Health Conditions
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, 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
- calcifying epithelioma of Malherbe, see Pilomatricoma
- callosal agenesis and ocular abnormalities, see Aicardi syndrome
- Calve-Perthes disease, see Legg-Calvé-Perthes disease
- campomelic dwarfism, see Campomelic dysplasia
- Campomelic dysplasia
- campomelic syndrome, see Campomelic dysplasia
- camptodactyly-overgrowth-unusual facies, see Weaver syndrome
- camptomelic dysplasia, see Campomelic dysplasia
- Camurati-Engelmann disease
- Camurati-Engelmann syndrome, see Camurati-Engelmann disease
- CAN, see Crouzon syndrome with acanthosis nigricans
- Canale-Smith syndrome, see Autoimmune lymphoproliferative syndrome
- Canavan disease
- Canavan's disease, see Canavan disease
- cancer family syndrome, see Lynch syndrome
- cancer of breast, see Breast cancer
- cancer of bronchus, see Lung cancer
- Cancer of the bladder, see Bladder cancer
- cancer of the lung, see Lung cancer
- cancer of the ovary, see Ovarian cancer
- cancer of the parathyroid, see Parathyroid cancer
- cancer of the parathyroid gland, see Parathyroid cancer
- cancer of the prostate, see Prostate cancer
- candle wax disease, see Melorheostosis
- Cannon's disease, see White sponge nevus
- Cantu syndrome, see Cantú syndrome
- Cantú syndrome
- cap disease, see Cap myopathy
- Cap myopathy
- capillary malformation-arteriovenous malformation, see Capillary malformation-arteriovenous malformation syndrome
- Capillary malformation-arteriovenous malformation syndrome
- CARASIL, see Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Carbamoyl phosphate synthetase I deficiency
- carbamoyl-phosphate synthase I deficiency disease, see Carbamoyl phosphate synthetase I deficiency
- carbamyl-phosphate synthetase I deficiency disease, see Carbamoyl phosphate synthetase I deficiency
- carbohydrate deficient glycoprotein syndrome type IIi, see COG5-congenital disorder of glycosylation
- carbohydrate deficient glycoprotein syndrome type Ik, see ALG1-congenital disorder of glycosylation
- carbohydrate intolerance, see Glucose-galactose malabsorption
- carbohydrate-deficient glycoprotein syndrome type Ia, see PMM2-congenital disorder of glycosylation
- carbohydrate-deficient glycoprotein syndrome type Ic, see ALG6-congenital disorder of glycosylation
- carbohydrate-deficient glycoprotein syndrome type V, see ALG6-congenital disorder of glycosylation
- Carbonic anhydrase VA deficiency
- carbonic anhydrase XII deficiency, see Isolated hyperchlorhidrosis
- carboxylase deficiency, multiple, late-onset, see Biotinidase deficiency
- carcinoma of parathyroid gland, see Parathyroid cancer
- cardiac 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 synostosis with dysplastic elbow joints and brachydactyly, see Liebenberg syndrome
- Carpenter syndrome
- Cartilage-hair hypoplasia
- cartilage-hair syndrome, see Cartilage-hair hypoplasia
- CAS, see FOXP2-related speech and language disorder
- CASK-related disorders, see CASK-related intellectual disability
- CASK-related intellectual disability
- cat cry syndrome, see Cri-du-chat syndrome
- catalase deficiency, see Acatalasemia
- CATCH22, see 22q11.2 deletion syndrome
- Catecholamine-induced polymorphic ventricular tachycardia, see Catecholaminergic polymorphic ventricular tachycardia
- Catecholaminergic polymorphic ventricular tachycardia
- cathepsin D deficiency, see CLN10 disease
- cathepsin D deficient neuronal ceroid lipofuscinosis, see CLN10 disease
- Catlin marks, see Enlarged parietal foramina
- CATSPER-related nonsyndromic male infertility, see CATSPER1-related nonsyndromic male infertility
- CATSPER1-related male infertility, see CATSPER1-related nonsyndromic male infertility
- CATSPER1-related nonsyndromic male infertility
- caudal dysgenesis syndrome, see Caudal regression syndrome
- caudal dysplasia sequence, see Caudal regression syndrome
- caudal regression sequence, see Caudal regression syndrome
- Caudal regression syndrome
- CAV3-related distal myopathy
- CAVD, see Congenital bilateral absence of the vas deferens
- Cayler cardiofacial syndrome, see 22q11.2 deletion syndrome
- CBAS1, see Congenital bile acid synthesis defect type 1
- CBAS2, see Congenital bile acid synthesis defect type 2
- CBAVD, see Congenital bilateral absence of the vas deferens
- CBF acute myeloid leukemia, see Core binding factor acute myeloid leukemia
- CBF-AML, see Core binding factor acute myeloid leukemia
- CBG deficiency, see Corticosteroid-binding globulin deficiency
- CC, see Cholangiocarcinoma
- CC2L, see CLCN2-related leukoencephalopathy
- CCA, see Congenital contractural arachnodactyly
- CCD, see Central core disease
- CCFDN, see Congenital cataracts, facial dysmorphism, and neuropathy
- CCHD, see Critical congenital heart disease
- CCHS, see Congenital central hypoventilation syndrome
- CCM, see Cerebral cavernous malformation
- CCO, see Central core disease
- CD, see Cowden syndrome
- CDA, see Congenital dyserythropoietic anemia
- CDG Ia, see PMM2-congenital disorder of glycosylation
- CDG Ig, see ALG12-congenital disorder of glycosylation
- CDG IIi, see COG5-congenital disorder of glycosylation
- CDG syndrome type Ic, see ALG6-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
- CDGIc, see ALG6-congenital disorder of glycosylation
- CDGIIi, see COG5-congenital disorder of glycosylation
- CDGIk, see ALG1-congenital disorder of glycosylation
- CDGS1a, see PMM2-congenital disorder of glycosylation
- CDHS, see Craniofacial-deafness-hand syndrome
- CDKL5 deficiency, see CDKL5 deficiency disorder
- CDKL5 deficiency disorder
- CDKL5 disorder, see CDKL5 deficiency disorder
- CDKL5 encephalopathy, see CDKL5 deficiency disorder
- CDKL5-related epilepsy, see CDKL5 deficiency disorder
- CDKL5-related epileptic encephalopathy, see CDKL5 deficiency disorder
- CdLS, see Cornelia de Lange syndrome
- CDMD, see CHST3-related skeletal dysplasia
- CDPX1, see X-linked chondrodysplasia punctata 1
- CDPX2, see X-linked chondrodysplasia punctata 2
- CDS, see Chanarin-Dorfman syndrome
- CEBPA-dependent familial acute myeloid leukemia, see Familial acute myeloid leukemia with mutated CEBPA
- CED, see Cranioectodermal dysplasia
- CED, see Camurati-Engelmann disease
- Celiac disease
- celiac sprue, see Celiac disease
- Central core disease
- Central Core Myopathy, see Central core disease
- central diabetes insipidus, see Neurohypophyseal diabetes insipidus
- central nervous system cavernous hemangioma, see Cerebral cavernous malformation
- central neurofibromatosis, see Neurofibromatosis type 2
- Central precocious puberty
- Centronuclear myopathy
- cephalopolysyndactyly syndrome, see Greig cephalopolysyndactyly syndrome
- ceramidase deficiency, see Farber lipogranulomatosis
- ceramide trihexosidase deficiency, see Fabry disease
- cerebellar ataxia and hypogonadotropic hypogonadism, see Gordon Holmes syndrome
- cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome, see Boucher-Neuhäuser syndrome
- cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, see Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- cerebellar disorder, nonprogressive, with mental retardation, see VLDLR-associated cerebellar hypoplasia
- cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, see VLDLR-associated cerebellar hypoplasia
- cerebellar hypoplasia, VLDLR-associated, see VLDLR-associated cerebellar hypoplasia
- cerebello-oculo-renal syndrome, see Joubert syndrome
- cerebellooculorenal syndrome 1, see Joubert syndrome
- cerebelloretinal angiomatosis, familial, see Von Hippel-Lindau syndrome
- cerebral amyloid angiopathy, familial, see Hereditary cerebral amyloid angiopathy
- cerebral amyloid angiopathy, genetic, see Hereditary cerebral amyloid angiopathy
- cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- cerebral cavernous hemangioma, see Cerebral cavernous malformation
- Cerebral cavernous malformation
- cerebral cholesterinosis, see Cerebrotendinous xanthomatosis
- cerebral creatine deficiency syndrome 3, see Arginine:glycine amidinotransferase deficiency
- cerebral folate deficiency, see Cerebral folate transport deficiency
- Cerebral folate transport deficiency
- cerebral gigantism, see Sotos syndrome
- cerebral sclerosis, see Tuberous sclerosis complex
- cerebral sclerosis, diffuse, metachromatic form, see Metachromatic leukodystrophy
- cerebro-frontofacial syndrome, type 3, see Baraitser-Winter syndrome
- cerebrohepatorenal syndrome, see Zellweger spectrum disorder
- Cerebromuscular dystrophy, Fukuyama type, see Fukuyama congenital muscular dystrophy
- cerebroocular dysplasia-muscular dystrophy syndrome, see Walker-Warburg syndrome
- cerebrooculorenal syndrome, see Lowe syndrome
- cerebroretinal microangiopathy with calcifications and cysts, see Coats plus syndrome
- cerebroside lipidosis syndrome, see Gaucher disease
- cerebroside sulphatase deficiency disease, see Metachromatic leukodystrophy
- cerebrotendinous cholesterinosis, see Cerebrotendinous xanthomatosis
- Cerebrotendinous xanthomatosis
- cerebrovascular ferrocalcinosis, see Familial idiopathic basal ganglia calcification
- cerebrovascular moyamoya disease, see Moyamoya disease
- ceroid cipofuscinosis, neuronal, 4B, autosomal dominant, see CLN4 disease
- ceroid lipofuscinosis neuronal 6, see CLN6 disease
- cervical fusion syndrome, see Klippel-Feil syndrome
- cervical vertebral fusion, see Klippel-Feil syndrome
- cervical vertebral fusion syndrome, see Klippel-Feil syndrome
- CF, see Cystic fibrosis
- CFC syndrome, see Cardiofaciocutaneous syndrome
- CFEOM, see Congenital fibrosis of the extraocular muscles
- CFM, see Craniofacial microsomia
- CFTD, see Congenital fiber-type disproportion
- CFTDM, see Congenital fiber-type disproportion
- CGD, see Chronic granulomatous disease
- CGL, see Chronic myeloid leukemia
- CH, see Congenital hypothyroidism
- CHAC, see Chorea-acanthocytosis
- Chanarin-Dorfman disease, see Chanarin-Dorfman syndrome
- Chanarin-Dorfman syndrome
- channelopathy-associated insensitivity to pain, see Congenital insensitivity to pain
- Char syndrome
- Charcot disease, see Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth hereditary neuropathy, see Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth syndrome, see Charcot-Marie-Tooth disease
- CHARGE association, see CHARGE syndrome
- CHARGE syndrome
- Charlevoix disease, see Andermann syndrome
- Charlevoix-Saguenay spastic ataxia, see Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- CHD2 encephalopathy, see CHD2 myoclonic encephalopathy
- CHD2 myoclonic encephalopathy
- CHD2-related neurodevelopmental disorders, see CHD2 myoclonic encephalopathy
- CHDM, see Chordoma
- Chediak-Higashi syndrome
- Chediak-Steinbrinck-Higashi syndrome, see Chediak-Higashi syndrome
- Chemke syndrome, see Walker-Warburg syndrome
- chemodectoma, see Nonsyndromic paraganglioma
- Cheney syndrome, see Hajdu-Cheney syndrome
- cherry red spot myoclonus syndrome, see Sialidosis
- Cherubism
- cheveux incoiffables, see Uncombable hair syndrome
- CHF, see Congenital hepatic fibrosis
- CHH, see Cartilage-hair hypoplasia
- CHILD syndrome, see Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- childhood apraxia of speech, see FOXP2-related speech and language disorder
- childhood ataxia with central nervous system hypomyelination, see Leukoencephalopathy with vanishing white matter
- childhood epileptic encephalopathy with diffuse slow spikes and waves, see Lennox-Gastaut syndrome
- Childhood myocerebrohepatopathy spectrum
- childhood-onset polyarteritis nodosa, see Adenosine deaminase 2 deficiency
- childhood-onset primary osteoporosis, see Juvenile primary osteoporosis
- CHMP2B-related frontotemporal dementia
- CHMRQ1, see VLDLR-associated cerebellar hypoplasia
- choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, see Burn-McKeown syndrome
- Cholangiocarcinoma
- cholangiocarcinoma of biliary tract, see Cholangiocarcinoma
- cholangiocellular carcinoma, see Cholangiocarcinoma
- cholestanol storage disease, see Cerebrotendinous xanthomatosis
- cholestanolosis, see Cerebrotendinous xanthomatosis
- cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, see Congenital bile acid synthesis defect type 2
- cholestasis with peripheral pulmonary stenosis, see Alagille syndrome
- Cholesterol thesaurismosis, see Tangier disease
- cholinesterase II deficiency, see Pseudocholinesterase deficiency
- chondrodysplasia punctata 1, X-linked, see X-linked chondrodysplasia punctata 1
- chondrodysplasia punctata 2, X-linked, see X-linked chondrodysplasia punctata 2
- chondrodysplasia punctata, rhizomelic, see Rhizomelic chondrodysplasia punctata
- chondrodysplasia with hemangioma, see Maffucci syndrome
- chondrodysplasia with multiple dislocations, see CHST3-related skeletal dysplasia
- chondrodystrophic myotonia, see Schwartz-Jampel syndrome
- chondrodystrophy with sensorineural deafness, see Otospondylomegaepiphyseal dysplasia
- chondrodystrophy, hydropic and prenatally lethal type, see Greenberg dysplasia
- chondroectodermal dysplasia, see Ellis-van Creveld syndrome
- chondroectodermal dysplasia-like syndrome, see Asphyxiating thoracic dystrophy
- chondroplasia angiomatosis, see Maffucci syndrome
- CHOPS syndrome
- chordocarcinoma, see Chordoma
- chordoepithelioma, see Chordoma
- Chordoma
- Chorea-acanthocytosis
- choreoacanthocytosis, see Chorea-acanthocytosis
- choreoathetosis self-mutilation syndrome, see Lesch-Nyhan syndrome
- choreoathetosis, hypothyroidism, and neonatal respiratory distress, see Brain-lung-thyroid syndrome
- chorioretinal anomalies with ACC, see Aicardi syndrome
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism, see Boucher-Neuhäuser syndrome
- choroidal sclerosis, see Choroideremia
- Choroideremia
- Chotzen syndrome, see Saethre-Chotzen syndrome
- chreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, see Brain-lung-thyroid syndrome
- Christ-Siemens-Touraine Syndrome, see Hypohidrotic ectodermal dysplasia
- Christianson syndrome
- chromosome 11p11.2 deletion syndrome, see Potocki-Shaffer syndrome
- chromosome 15q13.3 deletion syndrome, see 15q13.3 microdeletion
- chromosome 15q15.3 deletion syndrome, see Sensorineural deafness and male infertility
- chromosome 16p12.1 deletion syndrome, 520-kb, see 16p12.2 microdeletion
- chromosome 17p deletion syndrome, see Smith-Magenis syndrome
- chromosome 17p11.2 duplication syndrome, see Potocki-Lupski syndrome
- chromosome 17q12 duplication syndrome, see 17q12 duplication
- chromosome 17q21.31 microdeletion syndrome, see Koolen-de Vries syndrome
- chromosome 18 deletion syndrome, see Proximal 18q deletion syndrome
- chromosome 18 long arm deletion syndrome, see Distal 18q deletion syndrome
- chromosome 18 long arm deletion syndrome, see Proximal 18q deletion syndrome
- chromosome 18q deletion syndrome, see Distal 18q deletion syndrome
- chromosome 18q monosomy, see Distal 18q deletion syndrome
- chromosome 18q monosomy, see Proximal 18q deletion syndrome
- chromosome 18q- syndrome, see Distal 18q deletion syndrome
- chromosome 18q- syndrome, see Proximal 18q deletion syndrome
- chromosome 19p13.13 deletion syndrome, see 19p13.13 deletion syndrome
- chromosome 1p36 deletion syndrome, see 1p36 deletion syndrome
- chromosome 1q21.1 deletion syndrome, see 1q21.1 microdeletion
- chromosome 1q21.1 deletion syndrome, 1.35-Mb, see 1q21.1 microdeletion
- chromosome 1q21.1 deletion syndrome, 200-KB, see Thrombocytopenia-absent radius syndrome
- chromosome 22q11.2 duplication syndrome, see 22q11.2 duplication
- chromosome 22q11.2 microduplication syndrome, see 22q11.2 duplication
- chromosome 2q32-q33 deletion syndrome, see SATB2-associated syndrome
- chromosome 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
- Chronic atrial and intestinal dysrhythmia
- chronic congenital agenerative anemia, see Diamond-Blackfan anemia
- chronic congenital idiopathic hyperphosphatasemia, see Juvenile Paget disease
- chronic familial methemoglobin reductase deficiency, see Autosomal recessive congenital methemoglobinemia
- chronic granulocytic leukemia, see Chronic myeloid leukemia
- Chronic granulomatous disease
- chronic idiopathic intestinal pseudo-obstruction, see Intestinal pseudo-obstruction
- chronic idiopathic myelofibrosis, see Primary myelofibrosis
- chronic infantile neurologic, cutaneous, and articular syndrome, see Neonatal onset multisystem inflammatory disease
- chronic infantile neurological, cutaneous and articular syndrome, see Neonatal onset multisystem inflammatory disease
- chronic lymphocytic thyroiditides, see Hashimoto thyroiditis
- chronic lymphocytic thyroiditis, see Hashimoto thyroiditis
- Chronic Motor and Vocal Tic Disorder, see Tourette syndrome
- chronic myelocytic leukemia, see Chronic myeloid leukemia
- chronic myelogenous leukemia, see Chronic myeloid leukemia
- Chronic myeloid leukemia
- chronic myelomonocytic leukemia, see PDGFRB-associated chronic eosinophilic leukemia
- chronic myeloproliferative disorder with eosinophilia, see PDGFRB-associated chronic eosinophilic leukemia
- chronic neurologic, cutaneous, and articular syndrome, see Neonatal onset multisystem inflammatory disease
- chronic progressive external ophthalmoplegia, see Progressive external ophthalmoplegia
- chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis, see Majeed syndrome
- CHS, see Chediak-Higashi syndrome
- CHST3-related skeletal dysplasia
- CHT, see Congenital hypothyroidism
- Chylomicron retention disease
- CID due to DOCK8 deficiency, see Autosomal recessive hyper-IgE syndrome
- CIIP, see Intestinal pseudo-obstruction
- CINCA, see Neonatal onset multisystem inflammatory disease
- CINCA syndrome, see Neonatal onset multisystem inflammatory disease
- CIP, see Congenital insensitivity to pain
- CIPA, see Congenital insensitivity to pain with anhidrosis
- CIPO, see Intestinal pseudo-obstruction
- cirrhosis, cryptogenic, see Cryptogenic cirrhosis
- CISS, see Cold-induced sweating syndrome
- CIT, see Citrullinemia
- Citrullinemia
- citrullinuria, see Citrullinemia
- classic Addison disease, see Autoimmune Addison disease
- classic distal renal tubular acidosis, see SLC4A1-associated distal renal tubular acidosis
- classic galactosemia, see Galactosemia
- classic 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
- clinical depression, see Depression
- CLN1, see CLN1 disease
- CLN1 disease
- CLN10, see CLN10 disease
- CLN10 disease
- CLN2 disease
- CLN3 disease
- CLN3-related neuronal ceroid-lipofuscinosis, see CLN3 disease
- CLN4 disease
- CLN4B, see CLN4 disease
- CLN5 disease
- CLN6 disease
- CLN6-related neuronal ceroid lipofuscinosis, see CLN6 disease
- CLN7, see CLN7 disease
- CLN7 disease
- CLN7 disease, late infantile, see CLN7 disease
- CLN8 disease
- clonal eosinophilia with chronic myeloproliferative disorder, see PDGFRB-associated chronic eosinophilic leukemia
- Clopidogrel resistance
- Clouston hidrotic ectodermal dysplasia, see Clouston syndrome
- Clouston syndrome
- Clouston's syndrome, see Clouston syndrome
- CLPB deficiency
- CLS, see Coffin-Lowry syndrome
- CM-AVM, see Capillary malformation-arteriovenous malformation syndrome
- CMAMMA, see Combined malonic and methylmalonic aciduria
- CMD, see Craniometaphyseal dysplasia
- CMD3B, see X-linked dilated cardiomyopathy
- CMDD, see Craniometaphyseal dysplasia
- CMDJ, see Craniometaphyseal dysplasia
- CMDR, see Craniometaphyseal dysplasia
- CML, see Chronic myeloid leukemia
- CMM, see Congenital mirror movement disorder
- CMO deficiency, see Corticosterone methyloxidase deficiency
- CMRD, see Chylomicron retention disease
- CMS, see Congenital myasthenic syndrome
- CMT, see Charcot-Marie-Tooth disease
- CN-AML, see Cytogenetically normal acute myeloid leukemia
- CNM, see X-linked myotubular myopathy
- CNM, see Centronuclear myopathy
- CNTF receptor-related disorders, see Cold-induced sweating syndrome
- co-contractive retraction syndrome, see Isolated Duane retraction syndrome
- Coats plus syndrome
- Cockayne syndrome
- Cockayne-Pelizaeus-Merzbacher disease, see Pelizaeus-Merzbacher disease
- COD-MD syndrome, see Walker-Warburg syndrome
- coenzyme Q deficiency, see Primary coenzyme Q10 deficiency
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- COG5-CDG, see COG5-congenital disorder of glycosylation
