epithelial of Meesmann see Meesmann corneal dystrophy
- corneal dystrophy, Meesmann epithelial see Meesmann corneal dystrophy
- Cornelia de Lange syndrome
- corpus callosum agenesis-cataract-immunodeficiency syndrome see Vici syndrome
- corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, hydrocephalus syndrome see L1 syndrome
- CORS see Joubert syndrome
- Corticosteroid-binding globulin deficiency
- corticosterone 18-monooxygenase deficiency see Corticosterone methyloxidase deficiency
- corticosterone methyl oxidase deficiency see Corticosterone methyloxidase deficiency
- Corticosterone methyloxidase deficiency
- corticotropin-independent macronodular adrenal hyperplasia see Primary macronodular adrenal hyperplasia
- Costa de Morte ataxia see Spinocerebellar ataxia type 36
- Costeff optic atrophy syndrome see Costeff syndrome
- Costeff syndrome
- Costello syndrome
- coumadin sensitivity see Warfarin sensitivity
- coumarin resistance see Warfarin resistance
- Cowden disease see Cowden syndrome
- Cowden syndrome
- Cowden's disease see Cowden syndrome
- Cowden's syndrome see Cowden syndrome
- COX deficiency see Cytochrome c oxidase deficiency
- coxa plana see Legg-Calvé-Perthes disease
- COXPD1 see Combined oxidative phosphorylation deficiency 1
- COXPD12 see Leukoencephalopathy with thalamus and brainstem involvement and high lactate
- CPEO see Progressive external ophthalmoplegia
- CPHD see Combined pituitary hormone deficiency
- CPP see Central precocious puberty
- CPT 1A deficiency see Carnitine palmitoyltransferase I deficiency
- CPT deficiency, hepatic, type I see Carnitine palmitoyltransferase I deficiency
- CPT I deficiency see Carnitine palmitoyltransferase I deficiency
- CPT II deficiency see Carnitine palmitoyltransferase II deficiency
- CPT2 deficiency see Carnitine palmitoyltransferase II deficiency
- CPVT see Catecholaminergic polymorphic ventricular tachycardia
- craniocarpotarsal dysplasia see Freeman-Sheldon syndrome
- craniocarpotarsal dystrophy see Freeman-Sheldon syndrome
- Cranioectodermal dysplasia
- Craniofacial dysarthrosis see Crouzon syndrome
- craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome see Cerebro-facio-thoracic dysplasia
- Craniofacial Dysostosis see Crouzon syndrome
- Craniofacial dysostosis syndrome see Crouzon syndrome
- craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence see Gorlin-Chaudhry-Moss syndrome
- craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies see Gorlin-Chaudhry-Moss syndrome
- Craniofacial dysostosis, type 1; CFD1 see Crouzon syndrome
- Craniofacial microsomia
- Craniofacial-deafness-hand syndrome
- craniofacial-skeletal-dermatologic dysplasia see Pfeiffer syndrome
- craniofacial-ulnar-renal syndrome see 3MC syndrome
- Craniometaphyseal dysplasia
- craniometaphyseal dysplasia, Jackson type see Craniometaphyseal dysplasia
- cranioorodigital syndrome see Otopalatodigital syndrome type 2
- cranioorodigital syndrome see Otopalatodigital syndrome type 1
- cranioskeletal dysplasia with acro-osteolysis see Hajdu-Cheney syndrome
- craniosynostosis with lid anomalies see 3MC syndrome
- craniosynostosis with radial defects see Baller-Gerold syndrome
- craniosynostosis-radial aplasia syndrome see Baller-Gerold syndrome
- cranium bifidum see Enlarged parietal foramina
- cranium bifidum occultum see Enlarged parietal foramina
- CRASH syndrome see L1 syndrome
- CRB see Leber congenital amaurosis
- CRD see Cone-rod dystrophy
- CRD see Refsum disease
- creatine deficiency syndrome due to AGAT deficiency see Arginine:glycine amidinotransferase deficiency
