Genetic Conditions: C

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• 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, familial, 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
• 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 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
• Cancer of the urinary bladder, see Bladder cancer
• Cancer, bladder, see Bladder cancer
• Cancer, urinary bladder, see Bladder 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
• CAPS, see Cryopyrin-associated periodic syndromes
• 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 complex type 1 , see Carney complex
• Carney complex type 2 , see 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
• Cavernoma, see Cerebral cavernous malformation
• Cavernous angioma, see Cerebral cavernous malformation
• 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
• CCS, see CYLD cutaneous syndrome
• CD, see Cowden syndrome
• CDA, see Congenital dyserythropoietic anemia
• CDC73-related disorders, see Hyperparathyroidism-jaw tumor syndrome
• 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 Iq, see SRD5A3-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
• CDG-Iq, see SRD5A3-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
• CEBALID, see MN1 C-terminal truncation syndrome
• CEBPA-dependent familial acute myeloid leukemia, see Familial acute myeloid leukemia with mutated CEBPA
• CED, see Camurati-Engelmann disease
• CED, see Cranioectodermal dysplasia
• Celiac disease
• Celiac sprue, see Celiac disease
• Central core disease
• Central core myopathy, see Central core disease
• Central diabetes insipidus, see Arginine vasopressin deficiency
• 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
• 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 lipofuscinosis neuronal 6, see CLN6 disease
• Ceroid lipofuscinosis, neuronal, 11, see CLN11 disease
• Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant, see CLN4 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
• CFD1, see Crouzon syndrome
• CFEOM, see Congenital fibrosis of the extraocular muscles
• CFM, see Craniofacial microsomia
• CFND, see Craniofrontonasal syndrome
• CFNS, see Craniofrontonasal syndrome
• 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 congenital insensitivity to pain
• Channelopathy-associated insensitivity to pain, see Channelopathy-associated 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 nevus, see CHILD syndrome
• CHILD syndrome
• Childhood absence epilepsy
• Childhood ataxia with central nervous system hypomyelination, see Leukoencephalopathy with vanishing white matter
• 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 10q26 deletion syndrome, see 10q26 deletion 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 Deafness-infertility syndrome
• 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 Proximal 18q deletion syndrome
• Chromosome 18 long arm deletion syndrome, see Distal 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 Proximal 18q deletion syndrome
• Chromosome 18q- syndrome, see Distal 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 eosinophilic leukemia with FIP1L1-PDGFRA, see PDGFRA-associated chronic eosinophilic leukemia
• 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 lymphocytic thyroiditides, see Hashimoto's disease
• Chronic lymphocytic thyroiditis, see Hashimoto's disease
• 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 with eosinophilia associated with t(5;12), see PDGFRB-associated chronic eosinophilic leukemia
• Chronic progressive external ophthalmoplegia, see Progressive external ophthalmoplegia
• Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis, see Majeed syndrome
• Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome, see Majeed syndrome
• Chronic relapsing thrombotic thrombocytopenic purpura, see Thrombotic thrombocytopenic purpura
• 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
• CIP, see Channelopathy-associated congenital insensitivity to pain
• CIP-SCN9A, see Channelopathy-associated 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
• 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
• CLN11 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
• 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 Centronuclear myopathy
• CNM, see X-linked myotubular 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
• Col6-RDs, see Collagen VI-related dystrophy
• Cold-induced sweating syndrome
• Cole disease
• Colitis gravis, see Ulcerative colitis
• Colitis, granulomatous, see Crohn's disease
• Collagen type VI-related disorders, see Collagen VI-related dystrophy
• Collagen VI-related dystrophies, see Collagen VI-related dystrophy
• Collagen VI-related dystrophy
• Collagen VI-related myopathies, see Collagen VI-related dystrophy
• Collagen VI-related myopathy, see Collagen VI-related dystrophy
• 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 dystrophy
• 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 Channelopathy-associated 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 epidermolysis bullosa
• 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 1q, see SRD5A3-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 anaemia, see Congenital dyserythropoietic anemia
• 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 glucose-galactose intolerance, see Glucose-galactose malabsorption
• Congenital glucose-galactose malabsorption, see Glucose-galactose malabsorption
• Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, see CHILD syndrome
• Congenital hemidysplasia with ichthyosiform nevus and limbs defects, see CHILD syndrome
• 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 Channelopathy-associated 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 muscular dystrophy, Fukuyama type, see Fukuyama congenital 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 Arginine vasopressin resistance
• 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 Channelopathy-associated 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
• Constitutional mismatch repair deficiency 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, 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 defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development, see MN1 C-terminal truncation syndrome
• 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 type 1, 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 microsomia
• Craniofacial-deafness-hand syndrome
• Craniofacial-skeletal-dermatologic dysplasia, see Pfeiffer syndrome
• Craniofacial-ulnar-renal syndrome, see 3MC syndrome
• Craniofrontonasal dysplasia, see Craniofrontonasal syndrome
• Craniofrontonasal dystosis, see Craniofrontonasal syndrome
• Craniofrontonasal 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 Refsum disease
• CRD, see Cone-rod dystrophy
• 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
• CRM01, see Majeed syndrome
• CRMCC, see Coats plus syndrome
• Crohn disease, see Crohn's disease
• Crohn's disease
• Crohn's enteritis, see Crohn's disease
• Crouzon craniofacial dysostosis, see Crouzon syndrome
• Crouzon disease, see Crouzon syndrome
• Crouzon syndrome
• Crouzon syndrome with acanthosis nigricans
• Crouzon's disease, see Crouzon syndrome
• Crouzonodermoskeletal syndrome, see Crouzon syndrome with acanthosis nigricans
• CRS, see Caudal regression syndrome
• Cryopyrin-associated periodic syndromes
• Cryopyrinopathy, see Cryopyrin-associated periodic syndromes
• 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
• CSS, see Coffin-Siris syndrome
• CST syndrome, see Hypohidrotic ectodermal dysplasia
• CTS, see Carpal tunnel syndrome
• CTX, see Cerebrotendinous xanthomatosis
• CUD, see Primary carnitine deficiency
• CUL3-related neurodevelopmental disorder
• 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
• Cyclin-dependent kinase-like 5 deficiency disorder, see CDKL5 deficiency disorder
• CYLD cutaneous syndrome
• 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, metatarsal type, see Spondyloepiphyseal dysplasia with metatarsal shortening