- COG5-congenital disorder of glycosylation
- cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia, see CHOPS syndrome
- Cohen syndrome
- cohesinopathy affecting heart and gut rhythm, see Chronic atrial and intestinal dysrhythmia
- COL4A1-related brain small-vessel disease
- cold hypersensitivity, see Familial cold autoinflammatory syndrome
- Cold-induced sweating syndrome
- Cole disease
- colitis gravis, see Ulcerative colitis
- colitis, granulomatous, see Crohn disease
- collagen type VI-related disorders, see Collagen VI-related myopathy
- collagen VI-related myopathies, see Collagen VI-related myopathy
- Collagen VI-related myopathy
- collodion baby, see Lamellar ichthyosis
- collodion baby syndrome, see Lamellar ichthyosis
- Coloboma
- coloboma of optic nerve with renal disease, see Renal coloboma syndrome
- coloboma-ureteral-renal syndrome, see Renal coloboma syndrome
- color blindness, see Color vision deficiency
- color vision defects, see Color vision deficiency
- Color vision deficiency
- ColVI myopathies, see Collagen VI-related myopathy
- combined 17 alpha-hydroxylase/17,20-lyase deficiency, see 17 alpha-hydroxylase/17,20-lyase deficiency
- combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, see Molybdenum cofactor deficiency
- combined deficiency of xanthine dehydrogenase and aldehyde oxidase, see Hereditary xanthinuria
- combined immunodeficiency due to DOCK8 deficiency, see Autosomal recessive hyper-IgE syndrome
- 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 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
- cone-rod degeneration, see Cone-rod dystrophy
- Cone-rod dystrophy
- cone-rod retinal dystrophy, see Cone-rod dystrophy
- congenital absence of brain, see Anencephaly
- congenital absence of nails, see Anonychia congenita
- congenital absence of skin on scalp, see Nonsyndromic aplasia cutis congenita
- congenital absence of the uterus and vagina (CAUV), see Mayer-Rokitansky-Küster-Hauser syndrome
- Congenital absence of vas deferens, see Congenital bilateral absence of the vas deferens
- congenital adrenal hyperplasia 1, see 21-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, see 17 alpha-hydroxylase/17,20-lyase deficiency
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency, see 21-hydroxylase deficiency
- congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency, see Cytochrome P450 oxidoreductase deficiency
- congenital adrenal hyperplasia type 5, see 17 alpha-hydroxylase/17,20-lyase deficiency
- Congenital afibrinogenemia
- congenital agammaglobulinemia, see X-linked agammaglobulinemia
- congenital agranulocytosis, see Severe congenital neutropenia
- congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency, see T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- congenital alveolar capillary dysplasia, see Alveolar capillary dysplasia with misalignment of pulmonary veins
- congenital amaurosis of retinal origin, see Leber congenital amaurosis
- congenital analgesia, see Congenital insensitivity to pain
- congenital aneurysm of ascending aorta, see Familial thoracic aortic aneurysm and dissection
- congenital aniridia, see Aniridia
- Congenital Antithrombin III Deficiency, see Hereditary antithrombin deficiency
- Congenital aplasia of vas deferens, see Congenital bilateral absence of the vas deferens
- congenital betalipoprotein deficiency syndrome, see Abetalipoproteinemia
- Congenital bilateral absence of the vas deferens
- congenital bilateral absence of vas deferens, see Congenital bilateral absence of the vas deferens
- Congenital bile acid synthesis defect type 1
- Congenital bile acid synthesis defect type 2
- congenital bullous poikiloderma, see Kindler syndrome
- Congenital cataracts, facial dysmorphism, and neuropathy
- congenital central hypoventilation, see Congenital central hypoventilation syndrome
- Congenital central hypoventilation syndrome
- Congenital contractural arachnodactyly
- congenital deafness with inner ear agenesis, microtia, and microdontia, see Congenital deafness with labyrinthine aplasia, microtia, and microdontia
- congenital deafness with keratopachydermia and constrictions of fingers and toes, see Vohwinkel syndrome
- Congenital deafness with labyrinthine aplasia, microtia, and microdontia
- congenital defect of folate absorption, see Hereditary folate malabsorption
- congenital defect of the skull and scalp, see Nonsyndromic aplasia cutis congenita
- congenital deficiency of the leptin receptor, see Leptin receptor deficiency
- congenital diaphragmatic defect, see Congenital diaphragmatic hernia
- Congenital diaphragmatic hernia
- congenital disorder of deglycosylation, see NGLY1-congenital disorder of deglycosylation
- congenital disorder of glycosylation type 1G, see ALG12-congenital disorder of glycosylation
- congenital disorder of glycosylation type 1K, see ALG1-congenital disorder of glycosylation
- congenital disorder of glycosylation type Ia, see PMM2-congenital disorder of glycosylation
- congenital disorder of glycosylation type Ic, see ALG6-congenital disorder of glycosylation
- congenital disorder of glycosylation type Ig, see ALG12-congenital disorder of glycosylation
- congenital disorder of glycosylation type IIi, see COG5-congenital disorder of glycosylation
- congenital disorder of glycosylation, type Im, see DOLK-congenital disorder of glycosylation
- Congenital dyserythropoietic anemia
- congenital dysplastic angiopathy, see Klippel-Trenaunay syndrome
- congenital dystrophia brevicollis, see Klippel-Feil syndrome
- congenital ectopia lentis, see Isolated ectopia lentis
- congenital enamel hypoplasia, see Amelogenesis imperfecta
- congenital enteropathy, see Microvillus inclusion disease
- congenital erythrocytosis, see Familial erythrocytosis
- congenital erythroid hypoplastic anemia, see Diamond-Blackfan anemia
- congenital external ophthalmoplegia, see Congenital fibrosis of the extraocular muscles
- congenital facial diplegia, see Moebius syndrome
- congenital failure of autonomic control, see Congenital central hypoventilation syndrome
- congenital familial lymphedema, see Milroy disease
- congenital familial protracted diarrhea with enterocyte brush-border abnormalities, see Microvillus inclusion disease
- Congenital fiber-type disproportion
- congenital fibrose liver, see Congenital hepatic fibrosis
- congenital fibrosis of extraocular muscles, see Congenital fibrosis of the extraocular muscles
- Congenital fibrosis of the extraocular muscles
- congenital fibrosis syndrome, see Congenital fibrosis of the extraocular muscles
- Congenital folate malabsorption, see Hereditary folate malabsorption
- Congenital generalized lipodystrophy
- congenital giant pigmented nevus of skin, see Giant congenital melanocytic nevus
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- Congenital hepatic fibrosis
- congenital hereditary hematuria, see Alport syndrome
- congenital hereditary stromal dystrophy of the cornea, see Congenital stromal corneal dystrophy
- congenital hyperammonemia, type I, see Carbamoyl phosphate synthetase I deficiency
- Congenital hyperinsulinism
- congenital hypoaldosteronism, see Corticosterone methyloxidase deficiency
- congenital hypoplastic anemia of Blackfan and Diamond, see Diamond-Blackfan anemia
- Congenital hypothyroidism
- congenital ichthyosiform erythroderma, see Nonbullous congenital ichthyosiform erythroderma
- congenital icthyosis mental retardation spasticity syndrome, see Sjögren-Larsson syndrome
- congenital indifference to pain, see Congenital insensitivity to pain
- Congenital insensitivity to pain
- congenital insensitivity to pain, see Hereditary sensory and autonomic neuropathy type V
- Congenital insensitivity to pain with anhidrosis
- congenital intestinal aganglionosis, see Hirschsprung disease
- Congenital leptin deficiency
- Congenital Lipomatosis of Pancreas, see Shwachman-Diamond syndrome
- Congenital lysinuria, see Lysinuric protein intolerance
- congenital megacolon, see Hirschsprung disease
- congenital melanocytic nevus syndrome, see Giant congenital melanocytic nevus
- congenital mesodermal dysmorphodystrophy, see Weill-Marchesani syndrome
- congenital methemoglobinemia, see Methemoglobinemia, beta-globin type
- congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency, see Autosomal recessive congenital methemoglobinemia
- congenital 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 myasthenia, see Congenital myasthenic syndrome
- Congenital myasthenic syndrome
- congenital myasthenic syndromes, see Congenital myasthenic syndrome
- congenital myopathy with caps, see Cap myopathy
- congenital myopathy with excess of thin filaments, see Actin-accumulation myopathy
- congenital myopathy with fiber type disproportion, see Congenital fiber-type disproportion
- Congenital myotonia, see Myotonia congenita
- congenital myxedema, see Congenital hypothyroidism
- congenital NADH-methemoglobin reductase deficiency, see Autosomal recessive congenital methemoglobinemia
- congenital nephrogenic diabetes insipidus, see Nephrogenic diabetes insipidus
- Congenital nephrotic syndrome
- congenital neuronal ceroid lipofuscinosis, see CLN10 disease
- congenital neutropenia, see Severe congenital neutropenia
- congenital nonbullous ichthyosiform erythroderma, see Nonbullous congenital ichthyosiform erythroderma
- congenital ocular coloboma, see Coloboma
- congenital ophthalmoplegia and facial paresis, see Moebius syndrome
- congenital osteopetrosis, see Osteopetrosis
- congenital oxaluria, see Primary hyperoxaluria
- congenital pachyonychia, see Pachyonychia congenita
- congenital pain indifference, see Congenital insensitivity to pain
- congenital plasminogen activator inhibitor type 1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
- Congenital plasminogen deficiency
- congenital poikiloderma, see Rothmund-Thomson syndrome
- congenital pontocerebellar hypoplasia, see Pontocerebellar hypoplasia
- congenital prekallikrein deficiency, see Prekallikrein deficiency
- congenital progressive oculo-acoustico-cerebral degeneration, see Norrie disease
