List rare diseases starting with C

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Ca

Cacchi-Ricci, disease of
CACH, syndrome
CADASIL
Caffey, disease of
Cahmr syndrome
generalized arterial Calcification, infantile form
Calcifications of the plexus choroid, form infantile
symmetrical thalamic Calcifications
Calcinose tumoral
Calcinosis universalis
Calderon gonzalez cantu, syndrome
Calpaïnopathie
Cals, disease of the
Camera lituania cohen, syndrome
Camfak, standard syndrome
Campomélie cumming
Camptobrachydactylie
Camptocormie
Camptocormisme
Camptodactylie advances staturoponderal dysmorphie
Camptodactylie of Goodman
Camptodactylie dysplasy osseous
Camptodactylie ichtyose syndrome
articular Camptodactylie stiffness face skeleton, anomalies
standard Camptodactylie taurinurie
Camptodactylie will guadalajara standard 2
standard Camptodactylie guadalaraja standard 1
Camurati Engelmann, syndrome of
complete Canal atrioventriculaire
partial Canal atrioventriculaire
Carpel tunnel, syndrome of the
Canale-Smith, syndrome of
Canaux of Müller, syndrome of persistence of the
Canavan, disease of
Cancer anaplasic of thyroid the
hereditary Cancer colorectal without polypose
Cancer of the prostate, forms family
Cancer of the stomach of the type Borrmann 4
Cancer of the stomach, family
Cancer of parathyroid the
Cancer of the colon nonpolyposic
Breast cancer and of the ovary
family Breast cancer
medullary Cancer of thyroid the
family pancreatic Cancer
papillary Cancer of thyroid the
family renal papillary Cancer
chronic Candidose family
Candidose cutanéomuqueuse idiopathic
Cantalamessa baldini ambrosi, syndrome of
Cantrell to haul ravitsch, syndrome of
Cantu sanchez corona fragoso, syndrome of
Cantu sanchez corona hernandes, syndrome of
Capos, syndrome
Caratolo cilio pessagno, syndrome of
Carbamyl-phosphate synthétase, deficit in
Carboxylases, multiple deficit in
Carcinome of the gall bladder
intracranial embryonic Carcinome
follicular Carcinome of thyroid the
Carcinome nasopharyngé
family renal Carcinome
Cardiac anomaly hamartomes of the language polysyndactylie
Cardio acro facial syndrome
cranial Cardio standard syndrome pfeiffer
Cardiofacial, syndrome short members
cutaneous Cardiofacio, syndrome
genital Cardio, syndrome
Cardiomélique Spanish standard syndrome
standard Cardiomélique syndrome stratton
auricular Cardiomyopathie with cardiac block
Cardiomyopathie cataract pelvic anomalies spondylo
Cardiomyopathie-diabetes-deafness
Cardiomyopathie dilated with deficit of family conduction
Cardiomyopathie dilated
Cardiomyopathie dilated idiopathic, mitochondriale
hypertrophic Cardiomyopathie family
infantile Cardiomyopathie fatal, been dependant on X
Cardiomyopathie-deafness standard Tarn-lily transferred
standard Cardiopathie anomaly of the members 2
Cardiopathie anomalies of laterality
Cardiopathie blépharophimosis radius anomaly
Cardiopathie congenital short members
Cardiopathie conotroncale family
Cardiopathie round face small size
Cardiopathie ptosis hypodontie craniosténose
Cardiopathie synostose radio cubital backwardness
Carey fineman ziter, syndrome
Carnevale canum mendoza syndrome of
Carnevale hernandez castillo, syndrome of
Carnevale krajewska fischetto, syndrome of
Carney, complex of
Carnitine - acylcarnitine translocase, deficit in
cellular Carnitine, defect of collecting of the
Carnitine palmitoyltransférase I, deficit in
Carnitine palmitoyltransférase II, deficit in
Carnosinase, deficit in
Carnosinémie
Caroli, disease of
Carpe, anomalies micrognathy microstomy
Carrington, syndrome of
Cassia stocco back santos, syndrome of
Castleman, disease of
Castro gago pomto novo, syndrome of
Catalase, deficit in
Cataracte alopécie sclérodactylie
dominant polar former Cataracte
Cataracte ataxia deafness
Cataracte cardiomyopathy
Cataracte cerebellum atrophies myopathy backwardness
congenital Cataracte
congenital Cataracte with microphtalmy
congenital Cataracte, dysmorphie facial and neuropathy
Cataracte oral brakes delay of growth
Cataract-glaucome
Cataract-hyperferritinémie
Cataracte hyperostose frontal luxation of the kneecap
Cataracte hypertrichose backwardness
Cataracte ichtyose syndrome
Cataract-microcornée
Cataract microphtalmy cardiopathy
Cataract nephropathy encephalopathy
Cataract backwardness anal atresy uropathy
Cataract abnormal skeleton
Cataract deafness standard hypogonadism
Cataract hutterite
standard Cataract volkmann
dominant Cataract zonulaire
Catarate backwardness hypogonadism
WRESTLING 22
Catel manzke syndrome of
Cat-eye, syndrome of the
Cavernomes cerebral
Cayler, syndrome of

