Genetic Conditions >

Browse Conditions

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P-Q | R | S | T | U | V | W | X | Y-Z

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
Camurati-Engelmann disease
Canavan disease
Cancer
Cancer Family Syndrome see Lynch syndrome
Cancer of breast see breast cancer
Cancer of the bladder see bladder cancer
Carbamoyl-Phosphate Synthase I Deficiency Disease see carbamoyl phosphate synthetase I deficiency
carbamoyl phosphate synthetase I deficiency
Carbamyl-Phosphate Synthetase I Deficiency Disease see carbamoyl phosphate synthetase I deficiency
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-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome
cardiofaciocutaneous syndrome
cardiomegalia glycogenica diffusa see Pompe disease
Cardiomyopathy
cardiovertebral syndrome see Alagille syndrome
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
Cat cry syndrome see cri-du-chat syndrome
Cataract see Werner syndrome
CATCH22 see 22q11.2 deletion syndrome
Catlin marks see enlarged parietal foramina
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
CCO see central core disease
CDLS see Cornelia de Lange syndrome
CED see Camurati-Engelmann disease
central core disease
Central Nervous System Cavernous Hemangioma see cerebral cavernous malformation
Central Neurofibromatosis see neurofibromatosis type 2
cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
Ceramidase deficiency see Farber lipogranulomatosis
Ceramide trihexosidase deficiency see Fabry disease
Cerebellar Ataxia
Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
cerebral cavernous malformation
Cerebral gigantism see Sotos syndrome
cerebral sclerosis see tuberous sclerosis
cerebral sclerosis, diffuse, metachromatic form see metachromatic leukodystrophy
cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
Cerebroatrophic Hyperammonemia see Rett syndrome
Cerebrooculorenal Syndrome see Lowe syndrome
Cerebroside Lipidosis Syndrome see Gaucher disease
Cerebroside Sulphatase Deficiency Disease see metachromatic leukodystrophy
cerebrotendinous xanthomatosis
CESD see cholesteryl ester storage disease
CF see cystic fibrosis
CFC syndrome see cardiofaciocutaneous syndrome
CH see congenital hypothyroidism
CHAC see chorea-acanthocytosis
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
cherubism
CHILD syndrome see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
childhood ataxia with central nervous system hypomyelination see leukoencephalopathy with vanishing white matter
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
Chondrodystrophia fetalis see achondroplasia
Chondrodystrophy syndrome see achondroplasia
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
chondroectodermal dysplasia-like syndrome see asphyxiating thoracic dystrophy
chorea-acanthocytosis
Choreoacanthocytosis see chorea-acanthocytosis
Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
choroidal sclerosis see choroideremia
choroideremia
Chotzen syndrome see Saethre-Chotzen syndrome
Christ-Siemens-Touraine Syndrome see hypohidrotic ectodermal dysplasia
Chromosomal imbalance syndrome, pair 13, trisomy see trisomy 13
Chromosomal imbalance syndrome, pair 18, trisomy see trisomy 18
Chromosome 5p- Syndrome see cri-du-chat syndrome
chromosome 13 trisomy syndrome see trisomy 13
chromosome 17p deletion syndrome see Smith-Magenis syndrome
Chronic Motor and Vocal Tic Disorder see Tourette syndrome
CHS see Chediak-Higashi syndrome
CIT see citrullinemia
citrullinemia
Classic Galactosemia see galactosemia
classic lissencephaly see X-linked lissencephaly
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
cleidocranial dysplasia see cleidocranial dysplasia; Melnick-Needles syndrome
CLS see Coffin-Lowry syndrome
CMT see Charcot-Marie-Tooth disease
COCA 1 see Lynch syndrome
Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
Cockayne syndrome
Coffin-Lowry syndrome
Cohen syndrome
Colitis, Granulomatous see Crohn disease
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
Color Blindness see color vision deficiency
color vision deficiency
Colorectal Cancer
Colorectal Neoplasms, Hereditary Nonpolyposis see Lynch syndrome
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
compression neuropathy see hereditary neuropathy with liability to pressure palsies
Congenital Adrenal Hyperplasia see 21-hydroxylase deficiency
Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
congenital bilateral absence of the vas deferens
congenital contractural arachnodactyly
Congenital enamel hypoplasia see amelogenesis imperfecta
Congenital familial lymphedema see Milroy disease
Congenital Heart Defects
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
congenital hereditary hematuria see Alport syndrome
congenital hypothyroidism
Congenital Lipomatosis of Pancreas see Shwachman-Diamond syndrome
Congenital lysinuria see lysinuric protein intolerance
congenital methemoglobinemia see methemoglobinemia, beta-globin type
Congenital myotonia see myotonia congenita
Congenital osteosclerosis see achondroplasia
Congenital poikiloderma see Rothmund-Thomson Syndrome
congenital progressive oculo-acoustico-cerebral degeneration see Norrie disease
Congenital sideroblastic anaemia see X-linked sideroblastic anemia
Connective Tissue Disorders
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
contractural arachnodactyly, congenital see congenital contractural arachnodactyly
Copper storage disease see Wilson disease
Copper transport disease see Menkes syndrome
Cornelia de Lange syndrome
Coronary Artery Disease
Costello syndrome
Cowden syndrome
CPT deficiency, hepatic, type I see carnitine palmitoyltransferase I deficiency
CPT I deficiency see carnitine palmitoyltransferase I deficiency
CPT2 see carnitine palmitoyltransferase II deficiency
CPTII see carnitine palmitoyltransferase II deficiency
Craniofacial dysarthrosis see Crouzon syndrome
Craniofacial Dysostosis see Crouzon syndrome; Crouzonodermoskeletal syndrome; Treacher Collins syndrome
Craniofacial-skeletal-dermatologic dysplasia see Pfeiffer syndrome
cranioorodigital syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
Craniosynostoses
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
Creatine deficiency, cerebral see guanidinoacetate methyltransferase deficiency
creatine deficiency syndrome due to GAMT deficiency see guanidinoacetate methyltransferase deficiency
Cree leukoencephalopathy see leukoencephalopathy with vanishing white matter
Cretinism see congenital hypothyroidism
Creutzfeldt-Jakob Disease see prion disease
cri-du-chat 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
CS see Cockayne syndrome; Cowden syndrome
CSNU see cystinuria
CST syndrome see hypohidrotic ectodermal dysplasia
CTX see cerebrotendinous xanthomatosis
CUD see primary carnitine deficiency
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
cystic fibrosis
Cystine storage disease see cystinosis
Cystinoses see cystinosis
cystinosis
cystinuria


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources