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
- 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 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 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
- 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 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 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
- 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
- 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 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, 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 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 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
- 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