- creatine deficiency syndrome due to GAMT deficiency see Guanidinoacetate methyltransferase deficiency
- creatine transporter defect see X-linked creatine deficiency
- creatine transporter deficiency see X-linked creatine deficiency
- Cree encephalitis see Aicardi-Goutières syndrome
- Cree leukoencephalopathy see Leukoencephalopathy with vanishing white matter
- cretinism see Congenital hypothyroidism
- Cri-du-chat syndrome
- CRIE see Ichthyosis with confetti
- Crigler Najjar syndrome see Crigler-Najjar syndrome
- Crigler-Najjar syndrome
- Crisponi syndrome see Cold-induced sweating syndrome
- critical congenital heart defects see Critical congenital heart disease
- Critical congenital heart disease
- CRMCC see Coats plus syndrome
- Crohn disease
- Crohn's disease see Crohn disease
- Crohn's enteritis see Crohn disease
- Cross-McKusick syndrome see Troyer syndrome
- Crouzon craniofacial dysostosis see Crouzon syndrome
- Crouzon syndrome
- Crouzon syndrome with acanthosis nigricans
- Crouzon's Disease see Crouzon syndrome
- Crouzonodermoskeletal syndrome see Crouzon syndrome with acanthosis nigricans
- Crouzons Disease see Crouzon syndrome
- Cryptogenic cirrhosis
- cryptogenic fibrosing alveolitis see Idiopathic pulmonary fibrosis
- cryptophthalmos syndactyly syndrome see Fraser syndrome
- cryptophthalmos syndrome see Fraser syndrome
- cryptophthalmos with other malformations see Fraser syndrome
- CS see Cockayne syndrome
- CS see Cowden syndrome
- CSCD see Congenital stromal corneal dystrophy
- CSID see Congenital sucrase-isomaltase deficiency
- CSNBAD see Autosomal dominant congenital stationary night blindness
- CSNU see Cystinuria
- CST syndrome see Hypohidrotic ectodermal dysplasia
- CTS see Carpal tunnel syndrome
- CTX see Cerebrotendinous xanthomatosis
- CUD see Primary carnitine deficiency
- Curry-Hall syndrome see Weyers acrofacial dysostosis
- Cushing disease
- cutaneous melanoma see Melanoma
- cutaneous ossification see Progressive osseous heteroplasia
- cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms see BAP1 tumor predisposition syndrome
- cutis gyrata syndrome of Beare and Stevenson see Beare-Stevenson cutis gyrata syndrome
- cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
- Cutis laxa
- CVD1 see X-linked cardiac valvular dysplasia
- CVID see Common variable immune deficiency
- CVS see Cyclic vomiting syndrome
- cyclic hematopoesis see Cyclic neutropenia
- cyclic leucopenia see Cyclic neutropenia
- Cyclic neutropenia
- Cyclic vomiting syndrome
- cyclical vomiting see Cyclic vomiting syndrome
- cyclical vomiting syndrome see Cyclic vomiting syndrome
- cylindromatosis, familial see Familial cylindromatosis
- CYP21 deficiency see 21-hydroxylase deficiency
- CYP2C19-related poor drug metabolism see Clopidogrel resistance
- cystathionine beta synthase deficiency see Homocystinuria
- cystic disease of ovaries see Polycystic ovary syndrome
- cystic disease of ovary see Polycystic ovary syndrome
- Cystic fibrosis
- cystic fibrosis of pancreas see Cystic fibrosis
- cystic leukoencephalopathy without megalencephaly see RNAse T2-deficient leukoencephalopathy
- cystine storage disease see Cystinosis
- Cystinosis
- Cystinuria
- cytochrome b5 reductase deficiency see Autosomal recessive congenital methemoglobinemia
- Cytochrome c oxidase deficiency
- Cytochrome P450 oxidoreductase deficiency
- cytochrome-c oxidase deficiency see Cytochrome c oxidase deficiency
- Cytogenetically normal acute myeloid leukemia
- Czech dysplasia
- Czech dysplasia, metatarsal type see Czech dysplasia
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD