Health Conditions - Genetics Home Reference: C-3 [RARE DISEASES LIBRARY]

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• 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
• 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
• 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 prostate, see prostate cancer
• 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
• 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
• 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
• 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 Camurati-Engelmann disease
• CED, see cranioectodermal dysplasia
• celiac disease
• celiac sprue, see celiac disease
• central core disease
• Central Core Myopathy, see central core disease
• central diabetes insipidus, see 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 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
• cervical fusion syndrome, see Klippel-Feil syndrome
• cervical vertebral fusion, see Klippel-Feil syndrome
• cervical vertebral fusion syndrome, see Klippel-Feil syndrome
• CESD, see cholesteryl ester storage disease
• 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 acronym (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness), see CHARGE syndrome
• CHARGE association, see CHARGE syndrome
• CHARGE syndrome
• Charlevoix disease, see Andermann syndrome
• Charlevoix-Saguenay spastic ataxia, see autosomal recessive spastic ataxia of Charlevoix-Saguenay
• 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
• 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 ester hydrolase deficiency, see cholesteryl ester storage disease
• cholesterol ester storage disease, see cholesteryl ester storage disease
• Cholesterol thesaurismosis, see Tangier disease
• cholesteryl ester storage 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
• 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
• 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 17p deletion syndrome, see Smith-Magenis syndrome
• chromosome 17q21.31 microdeletion syndrome, see Koolen-de Vries syndrome
• chromosome 18 long arm deletion syndrome, see 18q deletion syndrome
• chromosome 18q deletion syndrome, see 18q deletion syndrome
• chromosome 18q monosomy, see 18q deletion syndrome
• chromosome 18q- syndrome, see 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 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 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 9q deletion syndrome, see Kleefstra syndrome
• chronic atrial and intestinal dysrhythmia
• chronic congenital agenerative anemia, see Diamond-Blackfan anemia
• chronic congenital idiopathic hyperphosphatasemia, see juvenile Paget disease
• chronic familial methemoglobin reductase deficiency, see autosomal recessive congenital methemoglobinemia
• chronic granulocytic leukemia, see chronic myeloid leukemia
• chronic granulomatous disease
• chronic idiopathic intestinal pseudo-obstruction, see intestinal pseudo-obstruction
• chronic idiopathic 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, seeMajeed 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
• 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
• cleft lip and/or palate with mucous cysts of lower lip, see van der Woude syndrome
• cleft spine, see spina bifida
• cleidocranial dysostosis, see cleidocranial dysplasia
• cleidocranial dysplasia
• CLN1, see infantile neuronal ceroid lipofuscinosis
• CLN10, see CLN10 disease
• CLN10 disease
• CLN3-related neuronal ceroid-lipofuscinosis, see juvenile Batten disease
• CLN4A, see Kufs 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
• 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 DMD-associated 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
• 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 nonbullous congenital ichthyosiform erythroderma
• 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, seespondyloenchondrodysplasia with immune dysregulation
• combined malonic and methylmalonic aciduria
• combined molybdoflavoprotein enzyme deficiency, see molybdenum cofactor deficiency
• 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 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 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 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 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 icthyosis mental retardation spasticity syndrome, see Sjögren-Larsson syndrome
• congenital indifference to pain, see congenital insensitivity to pain
• congenital insensitivity to pain, see hereditary sensory and autonomic neuropathy type V
• congenital insensitivity to pain
• 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 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
• 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
• 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
• 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
• 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, 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 Refsum disease
• CRD, see cone-rod dystrophy
• creatine deficiency syndrome due to AGAT deficiency, see arginine:glycine amidinotransferase deficiency
• creatine deficiency syndrome due to GAMT deficiency, see guanidinoacetate methyltransferase deficiency
• creatine transporter defect, see X-linked creatine deficiency
• creatine transporter deficiency, see X-linked creatine deficiency
• Cree encephalitis, see Aicardi-Goutieres 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, see Crouzonodermoskeletal syndrome
• Crouzon's Disease, see Crouzon syndrome
• Crouzonodermoskeletal syndrome
• 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 Cowden syndrome
• CS, see Cockayne 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
• 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 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