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List of diseases starting by C
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C2 deficiency
Cacchi-Ricci disease
CACD
CACH syndrome
CADASIL
Cafe au lait spots syndrome
Caffey disease
Cahmr syndrome
Calcinosis, tumoral
Calcinosis universalis
Calderon gonzalez cantu syndrome
California encephalitis
Calpainopathy
Calvarial doughnut lesions - bone fragility
Camera lituania cohen syndrome
CAMFAK syndrome
CAMOS syndrome
Campodactyly - cleft palate- clubfoot
Campomelia Cumming type
Campomelic dwarfism
Campomelic dysplasia
Camptobrachydactyly
Camptocormia
Camptocormism
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia
Camptodactyly - joint contractures - facial skeletal defects
Camptodactyly overgrowth unusual facies
Camptodactyly syndrome guadalajara type 1
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly - tall stature - scoliosis - hearing loss
Camptodactyly - taurinuria
Camurati engelmann disease
Canale-Smith syndrome
Canavan disease
Cancer-associated retinopathy
Cancrum oris
Candidiasis, chronic mucocutaneous
CANOMAD syndrome
Cantalamessa baldini ambrosi syndrome
Cantrell pentalogy
Cantu sanchez corona hernandes syndrome
Capillary haemangioma, familial form
Capillary leak syndrome
CAPOS syndrome
CAP syndrome
Caratolo cilio pessagno syndrome
Carbamoylphosphate synthetase deficiency
Carbohydrate deficient glycoprotein syndrome,
Carbonic anhydrase II deficiency
Carcinoid tumour
Carcinoid tumour of the thymus
Carcinoma of the gallbladder
Cardiac conduction defect, familial
Cardiac conduction disease, dilated cardiomyopathy and brachydactyly
Cardiac diverticulum
Cardiac tumours of the child
Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency
Cardiofaciocutaneous syndrome
Cardiogenital syndrome
Cardiomyopathic lentiginosis
Cardiomyopathy - cataract - hip spine disease
Cardiomyopathy - deafness, maternally inherited
Cardiomyopathy dilated with conduction defect
Cardiomyopathy, familial dilated
Cardiomyopathy - hearing loss, type trna lys gene mutation
Cardiomyopathy, hypertrophic obstructive
Cardiomyopathy, hypertrophic, primary or idiopathic
Cardiomyopathy - hypotonia, due to cytochrome c oxidase deficiency
Cardiomyopathy - hypotonia - lactic acidosis
Cardiomyopathy, idiopathic dilated, mitochondrial
Cardiomyopathy - renal anomalies
Cardiomyopathy with myopathy due to COX deficency
Cardioskeletal myopathy-neutropenia
Carey fineman ziter syndrome
Carnevale canun mendoza syndrome
Carnevale-Hernandez-del Castillo syndrome
Carnevale-Krajewska-Fischetto syndrome
Carney complex
Carney dyad
Carney-Stratakis syndrome
Carney syndrome
Carnitine-acylcarnitine translocase deficiency
Carnitine brain transporter deficiency
Carnitine palmitoyl transferase 1 deficiency
Carnitine palmitoyl transferase 2 deficiency
Carnitine uptake deficiency
Carnosinase deficiency
Carnosinemia
Caroli's disease
Carpal deformity migrognathia microstomia
Carpal tunnel syndrome
Carpenter syndrome
Carpo tarsal osteochondromatosis
Carpo tarsal osteolysis recessive
Carrington's disease
Carrion disease
CAR syndrome
Cartilage hair hypoplasia
Cartilage hair hypoplasia like skeletal dysplasia without hypotrichosis
Carvajal syndrome
Casamassima-Morton-Nance syndrome
Cassia Stocco dos Santos syndrome
Castleman disease
Castro gago pombo novo syndrome
Catalase deficiency
Cataract - aberrant oral frenula - growth delay
Cataract - alopecia - sclerodactyly
Cataract- ataxia - deafness
Cataract cardiomyopathy
Cataract, congenital - ichthyosis
Cataract, congenital, non-syndromic
Cataract congenital with microphthalmia
Cataract deafness hypogonadism
Cataract-glaucoma
Cataract - hypertrichosis - intellectual deficit
Cataract - intellectual deficit - anal atresia - urinary defects
Cataract mental retardation hypogonadism
Cataract - microcephaly - failure to thrive - kyphoscoliosis
Cataract-microcornea syndrome
Cataract - microphthalmia - septal defect
Cataract - nephropathy - encephalopathy
CATCH 22
Catel-Manzke syndrome
Cat-eye syndrome
Cat-scratch disease
CATSHL syndrome
Caudal appendage deafness
Caudal duplication
Caudal dysgenesis familial type
Caudal regression sequence
CAVC
Cayler syndrome
CCA syndrome (Congenital contractural arachnodactyly)
CCFDN
CCGE syndrome
CD
CDA
CDAGS syndrome
CDG syndrome (generic term)
CDG syndrome, type 1m
CDG syndrome, type 2h
CDG syndrome type Ia
CDG syndrome type Ib
CDG syndrome type Ic
CDG syndrome type Id
CDG syndrome type Ie
CDG syndrome type If
CDG syndrome type Ig
CDG syndrome type Ih
CDG syndrome type Ii
CDG syndrome type IIa
CDG syndrome type IIb
CDG syndrome type IId
CDG syndrome type IIe
CDG syndrome, type IIh
CDG syndrome type Ij
CDG syndrome type Ik
CDG syndrome type IL
CDG syndrome, type Im
Cecato de Lima Pinheiro syndrome
CEDNIK syndrome
Celiac disease
Celiac disease epilepsy occipital calcifications
Celiac sprue
Cenani lenz syndactylism
Central areolar pigment epithelial dystrophy (CAPED)
Central core disease
Central neurocytoma
Centronuclear myopathy
Centrotemporal epilepsy
Cephalopolysyndactyly
Ceramidase deficiency
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Cerebellar ataxia, autosomal dominant
Cerebellar ataxia, autosomal recessive
Cerebellar ataxia, autosomal recessive - blindness - deafness
Cerebellar ataxia, autosomal recessive - saccadic intrusion
Cerebellar ataxia, Cayman type
Cerebellar ataxia, early onset, with retained tendon reflex (EOCARR)
Cerebellar ataxia - ectodermal dysplasia
Cerebellar ataxia - hypogonadism
Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities
Cerebellar ataxia type 1, autosomal recessive
Cerebellar ataxia, X-linked
Cerebellar atrophy with progressive microcephaly
Cerebellar hypoplasia
Cerebellar hypoplasia tapetoretinal degeneration
Cerebellar plus syndrome
Cerebellar syndrome - pigmentary maculopathy
Cerebellar vermis agenesis
Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
Cerebelloparenchymal autosomal recessive disorder 3
Cerebelloparenchymal disorder IV (CPD IV)
Cerebellotrigeminal dermal dysplasia
Cerebellum agenesis - hydrocephaly
Cerebral arteriovenous fistula
Cerebral arteriovenous shunt
Cerebral cavernous malformation
Cerebral cavernous malformations
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
Cerebral gigantism
Cerebral gigantism - jaw cysts
Cerebral gigantism nevo type
Cerebral hemorrhage with amyloidosis, hereditary
Cerebral vascular accident, familial
Cerebro-costo-mandibular syndrome
Cerebro facio articular syndrome
Cerebro facio thoracic dysplasia
Cerebrohepatorenal syndrome
Cerebro oculo dento auriculo skeletal syndrome
Cerebrooculofacioskeletal syndrome
Cerebro-oculo-genital syndrome
Cerebro-oculo-nasal syndrome
Cerebro oculo skeleto renal syndrome
Cerebro reno digital syndrome
Cerebroretinal vasculopathy
Ceroid lipofuscinosis, neuronal
Cervical hypertrichosis - peripheral neuropathy
Cervical vertebral fusion, congenital
Cervicooculoacoustic syndrome
CFC syndrome
Cfc syndrome
Chagas disease
CHANDS
CHAND syndrome
Chang-Davidson-Carlson syndrome
Channelopathy-associated insensitivity to pain
Chaotic atrial tachycardia
Charcot disease
Charcot-Marie-Tooth, axonal , with acrodystrophy
Charcot-Marie-Tooth, demyelinating, autosomal recessive
Charcot-Marie-Tooth disease, autosomal recessive, Ouvrier type
Charcot-Marie-Tooth disease, axonal, autosomal dominant
Charcot-Marie-Tooth disease - deafness - mental retardation
Charcot-Marie-Tooth disease, demyelinating, autosomal dominant
Charcot-Marie-Tooth disease, dominant-intermediate type
Charcot-Marie-Tooth disease (generic term)
Charcot-Marie-Tooth disease - nephropathy
Charcot-Marie-Tooth disease - pyramidal features
Charcot-Marie-Tooth disease, type 1
Charcot-Marie-Tooth disease, type 2, autosomal dominant
Charcot-Marie-Tooth disease, type 2, autosomal recessive
Charcot-Marie-Tooth disease, type 4
Charcot-Marie-Tooth disease, X-linked
Charcot-Marie-Tooth hereditary neuropathy
Charcot-Marie-Tooth type 6
Char douglas dungan syndrome
CHARGE association
Charge like syndrome
CHARGE syndrome
Charlevoix disease
Charlie m syndrome
Char syndrome
Chediak-Higashi like syndrome
Chediak-Higashi syndrome
Cheilitis glandularis
Chemke oliver mallek syndrome
Cherry-red-spot, myoclonus syndrome
Cherubism
Cherubism gingival fibromatosis mental retardation
CHHS
Childhood ataxia with diffuse central nervous system hypomyelination
CHILD syndrome
Chitayat haj chahine syndrome
Chitayat-Meunier-Hodgkinson syndrome
Chitayat moore del bigio syndrome
Chitty hall baraitser syndrome
Chitty hall webb syndrome
Chloride diarrhea, congenital
Chloroma
Choanal atresia - deafness - cardiac defects - dysmorphism
Cholangiocarcinoma
Choledochal cyst hand malformation
Cholelithiasis with ABCB4 gene mutation
Cholemia, familial
Cholera
Cholestasis - lymphoedema, syndrome
Cholestasis pigmentary retinopathy cleft palate
Cholestasis, progressive familial intrahepatic
Cholestatic hepatic amyloidosis
Cholestatic jaundice - renal tubular insufficiency
Cholesterol ester storage disease
Cholesterol-ester transfer protein (CEPT) deficiency
Cholesteryl ester storage disease
Chondrocalcinosis, familial articular
Chondrodysplasia, Blomstrand type
Chondrodysplasia - disorder of sex development
Chondrodysplasia, Grebe type
Chondrodysplasia lethal recessive
Chondrodysplasia - pseudohermaphrodism
Chondrodysplasia punctata lethal neonatal
Chondrodysplasia punctata, non rhizomelic type
Chondrodysplasia punctata, rhizomelic type
Chondrodysplasia situs inversus imperforate anus polydactyly
Chondrodystrophia calcificans congenita
Chondroectodermal dysplasia
Chondromalacia patellae
Chondrosarcoma
Chordoma
Chorea familial benign
Choreoacanthocytosis
Choreoathetosis-spasticity, episodic
Chorioretinal atrophy, progressive bifocal
Chorioretinopathy, Birdshot type
Chorioretinopathy - microcephaly, autosomal dominant
Chorioretinopathy - microcephaly, autosomal recessive
Choristoma
Choroidal atrophy alopecia
Choroidal dystrophy, central areolar
Choroidal melanoma
Choroidal sclerosis, cenrtal areolar
Choroideremia
Choroideremia deafness obesity
Choroideremia hypopituitarism
Choroido cerebral calcification syndrome infantile form
CHP
Christian-Rosenberg syndrome
Christianson-Fourie syndrome
Christianson syndrome
Christian syndrome
Christmas tree syndrome
Christ-Siemens-Touraine syndrome
Chromomycosis
Chromosome Y deletion
Chronic ataxic neuropathy - ophtalmoplegia - IgM paraprotein - cold agglutinins - disialosyl antibodies
Chronic berylliosis
Chronic beryllium disease
Chronic beryllium lung disease
Chronic demyelinating neuropathy with IgM monoclonal gammapathy
Chronic eosinophilic pneumonia
Chronic fatigue immune dysfunction syndrome
Chronic fatigue syndrome
Chronic hiccup
Chronic, infantile, neurological, cutaneous, articular syndrome
Chronic inflammatory demyelinating polyneuropathy
Chronic myeloproliferative disease, unclassifiable
Chronic neutrophilic leukemia
Chronic pain requiring intraspinal analgesia
Chronic pneumonitis of infancy
Chronic progressive external ophthalmoplegia (CPEO)
Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anaemia - neutrophilic dermatosis
Chronic recurrent multifocal osteomyelitis, juvenile
Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies
Chronic spinal muscular atrophy
Chronic urticaria with macroglobulinemia
Chudley rozdilsky syndrome
Churg-Strauss syndrome
Chylomicron retention disease
Chylous ascites
Cicatricial pemphigoid
CIDP
Ciliary dysentery
Ciliary dyskinesia, acquired
Cilliers-Beighton syndrome
CINCA syndrome
Circumscribed cutaneous aplasia of the vertex
Cirrhosis associated cardiac dysfunction
Cirrhotic cardiomyopathy
Citrullinemia
Clark nevus
Clarkson disease
Classical Hodgkin disease
Classical homocystinuria
Claude-Bernard-Horner syndrome, congenital
Clavicle, pseudoarthrosis of, congenital
ClaytonSmith-Donnai syndrome
Clear cell sarcoma of the tendons and aponeuroses
Clear cell sarcoma, soft tissue
Cleft hand - absent tibia
Clefting - ectropion - conical teeth
Cleft limb heart malformation syndrome
Cleft lip and/or palate with mucous cysts of lower lip
Cleft lip and palate malrotation cardiopathy
Cleft lip palate abnormal thumbs microcephaly
Cleft lip palate deafness sacral lipoma
Cleft lip palate - ectrodactyly
Cleft lip-palate - facial, eye, heart and intestinal anomalies
Cleft lip palate - mental retardation - corneal opacities
Cleft lip palate oligodontia syndactyly pili torti
Cleft lip retinopathy
Cleft lip with or without cleft palate
Cleft mitral valve
Cleft palate
Cleft palate - cardiac defect - genital anomalies - ectrodactyly
Cleft palate - coloboma - deafness
Cleft palate large ears small head
Cleft palate lateral synechia syndrome
Cleft palate short stature vertebral anomalies
Cleft palate stapes fixation oligodontia
Cleft sternum
Cleft upper lip median cutaneous polyps
Cleidocranial dysostosis
Cleidocranial dysplasia
Cleidocranial dysplasia - micrognathia - absent thumbs
Cleido rhizomelic syndrome
C-like syndrome
Clouston syndrome
Cloverleaf skull syndrome
CLPED1
Cluster headache
CMC
CMD
CMPD,U
CMT
CMT1
CMT2
CMT4
CMT6
CMTX
CMV antenatal infection
COACH syndrome
Coarctation of aorta autosomal dominant
Coarctation of the abdominal aorta
Coarse face hypotonia constipation
Coats disease
Cobalamin malabsorption, selective, with proteinuria
Cobb syndrome
Cocaine embryofetopathy
Cocaine poisoning
Cochleosaccular degeneration - cataract
Cockayne syndrome
Codas syndrome
Coeliac disease
Coenzyme Q 10 (CoQ10), deficiency
Coenzyme Q cytochrome c reductase deficiency
Coffin-Lowry syndrome
Coffin-Siris syndrome
Coffin syndrome
COFS syndrome
Cogan syndrome
Cohen hayden syndrome
Cohen lockood wyborney syndrome
Cohen syndrome
COIF syndrome
Colchicine poisoning
Cold agglutinin disease
Cole carpenter syndrome
Colitis, undetermined
Collagenoma, familial, cutaneous
Collagenous colitis
Collagen type III glomerulopathy
Collins pope syndrome
Collins sakati syndrome
Coloboma chorioretinal cerebellar vermis aplasia
Coloboma, ectasic
Coloboma - hair abnormality
Coloboma, ocular
Coloboma of macula - brachydactyly type B
Coloboma of optic nerve with renal disease
Colobomatous microphthalmia heart disease hearing loss
Coloboma uveal with cleft lip palate and mental retardation
Colon cancer, familial nonpolyposis
Colonic atresia
Colorado tick encephalitis
Colorado tick fever
Colorectal adenomatous polyposis
Colourblindness, tritan
Colver steer godman syndrome
Combined pituitary hormone deficiency, non acquired, non syndromic
Common aortico-pulmonary trunk
Common arterial trunk
Common atrioventricular canal
Common mesentery
Complement component 2 deficiency
Complete atrioventricular septal defect
Complex 1, mitochondrial respiratory chain, deficiency of
Complex 2, mitochondrial respiratory chain, deficiency of
Complex 3, mitochondrial respiratory chain, deficiency of
Complex 5, mitochondrial respiratory chain, deficiency of
Complex regional pain syndrome
Condensing osteitis of the medial clavicle
Conductive deafness malformed external ear
Conductive deafness micrognathia
Cone dysfunction syndrome with myopia, X-linked
Cone dystrophies
Cone rod dystrophy
Cone rod dystrophy amelogenesis imperfecta
Congenital absence of lacrimal puncta and salivary glands
congenital aleukocytosis
Congenital alopecia, X linked
Congenital analgesia
Congenital anosmia, isolated
Congenital benign spinal muscular atrophy dominant
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital bronchobiliary fistula
Congenital cataracts - facial dysmorphism - neuropathy
Congenital central alveolar hypoventilation
Congenital cystic eye multiple ocular and intracranial anomalies
Congenital Disorders of Glycosylation
Congenital ectropion uveae
Congenital enteropathy
Congenital esophageal diverticulum
Congenital facial diplegia
Congenital fiber type disproportion
Congenital heart block
Congenital heart disease - ptosis - hypodontia - craniosynostosis
Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects
Congenital ichthyosis microcephalus quadriplegia
Congenital indifference to pain
Congenital lobar emphysema
Congenital megalo-ureter
Congenital mesoblastic nephroma
Congenital microvillous atrophy
Congenital mitral malformation
Congenital myopathy (generic term)
Congenital nephrotic syndrome, finnish type
Congenital palsy of trochlear nerve, familial form
Congenital primary aphakia
Congenital retinal telangiectasia
Congenital rubella syndrome
Congenital short bowel
Congenital short femur
Congenital stenosis of cervical medullary canal
Congenital tritanopia
Congenital unilateral pulmonary hypoplasia
Conn adenoma
Connective tissue dysplasia spellacy type
Conn's adenoma
Conn's syndrome
Conotruncal anomalies face syndrome
Conotruncal heart malformations
Conradi-Hünermann-Happle syndrome
Constrictive bronchiolitis
Continuous muscle fiber activity hereditary
Continuous spike-wave during slow sleep syndrome
Contractures ectodermal dysplasia cleft lip palate
Cooks syndrome
Cooley anaemia
Cooper-Jabs syndrome
Copper deficiency familial benign
Copper transport disease
Cormier rustin munnich syndrome de
Corneal anesthesia deafness mental retardation
Corneal-cerebellar syndrome
Corneal dermoid, X-linked
Corneal dystrophy
Corneal dystrophy epithelial - short stature
Corneal dystrophy ichthyosis microcephaly mental retardation
Corneal dystrophy - perceptive deafness
Corneal dystrophy - pigmentary anomaly - malabsorption
Corneal lattice dystrophy (CLD)
Cornea plana, congenital
Cornelia de Lange syndrome
Corneodermatoosseous syndrome
Coronal synostosis syndactyly jejunal atresia
Coronaro-cardiac fistula
Coronary arterial fistulas
Coronary arterial malformations
Coronary artery, abnormal origin or aberrant course of
Coronary artery aneurysm, congenital
Coronary artery congenital malformation (generic term)
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Coronary sinus, anomaly of, congenital
Corpus callosum agenesis - blepharophimosis - Robin sequence
Corpus callosum, agenesis - cataract - immunodeficiency
Corpus callosum agenesis double urinary collecting system
Corpus callosum agenesis neuronopathy
Corpus callosum agenesis of with chorioretinal abnormality
Corpus callosum agenesis - polysyndactyly
Corpus callosum dysgenesis, X-linked recessive
Cortada koussef matsumoto syndrome
Cortical blindness - mental retardation - polydactyly
Cortical hyperostosis syndactyly
Cortical myoclonus and epilepsy, autosomal dominant
Corticobasal degeneration
Corticosteroid-sensitive aseptic abscesses
Costeff optic atrophy syndrome
Costeff syndrome
Costello syndrome
Costocoracoid ligament congenitally short
Cote adamopoulos pantelakis syndrome
Cote katsantoni syndrome
Cowchock-Wapner-Kurtz syndrome
Cowden syndrome
COX deficiency, French-Canadian type
Coxoauricular syndrome
Coxo-podo-patellar syndrome
CPI
Cramer-Niederdellmann syndrome
Crandall syndrome
Crane heise syndrome
Cranial dural arteriovenous malformations
Cranioacrofacial syndrome
Craniocarpotarsal dystrophy (dysplasia)
Craniocerebellocardiac dysplasia
Craniodiaphyseal dysplasia
Craniodigital syndrome mental retardation
Cranioectodermal dysplasia
Craniofacial and osseous defects mental retardation
Craniofacial and skeletal defects
Craniofacial conodysplasia
Craniofacial-deafness-hand syndrome
Craniofacial dysmorphism - coloboma - corpus callosum agenesis
Craniofacial dysostosis arthrogryposis progeroid appearance
Craniofacial dysostosis, genital, dental, cardiac anomalies
Craniofacial dyssynostosis
Craniofaciocardioskeletal syndrome
Craniofaciocervical osteoglyphic dysplasia
Cranio-facio-digito-genital syndrome
Craniofrontonasal dysplasia
Cranio fronto nasal dysplasia poland anomaly
Craniofrontonasal dysplasia, Teebi type
Craniolenticulosutural dysplasia
Craniometadiaphyseal dysplasia, wormian bone type
Craniometaphyseal dysplasia
Craniomicromelic syndrome
Cranio osteoarthropathy
Craniopharyngioma
Craniorachischisis
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