DC - EC

CCA syndrome
Ccge syndrome
CDG syndrome
Cecato of filed pinheiro, syndrome of
cortical Cécité backwardness polydactyly
Cécité of the rivers
stationary congenital night Cécité
night Cécité skeleton anomalies dysmorphie facial
Cellules with inclusions, disease of the
Cellulite to eosinophilic
Cellulite dissecting of the scalp
thoracic Célosomie
Cenani Lenz syndactylie
short unilateral neuralgic Céphalée with conjunctival injection
Céphalopolysyndactylie
Céphalosquelettique dysplasy
Céramidase, deficit in
Cérébro costo mandibulaire, syndrome
articular Cérébro facio, syndrome
thoracic Cérébro facio, neuronal dysplasy
Cérébro-hépato-renal, syndrome
Cérébro oculo dento auriculo skeletal, syndrome
Cérébro oculo facio skeletal, syndrome
Cérébro oculo genital, syndrome
Cérébro oculo squeletto renal, syndrome
Cérébro réno digital, syndrome
Céroïde-lipofuscinose
Cerebellum aplasia hydrocéphalie
Cerebellum acoustic hypoplasy
Cervico oculo, Céto-acid syndrome
décarboxylase, deficit in
Céto-acidurie backwardness ataxia deafness

CF - CG

CFC, syndrome column of bertin

CH - CJ

Chagas, respiratory disease of
Chain, multiple deficits of the
respiratory Chain malformations, deficit of the
Chanarin, disease of
Chands, syndrome
Chang davidson carlson, syndrome of
Charcot, disease of
Charcot-Marie-Tooth, disease of
Douglas Tank dungan, syndrome of
LOAD, association
Load like syndrome
LOAD, syndrome
Charlevoix, disease of
Charlie m, syndrome
Tank, syndrome of
Chediak-Higashi like, syndrome of
Chediak-Higashi, glandular syndrome of
Cheilite
Chemke oliver mallek, syndrome of
Chérubinisme
Cherubinisme atrophies optical gingival small size
Cherubinisme fibromatose backwardness
Chérubisme
Cheveux null and void anagenes, disease of the
ringed Cheveux, disease of the
Cheveux anomalies photosensitivity backwardness
Cheveux bamboos, syndrome of the
breakable Cheveux backwardness
crisp Cheveux hypotrichose éversées lips separated ears
Cheveux planks ankyloblepharon dysplasy of the nails
Cheveux incoiffables, syndrome of the
woolly Cheveux keratosis palmoplantaire cardiopathy
woolly Cheveux, syndrome of the
Cheville anomalies small size
CHILD, syndrome
Chitayat haj chahine, syndrome of
Chitayat miller hodgkinson, syndrome of
Chitayat moore LED bigio, syndrome of
Chitty hall baraitser, syndrome
Chitty Webb hall, syndrome of
toxic Shock staphylococcic
Cholangite sclerosing
Cholémie familale
Cholera
Cholestase lymphœdeme
