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Y-Z
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
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 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-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, 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
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
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
17q21.31 microdeletion 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 lissencephaly
see
X-linked lissencephaly
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
COCA 1
see
Lynch syndrome
Cockayne-Pelizaeus-Merzbacher Disease
see
Pelizaeus-Merzbacher disease
Cockayne syndrome
Coffin-Lowry 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 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
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
see
Werner syndrome
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
Cystinoses
see
cystinosis
cystinosis
cystinuria
cytochrome c oxidase deficiency
cytochrome P450 oxidoreductase deficiency
Czech dysplasia
Published: February 11, 2013