- congenital pure red cell anemia, see Diamond-Blackfan anemia
- congenital pure red cell aplasia, see Diamond-Blackfan anemia
- congenital reticular ichthyosiform erythroderma, see Ichthyosis with confetti
- congenital retinal blindness, see Leber congenital amaurosis
- congenital scalp defects with distal limb reduction anomalies, see Adams-Oliver syndrome
- congenital scoliosis with unilateral unsegmented bar, see Spondylocarpotarsal synostosis syndrome
- congenital sensory neuropathy, see Hereditary sensory and autonomic neuropathy type II
- congenital sensory neuropathy with selective loss of small myelinated fibers, see Hereditary sensory and autonomic neuropathy type V
- congenital short bowel syndrome, see Intestinal pseudo-obstruction
- Congenital sideroblastic anaemia, see X-linked sideroblastic anemia
- congenital spherocytic hemolytic anemia, see Hereditary spherocytosis
- congenital spherocytosis, see Hereditary spherocytosis
- congenital stiff-man syndrome, see Hereditary hyperekplexia
- congenital stiff-person syndrome, see Hereditary hyperekplexia
- Congenital stromal corneal dystrophy
- congenital stromal dystrophy of the cornea, see Congenital stromal corneal dystrophy
- congenital Stuart factor deficiency, see Factor X deficiency
- Congenital sucrase-isomaltase deficiency
- congenital sucrose intolerance, see Congenital sucrase-isomaltase deficiency
- congenital sucrose-isomaltose malabsorption, see Congenital sucrase-isomaltase deficiency
- congenital synspondylism, see Spondylocarpotarsal synostosis syndrome
- congenital telangiectatic erythema, see Bloom syndrome
- congenital ulcer of the newborn, see Nonsyndromic aplasia cutis congenita
- congenital valvular heart disease, see X-linked cardiac valvular dysplasia
- congenital X-linked retinoschisis, see X-linked juvenile retinoschisis
- congestive cardiomyopathy, see Familial dilated cardiomyopathy
- conical cornea, see Keratoconus
- Conn adenoma, see Aldosterone-producing adenoma
- conorenal dysplasia, see Mainzer-Saldino syndrome
- conorenal syndrome, see Mainzer-Saldino syndrome
- conotruncal anomaly face syndrome (CTAF), see 22q11.2 deletion syndrome
- Conradi-Hünermann Syndrome, see X-linked chondrodysplasia punctata 2
- Conradi-Hünermann-Happle syndrome, see X-linked chondrodysplasia punctata 2
- constitutional liver dysfunction, see Gilbert syndrome
- contraction of palmar fascia, see Dupuytren contracture
- contractural arachnodactyly, congenital, see Congenital contractural arachnodactyly
- copper storage disease, see Wilson disease
- Copper transport disease, see Menkes syndrome
- CoQ deficiency, see Primary coenzyme Q10 deficiency
- CORD, see Cone-rod dystrophy
- Core binding factor acute myeloid leukemia
- core-binding factor AML, see Core binding factor acute myeloid leukemia
- Cori disease, see Glycogen storage disease type III
- Cori's disease, see Glycogen storage disease type III
- corneal dystrophy, congenital stromal, see Congenital stromal corneal dystrophy
- corneal dystrophy, juvenile epithelial of Meesmann, see Meesmann corneal dystrophy
- corneal dystrophy, Meesmann epithelial, see Meesmann corneal dystrophy
- Cornelia de Lange syndrome
- corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, hydrocephalus syndrome, see L1 syndrome
- CORS, see Joubert syndrome
- Corticosteroid-binding globulin deficiency
- corticosterone 18-monooxygenase deficiency, see Corticosterone methyloxidase deficiency
- corticosterone methyl oxidase deficiency, see Corticosterone methyloxidase deficiency
- Corticosterone methyloxidase deficiency
- corticotropin-independent macronodular adrenal hyperplasia, see Primary macronodular adrenal hyperplasia
- Costa de Morte ataxia, see Spinocerebellar ataxia type 36
- Costeff optic atrophy syndrome, see Costeff syndrome
- Costeff syndrome
- Costello syndrome
- coumadin sensitivity, see Warfarin sensitivity
- coumarin resistance, see Warfarin resistance
- Cowden disease, see Cowden syndrome
- Cowden syndrome
- Cowden's disease, see Cowden syndrome
- Cowden's syndrome, see Cowden syndrome
- COX deficiency, see Cytochrome c oxidase deficiency
- coxa plana, see Legg-Calvé-Perthes disease
- COXPD1, see Combined oxidative phosphorylation deficiency 1
- COXPD12, see Leukoencephalopathy with thalamus and brainstem involvement and high lactate
- CPEO, see Progressive external ophthalmoplegia
- CPHD, see Combined pituitary hormone deficiency
- CPP, see Central precocious puberty
- CPT 1A deficiency, see Carnitine palmitoyltransferase I deficiency
- CPT deficiency, hepatic, type I, see Carnitine palmitoyltransferase I deficiency
- CPT I deficiency, see Carnitine palmitoyltransferase I deficiency
- CPT II deficiency, see Carnitine palmitoyltransferase II deficiency
- CPT2 deficiency, see Carnitine palmitoyltransferase II deficiency
- CPVT, see Catecholaminergic polymorphic ventricular tachycardia
- craniocarpotarsal dysplasia, see Freeman-Sheldon syndrome
- craniocarpotarsal dystrophy, see Freeman-Sheldon syndrome
- Cranioectodermal dysplasia