pigmentary Cholestase retinopathy palatine slit
Cholestases intrahepatic family progressive
tubular Cholostase impaired renal function
articular Chondrocalcinose
Chondrodysplasie with giant cells
Chondrodysplasie lethal néonatale
Chondrodysplasie lethal platyspondylic
Chondrodysplasie lethal standard Moerman
Chondrodysplasie lethal standard Seller
standard Chondrodysplasie lethal of the Vault
Chondrodysplasie métaphysaire recessive
Chondrodysplasie métaphysaire standard Jansen
Chondrodysplasie métaphysaire standard McKusick
Chondrodysplasie métaphysaire standard Schmid
Chondrodysplasie punctuated dominant related to X
Chondrodysplasie punctuated nonrhizomelic
standard Chondrodysplasie punctuated rhizomelic
Chondrodysplasie pseudohermaphrodism
Chondrodysplasie recessive lethal
Chondrodysplasie situs inversus anus imperforé standard polydactyly
Chondrodysplasie Blomstrand
standard Chondrodysplasie Grebe
Chondrodystrophie calcifying congenital
Chondromalacie
Chondrosarcome
Chorde split dorsal, syndrome of the benign
Chordome
Chorée acanthocytose
Chorée de Huntington
Chorée family
Choreo acanthocytose amyotrophic
Choréoathétose and spasticity, episodical
paroxystic Choreoathetose family
Chorioretine dysplasy microcephalus backwardness
standard Choriorétinopathie Birdshot
Choroide atrophies, alopécie
Choroïdérémie
Choroideremie hypopituitarism
Choroideremie obesity serpigineuse deafness
Choroïdite
geographical Choroïdopathie helicoid peripapillary
Christian of myer franken, syndrome of
Christian johnson angenieta, syndrome of
Christianson fourie, syndrome of
Christ-Siemens-Touraine, syndrome of
Chromomycose
Chromosome 10 out of ring
Chromosome 12 out of ring
Chromosome 14 out of ring
Chromosome 17 out of ring
Chromosome 18 out of ring
Chromosome 19 out of ring
Chromosome 1 out of ring
Chromosome 20 out of ring
Chromosome 21 out of ring
Chromosome 22 out of ring
Chromosome 4 out of ring
Chromosome 6 out of ring
Chromosome 7 out of ring
Chromosome 8 out of ring
Chronique, Infantile, Neurologique, Cutané, Articulaire, syndrome
Chudley lowry hoar, syndrome
Chudley rozdilsky, syndrome
Churg-Strauss, syndrome of

CI - CL

Cilliers beighton, syndrome of
long Lashes backwardness
Scimitar, syndrome of the
CINCA, syndrome
primitive biliary Cirrhosis
Citrullinémie
Clarkson, disease of
Clayton smith gave syndrome of
Cleidocranial dysplasy micrognathism inches absent
Cleido rhizomelic, syndrome
Clouston, syndrome of

