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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
cartilage-hair hypoplasia
Cat cry syndrome
see
cri-du-chat syndrome
Cataract
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
CCHS
see
congenital central hypoventilation syndrome
CCO
see
central core disease
CDLS
see
Cornelia de Lange syndrome
CDS
see
Chanarin-Dorfman 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
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
CESD
see
cholesteryl ester storage disease
CF
see
cystic fibrosis
CFC syndrome
see
cardiofaciocutaneous syndrome
CH
see
congenital hypothyroidism
CHAC
see
chorea-acanthocytosis
Chanarin-Dorfman syndrome
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
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
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
chromosome 4p deletion syndrome
see
Wolf-Hirschhorn syndrome
chromosome 4p monosomy
see
Wolf-Hirschhorn syndrome
Chromosome 5p- Syndrome
see
cri-du-chat syndrome
chromosome 17p deletion syndrome
see
Smith-Magenis syndrome
chronic infantile neurologic, cutaneous, and articular syndrome
see
neonatal onset multisystem inflammatory disease
Chronic Motor and Vocal Tic Disorder
see
Tourette syndrome
chronic neurologic, cutaneous, and articular syndrome
see
neonatal onset multisystem inflammatory disease
CHS
see
Chediak-Higashi syndrome
chylomicron retention disease
CINCA
see
neonatal onset multisystem inflammatory disease
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
CMRD
see
chylomicron retention disease
CMT
see
Charcot-Marie-Tooth disease
CNM
see
X-linked myotubular myopathy
COCA 1
see
Lynch syndrome
Cockayne-Pelizaeus-Merzbacher Disease
see
Pelizaeus-Merzbacher disease
Cockayne syndrome
Coffin-Lowry syndrome
Cohen syndrome
cold hypersensitivity
see
familial cold autoinflammatory 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 agammaglobulinemia
see
X-linked agammaglobulinemia
Congenital betalipoprotein deficiency syndrome
see
abetalipoproteinemia
congenital bilateral absence of the vas deferens
congenital central hypoventilation syndrome
congenital contractural arachnodactyly
Congenital enamel hypoplasia
see
amelogenesis imperfecta
Congenital familial lymphedema
see
Milroy disease
congenital generalized lipodystrophy
see
Berardinelli-Seip congenital lipodystrophy
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 mesodermal dysmorphodystrophy
see
Weill-Marchesani syndrome
congenital methemoglobinemia
see
methemoglobinemia, beta-globin type
Congenital myotonia
see
myotonia congenita
Congenital osteosclerosis
see
achondroplasia
Congenital pachyonychia
see
pachyonychia congenita
Congenital poikiloderma
see
Rothmund-Thomson Syndrome
congenital progressive oculo-acoustico-cerebral degeneration
see
Norrie disease
Congenital sideroblastic anaemia
see
X-linked sideroblastic anemia
congenital sucrase-isomaltase deficiency
congenital X-linked retinoschisis
see
X-linked juvenile retinoschisis
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
CSID
see
congenital sucrase-isomaltase deficiency
CSNU
see
cystinuria
CST syndrome
see
hypohidrotic ectodermal dysplasia
CTX
see
cerebrotendinous xanthomatosis
CUD
see
primary carnitine deficiency
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
cystic fibrosis
Cystine storage disease
see
cystinosis
Cystinoses
see
cystinosis
cystinosis
cystinuria
Czech dysplasia
Published: January 23, 2009