- Craniofacial dysarthrosis, see Crouzon syndrome
- Craniofacial Dysostosis, see Crouzon syndrome
- Craniofacial dysostosis syndrome, see Crouzon syndrome
- craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence, see Gorlin-Chaudhry-Moss syndrome
- craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, see Gorlin-Chaudhry-Moss syndrome
- Craniofacial dysostosis, type 1; CFD1, see Crouzon syndrome
- Craniofacial microsomia
- Craniofacial-deafness-hand syndrome
- craniofacial-skeletal-dermatologic dysplasia, see Pfeiffer syndrome
- craniofacial-ulnar-renal syndrome, see 3MC syndrome
- Craniometaphyseal dysplasia
- Craniometaphyseal dysplasia, Jackson type, see Craniometaphyseal dysplasia
- cranioorodigital syndrome, see Otopalatodigital syndrome type 2
- cranioorodigital syndrome, see Otopalatodigital syndrome type 1
- cranioskeletal dysplasia with acro-osteolysis, see Hajdu-Cheney syndrome
- craniosynostosis with lid anomalies, see 3MC syndrome
- craniosynostosis with radial defects, see Baller-Gerold syndrome
- craniosynostosis-radial aplasia syndrome, see Baller-Gerold syndrome
- cranium bifidum, see Enlarged parietal foramina
- cranium bifidum occultum, see Enlarged parietal foramina
- CRASH syndrome, see L1 syndrome
- CRB, see Leber congenital amaurosis
- CRD, see Cone-rod dystrophy
- CRD, see Refsum disease
- creatine deficiency syndrome due to AGAT deficiency, see Arginine:glycine amidinotransferase deficiency
- creatine deficiency syndrome due to GAMT deficiency, see Guanidinoacetate methyltransferase deficiency
- creatine transporter defect, see X-linked creatine deficiency
- creatine transporter deficiency, see X-linked creatine deficiency
- Cree encephalitis, see Aicardi-Goutières syndrome
- Cree leukoencephalopathy, see Leukoencephalopathy with vanishing white matter
- cretinism, see Congenital hypothyroidism
- Cri-du-chat syndrome
- CRIE, see Ichthyosis with confetti
- Crigler Najjar syndrome, see Crigler-Najjar syndrome
- Crigler-Najjar syndrome
- Crisponi syndrome, see Cold-induced sweating syndrome
- critical congenital heart defects, see Critical congenital heart disease
- Critical congenital heart disease
- CRMCC, see Coats plus syndrome
- Crohn disease
- Crohn's disease, see Crohn disease
- Crohn's enteritis, see Crohn disease
- Cross-McKusick syndrome, see Troyer syndrome
- Crouzon craniofacial dysostosis, see Crouzon syndrome
- Crouzon syndrome
- Crouzon syndrome with acanthosis nigricans
- Crouzon's Disease, see Crouzon syndrome
- Crouzonodermoskeletal syndrome, see Crouzon syndrome with acanthosis nigricans
- Crouzons Disease, see Crouzon syndrome
- Cryptogenic cirrhosis
- cryptogenic fibrosing alveolitis, see Idiopathic pulmonary fibrosis
- cryptophthalmos syndactyly syndrome, see Fraser syndrome
- cryptophthalmos syndrome, see Fraser syndrome
- cryptophthalmos with other malformations, see Fraser syndrome
- CS, see Cockayne syndrome
- CS, see Cowden syndrome
- CSCD, see Congenital stromal corneal dystrophy
- CSID, see Congenital sucrase-isomaltase deficiency
- CSNBAD, see Autosomal dominant congenital stationary night blindness
- CSNU, see Cystinuria
- CST syndrome, see Hypohidrotic ectodermal dysplasia
- CTX, see Cerebrotendinous xanthomatosis
- CUD, see Primary carnitine deficiency
- Curry-Hall syndrome, see Weyers acrofacial dysostosis
- Cushing disease
- cutaneous ossification, see Progressive osseous heteroplasia
- cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms, see BAP1 tumor predisposition syndrome
- cutis gyrata syndrome of Beare and Stevenson, see Beare-Stevenson cutis gyrata syndrome
- cutis gyrata syndrome of Beare-Stevenson, see Beare-Stevenson cutis gyrata syndrome
- Cutis laxa
- CVD1, see X-linked cardiac valvular dysplasia
- CVID, see Common variable immune deficiency
- CVS, see Cyclic vomiting syndrome
- cyclic hematopoesis, see Cyclic neutropenia
- cyclic leucopenia, see Cyclic neutropenia
- Cyclic neutropenia
- Cyclic vomiting syndrome
- cyclical vomiting, see Cyclic vomiting syndrome
- cyclical vomiting syndrome, see Cyclic vomiting syndrome
- cylindromatosis, familial, see Familial cylindromatosis
- CYP21 deficiency, see 21-hydroxylase deficiency
- CYP2C19-related poor drug metabolism, see Clopidogrel resistance
- cystathionine beta synthase deficiency, see Homocystinuria
- cystic disease of ovaries, see Polycystic ovary syndrome
- cystic disease of ovary, see Polycystic ovary syndrome
- Cystic fibrosis
- cystic fibrosis of pancreas, see Cystic fibrosis
- cystic leukoencephalopathy without megalencephaly, see RNAse T2-deficient leukoencephalopathy
- cystine storage disease, see Cystinosis
- Cystinosis
- Cystinuria
- cytochrome b5 reductase deficiency, see Autosomal recessive congenital methemoglobinemia
- Cytochrome c oxidase deficiency
- Cytochrome P450 oxidoreductase deficiency
- cytochrome-c oxidase deficiency, see Cytochrome c oxidase deficiency
- Cytogenetically normal acute myeloid leukemia
- Czech dysplasia
- Czech dysplasia, metatarsal type, see Czech dysplasia
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