CM - CN

MVC, infection anténatale with the
Coach aortic syndrome
Coarctation, atypical form
Coarctation of the abdominal aorta
Coarctation of the aorta with dominant transmission
isthmian Coarctation
Coats, disease of
Cobb, syndrome of
Cocaine, exposure anténatale to the
Cockayne, syndrome of
Cockayne-Touraine, disease of
Coded syndrome
Cœliaque, disease
Coenzyme Q 10 (CoQ10), deficit in
Coenzyme Q cytochrome C réductase, deficit in
Cœur with ventricles intersected
cross Cœur
right Cœur hypoplasy microcephalus
Heart triatrial
Heart univentriculaire
Whetstone sheath-Lowry, syndrome of
Whetstone sheath-Siris, syndrome of
Whetstone sheath syndrome of
Cofs syndrome
Cogan, syndrome of
Cohen hayden syndrome of
Cohen lockwood wyborney syndrome of
Cohen, syndrome of
Colavita kozlowski syndrome of
Colchicine, intoxication by the
Adhesive-Carpenter, syndrome of
collagenous Colite
cutaneous, family Collagénome
Collins pope syndrome of
Collins sakati syndrome of
Colobome with nephropathy
Colobome hair anomaly
Colobome choriorétinien aplasia vermis cérébelleux
Colobome of mackled brachydactylie
Colobome of the iris abnormal lung unilobe endocarde
Colobome of the crystalline lens slit narinaire
Colobome-slit mental labiopalatine-delay
Colobome microphtalmy cardiopathy ocular deafness
Colobome
Colobome eyepiece-anus imperforé
Colobome porencéphalie hydronéphrose
Colver steer godman syndrome of
Communication interauriculaire
Communication interauriculaire with disorder of conduction
Communication interventriculaire
Complement Complex C2 deficit in
1 of the respiratory chain mitochondriale, Complex deficit in
2 of the respiratory chain mitochondriale, Complex deficit in
3 of the respiratory chain mitochondriale, Complex deficit in
4 of the respiratory chain mitochondriale, Complex deficit in
5 of the chain respiratory mitochondriale deficit in
Complex sarcosin déshydrogénase, deficit in
premature chromosomal Condensation with microcephalus and backwardness
gonococcal Conjunctivitis
mixed Connectivity
Connexine 26, anomaly of the
Conradi-Hünermann-Happle, pericardial syndrome of
Constriction delay of growth
Diminish congenital-Arachnodactylie
Contractures congenital lethal, syndrome of (LCCS) the
Contractures ectodermal dysplasy slit labiopalatine
Contractures hyperkératose multiple lethality
Contractures, standard Finnish, syndrome of the
family benign infantile Convulsions
infantile Convulsions and choréoathétose
family benign Convulsions néonatales
Cooks, syndrome of
Cooper wang jabs syndrome of
hereditary Coproporphyrie
Whooping-cough
vocal Cords family dysjonction
Cormier rustin Munich syndrome of
former Horn, disease of the
Cornea planed, congenital
Cornée cerebellum syndrome of
Cornée dystrophy fragile deafness
Cornée syndrome of the
Cornelia de Lange, syndrome of
occipital Corne, syndrome of the
Corneo dermato osseous syndrome
callous Corps sterility bifidite ureterale trigonocephalie
callous Corps sterility blepharophimosis sequence of Robin
callous Corps sterility cataract immunodéficience
callous Corps sterility microcephalus small size
callous Corps sterility neuropathy
callous Corps sterility polysyndactylie
callous Corps recessive sterility related to X
callous Corps disgenesis hypopituitarism
Corsello opitz syndrome
Cortada koussef matsumoto syndrome of
the Cortes lacassy syndrome of
Corticostérone methyl-oxydase (CMO), deficit in
Cortico-surrénalome
Costello syndrome of
Cote adamopoulos pantelakis syndrome of
Cote katsantoni syndrome of
short Cotes craniosynostose polysyndactylie
Côtes short-polydactyly, syndrome of the
short Cotes type beemer syndrome
fine Cotes dysmorphie tubular bones
Cousin walbraum will cegarra syndrome of
Covesdem syndrome of
Cowchock wapner kurtz syndrome of
Cowden, syndrome of
Coxo auricular, syndrome
patellar Coxo podo, syndrome

CR

Cramer niederdellmann, syndrome of
Crandall, syndrome of
Cranium out of clover
Cranium out of clover generalized osseous dysplasy
Cranium out of clover micromélie thoracic dysplasy
Cranium heise, syndrome
Cranio-cérébello-cardiac, dysplasy
Cranio diaphysaire, dysplasy
Cranio digital, anomalies backwardness
ectodermal Cranio dysplasy
Craniofaciale dysostose hyperplasy diaphysaire
Craniofaciale dyssynostose
Craniofaciales osseous skeletal anomalies backwardness
Craniofaciales anomalies
Craniofacial deafness hand syndrome
Cranio facio cardio skeletal syndrome
Cranio facio digito genital syndrome
Cranio fronto nasal dysplasy poland anomaly
nasal Cranio fronto standard syndrome teebi
Cranio métaphysaire dominant dysplasy
Cranio métaphysaire recessive dysplasy
Cranio micromelic syndrome
Cranio ostéo arthropathy
Craniopharyngiome
Craniosténose cardiopathy backwardness
Craniosténose cataract
Craniosténose backwardness cardiac anomalies
Craniosténose backwardness slit
Craniosynostoses or Craniosténoses (generic term)
standard Craniosténose fountain
standard Craniosténose maroteaux fonfria
abnormal Craniosynostose alopécie ventricle cerebral
Craniosynostose aplasia of the fibula
Craniosynostose radial aplasia
standard Craniosynostose radial aplasia imaizumi
Craniosynostose arthrogrypose palatine slit
Craniosynostose with intracranial calcifications
Craniosynostose brachydactylie
Craniosynostose congenital maternal hyperthyroidism
Craniosynostose diminish slit
Craniosynostose coronale, nonsyndromic, standard Muenke
Craniosynostose dandy Walker hydrocéphalie
Craniosynostose d' Herrmann Opitz
Craniosynostose exostoses naevus cysts dermoïdes
Craniosynostose slit labiopalatine arthrogrypose
Craniosynostose forms dominant autosomic
Craniosynostose synostoses multiple nephropathy
standard Craniosynostose Philadelphia
standard Craniosynostose warman
Craniosynostose hydrencéphalie telencephalic aplasia of the inch
Cranio dysplasy
Craniotubulaire, syndrome
cerebral Créatine, deficit in
Creutzfeldt-Jakob, disease of
Cri of the cat, syndrome of the
Crigler-Najjar, syndrome of
benign Crises partial ofteenager
Crisponi syndrome of
Criss-cross-country race
Criswick-Schepens, syndrome of
Disease of Crohn|Crohn, disease of
slow Growth of the hair
Cronkhite Canada syndrome of
Cross-country race syndrome of
Crouzon, disease of
Crow-Fukase, syndrome of
Cryoglobulinémie
Cryptococcosis
Cryptomicrotie brachydactylie dermatoglyphes anomalies
Cryptophtalmie-syndactylie, syndrome
Cryptorchidie arachnodactylie backwardness
Cryptosporidiose
C syndrome

CU-CX

Cubito-mammaire, syndrome
Ulna and fibula severe anomalies absence of the members
Ulna family hypoplasy
Copper benign deficiency in
Copper disease transport of
Culler Jones syndrome of
Currarino, triad of
Curry hall syndrome of
Curry Jones syndrome of
Curtis rogers stevenson syndrome of
Cushing, family, syndrome of
standard Cutaneo cardio osteoarticulaire syndrome borrone
Cuti-reactions gyrata acanthosis nigricans craniosynostose
Cuti-reactions laxa
Cuti-reactions laxa corneal opacity backwardness
Cuti-reactions laxa osteoporosis
Cuti-reactions marmorata telangiectatica congenita
Cuti-reactions verticis gyrata backwardness
Cuti-reactions verticis gyrata thyroid aplasia backwardness
low Cutler romshe syndrome of

CY

Cyclosporose
Cylindromatose de Poncet-Spiegler
Kyphosis brachytéléphalangie atyrophie optical
Cystathionine beta-synthase, deficit in
Cystathioninurie
Cysticercosis
Cystinose
Cystinurie
Cystinurie-lysinurie
interstitial Cystitis
Cytochrome C oxydase, deficit in
Cytomegalovirus, infection anténatale with the
Cytopathies mitochondriales (generic term)

CZ

Czeizel broosern syndrome of
Czeizel losoncin syndrome of
Czeizel, syndrome of

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