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C1 esterase inhibitor deficiency see hereditary angioedema
C1 inhibitor deficiency see hereditary angioedema
C3 inactivator deficiency see complement factor I 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
CAH1 see 21-hydroxylase deficiency
calcifying epithelioma of Malherbe see pilomatricoma
callosal agenesis and ocular abnormalities see Aicardi syndrome
campomelic dysplasia
Camptomelic dysplasia see campomelic dysplasia
Camurati-Engelmann disease
Canale-Smith syndrome see autoimmune lymphoproliferative syndrome
Canavan disease
Cancer
cancer family syndrome see Lynch syndrome
Cancer of breast see breast cancer
Cancer of the bladder see bladder cancer
Cantú syndrome
cap myopathy
capillary malformation-arteriovenous malformation syndrome
CARASIL see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
carbamoyl phosphate synthetase I deficiency
carbamyl-phosphate synthetase I deficiency disease see carbamoyl phosphate synthetase I deficiency
carbohydrate-deficient glycoprotein syndrome type Ia see congenital disorder of glycosylation type Ia
carbohydrate intolerance see glucose-galactose malabsorption
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 multiple lentigines syndrome
cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome
cardiofaciocutaneous syndrome
Cardiomyopathy
Cardiomyopathy, Dilated see DMD-associated dilated cardiomyopathy
Cardiomyopathy, Hypertrophic see familial hypertrophic cardiomyopathy
cardiomyopathy, restrictive see familial restrictive cardiomyopathy
cardiovertebral syndrome see Alagille syndrome
Carmi syndrome see epidermolysis bullosa with pyloric atresia
Carney complex
carnitine-acylcarnitine translocase deficiency
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
Carpal Tunnel Syndrome see hereditary neuropathy with liability to pressure palsies
Carpenter syndrome
Cartilage Disorders see familial osteochondritis dissecans
cartilage-hair hypoplasia
cat cry syndrome see cri-du-chat syndrome
Cataract
CATCH22 see 22q11.2 deletion syndrome
Catecholamine-induced polymorphic ventricular tachycardia see catecholaminergic polymorphic ventricular tachycardia
catecholaminergic polymorphic ventricular tachycardia
Catlin marks see enlarged parietal foramina
CATSPER-related nonsyndromic male infertility see CATSPER1-related nonsyndromic male infertility
CATSPER1-related nonsyndromic male infertility
caudal regression syndrome
CAVD see congenital bilateral absence of the vas deferens
CAVE complex see Pallister-Hall syndrome
Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
CBAVD see congenital bilateral absence of the vas deferens
CCA see congenital contractural arachnodactyly
CCD see central core disease
CCFDN see congenital cataracts, facial dysmorphism, and neuropathy
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 congenital disorder of glycosylation type Ia
CDG1a see congenital disorder of glycosylation type Ia
CDGS1a see congenital disorder of glycosylation type Ia
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
celiac disease
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
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 Disorders
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 see hereditary cerebral amyloid angiopathy
cerebral amyloid angiopathy, familial see hereditary cerebral amyloid angiopathy
cerebral amyloid angiopathy, genetic see hereditary cerebral amyloid angiopathy
Cerebral Arterial Diseases
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
cerebral cavernous malformation
Cerebral gigantism see Sotos syndrome
Cerebral Hemorrhage
cerebral sclerosis see tuberous sclerosis complex
cerebral sclerosis, diffuse, metachromatic form see metachromatic leukodystrophy
cerebro-frontofacial syndrome, type 3 see Baraitser-Winter syndrome
cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
cerebroatrophic hyperammonemia see Rett syndrome
cerebrohepatorenal syndrome see Zellweger spectrum
Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
cerebrooculorenal syndrome see Lowe syndrome
Cerebroside Lipidosis Syndrome see Gaucher disease
cerebroside sulphatase deficiency disease see metachromatic leukodystrophy
cerebrotendinous xanthomatosis
cerebrovascular ferrocalcinosis see familial idiopathic basal ganglia calcification
cervical 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
CGD see chronic granulomatous disease
CH see congenital hypothyroidism
CHAC see chorea-acanthocytosis
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
CHARGE syndrome
Charlevoix disease see Andermann syndrome
Charlevoix-Saguenay spastic ataxia see autosomal recessive spastic ataxia of Charlevoix-Saguenay
Chediak-Higashi syndrome
Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
chemodectoma see nonsyndromic paraganglioma
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 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 primary osteoporosis see juvenile primary osteoporosis
CHMP2B-related frontotemporal dementia
CHMRQ1 see VLDLR-associated cerebellar hypoplasia
Cholestasis, Intrahepatic
cholestasis with peripheral pulmonary stenosis see Alagille syndrome
Cholesterol
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
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
chondrodystrophy, hydropic and prenatally lethal type see Greenberg dysplasia
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
chondroectodermal dysplasia see Ellis-van Creveld syndrome
chondroectodermal dysplasia-like syndrome see asphyxiating thoracic dystrophy
chondroplasia angiomatosis see Maffucci syndrome
chordoma
chorea-acanthocytosis
choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
chorioretinal anomalies with ACC see Aicardi syndrome
choroidal sclerosis see choroideremia
choroideremia
Chotzen syndrome see Saethre-Chotzen syndrome
Christ-Siemens-Touraine Syndrome see hypohidrotic ectodermal dysplasia
Christianson syndrome
chromosome 1p36 deletion syndrome see 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome see 1q21.1 microdeletion
chromosome 1q21.1 deletion syndrome, 200-KB see thrombocytopenia-absent radius syndrome
chromosome 3-linked frontotemporal dementia see CHMP2B-related frontotemporal dementia
chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome
chromosome 4p monosomy see Wolf-Hirschhorn syndrome
chromosome 5p- Syndrome see cri-du-chat 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 22q11.2 duplication syndrome see 22q11.2 duplication
chromosome 22q11.2 microduplication syndrome see 22q11.2 duplication
chronic congenital agenerative anemia see Diamond-Blackfan anemia
chronic congenital idiopathic hyperphosphatasemia see juvenile Paget disease
chronic eosinophilic leukemia see PDGFRA-associated chronic eosinophilic 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 Motor and Vocal Tic Disorder see Tourette syndrome
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
chylomicron retention disease
CIIP see intestinal pseudo-obstruction
Ciliary Motility Disorders see primary ciliary dyskinesia
CINCA see neonatal onset multisystem inflammatory disease
CIP see congenital insensitivity to pain
CIPA see congenital insensitivity to pain with anhidrosis
Cirrhosis
CISS see cold-induced sweating syndrome
CIT see citrullinemia
citrullinemia
Classic Galactosemia see galactosemia
classic juvenile NCL see juvenile Batten disease
classic Refsum disease see Refsum disease
classical lissencephaly syndrome see Miller-Dieker syndrome
Classical Niemann-Pick Disease see Niemann-Pick disease
cleft lip and/or palate with mucous cysts of lower lip see van der Woude syndrome
Cleft Lip and Palate
cleft spine see spina bifida
cleidocranial dysplasia
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
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
CMRD see chylomicron retention disease
CMS see congenital myasthenic syndrome
CMT see Charcot-Marie-Tooth disease
CNM see X-linked myotubular myopathy
CNTF receptor-related disorders see cold-induced sweating syndrome
co-contractive retraction syndrome see isolated Duane retraction syndrome
Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
Cockayne syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cohen syndrome
COL4A1-related brain small-vessel disease
cold hypersensitivity see familial cold autoinflammatory syndrome
cold-induced sweating syndrome
Colitis, Granulomatous see Crohn disease
colitis gravis see ulcerative colitis
collodion baby see lamellar ichthyosis; nonbullous congenital ichthyosiform erythroderma
coloboma
coloboma of optic nerve with renal disease see renal coloboma syndrome
coloboma-ureteral-renal syndrome see renal coloboma syndrome
Colon cancer, familial see familial adenomatous polyposis
Colonic Diseases
Colonic Polyps
Color Blindness see color vision deficiency; optic atrophy type 1
color vision deficiency
Colorectal Cancer
Colorectal Neoplasms, Hereditary Nonpolyposis see Lynch syndrome
combined malonic and methylmalonic aciduria
combined partial deficiency of 17-hydroxylase and 21-hydroxylase see cytochrome P450 oxidoreductase deficiency
combined pituitary hormone deficiency
common variable immune deficiency
Common Variable Immunodeficiency see common variable immune deficiency
complement factor I deficiency
complete HPRT deficiency see Lesch-Nyhan syndrome
complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
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 retinal dystrophy see retinitis pigmentosa
congenital absence of brain see anencephaly
congenital absence of the uterus and vagina (CAUV) see Mayer-Rokitansky-Küster-Hauser syndrome
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency see cytochrome P450 oxidoreductase deficiency
congenital afibrinogenemia
Congenital agammaglobulinemia see X-linked agammaglobulinemia
congenital agranulocytosis see severe congenital neutropenia
congenital alveolar capillary dysplasia see alveolar capillary dysplasia with misalignment of pulmonary veins
congenital amaurosis of retinal origin see Leber congenital amaurosis
congenital aniridia see aniridia
Congenital Antithrombin III Deficiency see hereditary antithrombin deficiency
Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
congenital bilateral absence of the vas deferens
congenital cataracts, facial dysmorphism, and neuropathy
congenital central hypoventilation syndrome
congenital contractural arachnodactyly
congenital deafness with keratopachydermia and constrictions of fingers and toes see Vohwinkel syndrome
congenital deafness with labyrinthine aplasia, microtia, and microdontia
congenital diaphragmatic hernia
congenital disorder of glycosylation type Ia
congenital dyserythropoietic anemia
congenital dysplastic angiopathy see Klippel-Trenaunay syndrome
Congenital enamel hypoplasia see amelogenesis imperfecta
congenital erythrocytosis see familial erythrocytosis
congenital erythroid hypoplastic anemia see Diamond-Blackfan anemia
congenital facial diplegia see Moebius syndrome
congenital familial lymphedema see Milroy disease
congenital fiber-type disproportion
congenital fibrosis of the extraocular muscles
Congenital folate malabsorption see hereditary folate malabsorption
congenital generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy
Congenital Heart Defects
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
congenital hepatic fibrosis
congenital hereditary hematuria see Alport syndrome
congenital hyperinsulinism see familial hyperinsulinism
congenital hypoplastic anemia of Blackfan and Diamond see Diamond-Blackfan anemia
congenital hypothyroidism
congenital icthyosis mental retardation spasticity syndrome see Sjögren-Larsson syndrome
congenital insensitivity to pain see congenital insensitivity to pain; hereditary sensory and autonomic neuropathy type V
congenital insensitivity to pain with anhidrosis
congenital intestinal aganglionosis see Hirschsprung disease
Congenital Lipomatosis of Pancreas see Shwachman-Diamond syndrome
Congenital lysinuria see lysinuric protein intolerance
congenital megacolon see Hirschsprung disease
Congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome
congenital methemoglobinemia see methemoglobinemia, beta-globin type
congenital motor nystagmus see X-linked infantile nystagmus
congenital myasthenic syndrome
congenital myopathy with caps see cap myopathy
congenital myopathy with excess of thin filaments see actin-accumulation myopathy
Congenital myotonia see myotonia congenita
congenital nephrogenic diabetes insipidus see nephrogenic diabetes insipidus
congenital neutropenia see severe congenital neutropenia
congenital nonbullous ichthyosiform erythroderma see nonbullous congenital ichthyosiform erythroderma
congenital ophthalmoplegia and facial paresis see Moebius syndrome
congenital osteopetrosis see osteopetrosis
congenital pachyonychia see pachyonychia congenita
congenital plasminogen deficiency
Congenital poikiloderma see Rothmund-Thomson Syndrome
congenital pontocerebellar hypoplasia see pontocerebellar hypoplasia
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 retinal blindness see Leber congenital amaurosis
congenital scoliosis with unilateral unsegmented bar see spondylocarpotarsal synostosis syndrome
congenital sensory neuropathy see hereditary sensory and autonomic neuropathy type II
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 sucrase-isomaltase deficiency
congenital synspondylism see spondylocarpotarsal synostosis syndrome
congenital telangiectatic erythema see Bloom syndrome
congenital X-linked retinoschisis see X-linked juvenile retinoschisis
Connective Tissue Disorders
conorenal dysplasia see Mainzer-Saldino syndrome
conorenal syndrome see Mainzer-Saldino syndrome
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Conradi-Hünermann-Happle syndrome see X-linked chondrodysplasia punctata 2
Conradi-Hünermann Syndrome see X-linked chondrodysplasia punctata 2
constitutional liver dysfunction see Gilbert syndrome
1q21.1 contiguous gene deletion see 1q21.1 microdeletion
contractural arachnodactyly, congenital see congenital contractural arachnodactyly
Copper storage disease see Wilson disease
Copper transport disease see Menkes syndrome
Cori disease see glycogen storage disease type III
Corneal Disorders
Corneal Dystrophies, Hereditary
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
Coronary Artery Disease
CORS see Joubert syndrome
Costello syndrome
Cowden syndrome
COX deficiency see cytochrome c oxidase deficiency
CPEO see progressive external ophthalmoplegia
CPHD see combined pituitary hormone deficiency
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
Craniofacial Abnormalities
craniofacial-deafness-hand syndrome
Craniofacial dysarthrosis see Crouzon syndrome
Craniofacial Dysostosis see Crouzon syndrome; Crouzonodermoskeletal syndrome; Miller syndrome; Nager syndrome; Treacher Collins syndrome
craniofacial microsomia
Craniofacial-skeletal-dermatologic dysplasia see Pfeiffer syndrome
craniometaphyseal dysplasia
cranioorodigital syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
Craniosynostosis-radial aplasia syndrome see Baller-Gerold syndrome
Craniosynostosis with radial defects see Baller-Gerold syndrome
cranium bifidum see enlarged parietal foramina
CRASH syndrome see L1 syndrome
CRB see Leber congenital amaurosis
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-Goutieres syndrome
Cree leukoencephalopathy see leukoencephalopathy with vanishing white matter
Cretinism see congenital hypothyroidism
Creutzfeldt-Jakob Disease see prion disease
cri-du-chat syndrome
Crigler-Najjar syndrome
Crisponi syndrome see cold-induced sweating syndrome
Crohn disease
Crohn's Disease see Crohn disease
Cross-McKusick syndrome see Troyer syndrome
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
cryptogenic fibrosing alveolitis see idiopathic pulmonary fibrosis
CS see Cockayne syndrome; Cowden syndrome
CSCD see congenital stromal corneal dystrophy
CSID see congenital sucrase-isomaltase deficiency
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
Cushing's Syndrome see 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
CVS see cyclic vomiting syndrome
cyclic neutropenia
cyclic vomiting syndrome
CYP21 deficiency see 21-hydroxylase deficiency
cystathionine beta synthase deficiency see homocystinuria
cystic fibrosis
cystine storage disease see cystinosis
cystinosis
cystinuria
cytochrome c oxidase deficiency
cytochrome P450 oxidoreductase deficiency
Czech dysplasia


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