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> List of rare diseases starting with C
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List of rare diseases starting with C
This list of
rare diseases
was originally taken from the
NIH
public domain resource
at
http://ord.aspensys.com/diseases.asp
.
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
C syndrome[?]
C1 esterase deficiency, (type 2 with ascites)[?]
Cacchi Ricci disease[?]
CACH syndrome[?]
Cacophobia[?]
Cafe au lait spots syndrome[?]
Caffey disease[?]
CAHMR syndrome[?]
Calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia[?]
Calciphylaxis[?]
Calculi[?]
Calderon Gonzalez Cantu syndrome[?]
Calloso genital dysplasia[?]
Callus disease[?]
Calpainopathy[?]
Calvarial hyperostosis[?]
Camera Marugo -Cohen syndrome[?]
Camfak syndrome[?]
Campomelia Cumming type[?]
Camptobrachydactyly[?]
Camptocormism[?]
Camptodactyly fibrous tissue hyperplasia skeletal dysplasia[?]
Camptodactyly joint contractures facial skeletal dysplasia[?]
Camptodactyly overgrowth unusual facies[?]
Camptodactyly syndrome Guadalajara type 1[?]
Camptodactyly syndrome Guadalajara type 2[?]
Camptodactyly taurinuria[?]
Camptodactyly vertebral fusion[?]
Camptomelic syndrome[?]
Camurati Engelmann disease[?]
Canavan leukodystrophy[?]
Candidiasis familial chronic[?]
Canga's bead symptom
Cantalamessa Baldini Ambrosi syndrome[?]
Cantu Sanchez Corona Fragoso syndrome[?]
Cantu Sanchez Corona Garcia syndrome[?]
Cantu Sanchez Corona Hernandes syndrome[?]
Capillary leak syndrome with monoclonal gammopathy[?]
Capillary venous leptomeningeal angiomatosis[?]
Capos syndrome[?]
Caratolo Cilio Pessagno syndrome[?]
Carbamoyl phosphate synthetase deficiency[?]
Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency)[?]
Carbohydrate deficient glycoprotein syndrome[?]
Carbon baby syndrome[?]
Carbonic anhydrase II deficiency[?]
Carcinoid syndrome[?]
Carcinoma of the vocal tract[?]
Carcinoma, squamous cell of head and neck[?]
Carcinoma, squamous cell[?]
Carcinophobia[?]
Cardiac and laterality defects[?]
Cardiac conduction defect, familial[?]
Cardiac diverticulum[?]
Cardiac hydatid cysts with intracavitary expansion[?]
Cardiac malformation[?]
Cardiac valvular dysplasia, X-linked[?]
Cardioauditory syndrome of Sanchez- Cascos[?]
Cardioauditory syndrome[?]
Cardiofacial syndrome short limbs[?]
Cardio-facio-cutaneous syndrome[?]
Cardiogenital syndrome[?]
Cardiomelic syndrome Stratton Koehler type[?]
Cardiomyopathic lentiginosis[?]
Cardiomyopathy cataract hip spine disease[?]
Cardiomyopathy diabetes deafness[?]
Cardiomyopathy dilated with conduction defect type 1[?]
Cardiomyopathy dilated with conduction defect type 2[?]
Cardiomyopathy due to anthracyclines[?]
Cardiomyopathy hearing loss type t RNA lysine gene mutation[?]
Cardiomyopathy hypogonadism metabolic anomalies[?]
Cardiomyopathy spherocytosis[?]
Cardiomyopathy, familial dilated[?]
Cardiomyopathy, familial hypertrophic[?]
Cardiomyopathy, fatal fetal, due to myocardial calcification[?]
Cardiomyopathy, Hypertrophic, Familial[?]
Cardiomyopathy, X linked, fatal infantile[?]
Cardiophobia[?]
Cardioskeletal myopathy-neutropenia[?]
Cardiospasm[?]
Carey Fineman Ziter syndrome[?]
Carnevale Canun Mendoza syndrome[?]
Carnevale Hernandez Castillo syndrome[?]
Carnevale Krajewska Fischetto syndrome[?]
Carney syndrome[?]
Carnitine palmitoyl transferase 1 deficiency[?]
Carnitine palmitoyl transferase 2 deficiency[?]
Carnitine palmitoyl transferase deficiency[?]
Carnitine transporter deficiency[?]
Carnitine-acylcarnitine translocase deficiency[?]
Carnophobia[?]
Carnosinase deficiency[?]
Carnosinemia[?]
Caroli disease[?]
Carpal deformity migrognathia microstomia[?]
Carpal tunnel syndrome
Carpenter Hunter type[?]
Carpenter syndrome[?]
Carpo tarsal osteolysis recessive[?]
Carpotarsal osteochondromatosis[?]
Carrington syndrome[?]
Cartilage hair hypoplasia like syndrome[?]
Cartilaginous neoplasms[?]
Cartwright Nelson Fryns syndrome[?]
Cassia Stocco Dos Santos syndrome[?]
Castleman's disease[?]
Castro Gago Pombo Novo syndrome[?]
Cat cry syndrome[?]
Cat Eye syndrome[?]
Cat Rodrigues syndrome[?]
Cat Scratch Disease[?]
Catagelophobia[?]
Catapedaphobia[?]
Cataract ,congenital ichthyosis[?]
Cataract aberrant oral frenula growth retardation[?]
Cataract anterior polar dominant[?]
Cataract ataxia deafness[?]
Cataract cardiomyopathy[?]
Cataract congenital autosomal dominant[?]
Cataract congenital dominant non nuclear[?]
Cataract congenital Volkmann type[?]
Cataract congenital with microphthalmia[?]
Cataract dental syndrome[?]
Cataract Hutterite type[?]
Cataract hypertrichosis mental retardation[?]
Cataract mental retardation hypogonadism[?]
Cataract microcornea syndrome[?]
Cataract microphthalmia septal defect[?]
Cataract skeletal anomalies[?]
Cataract, alopecia, sclerodactyly[?]
Cataract, congenital, with microcornea or slight microphthalmia[?]
Cataract, total congenital[?]
Cataract-glaucoma[?]
CATCH 22 syndrome
Catecholamine hypertension[?]
Catel Manzke syndrome[?]
Caudal appendage deafness[?]
Caudal duplication[?]
Caudal regression syndrome[?]
Causalgia[?]
Cavernous hemangioma[?]
Cavernous lymphangioma[?]
Cayler syndrome[?]
CCA syndrome[?]
Ccge syndrome[?]
CCHS[?]
CDG syndrome type 1A
CDG syndrome type 1B[?]
CDG syndrome type 1C[?]
CDG syndrome type 2[?]
CDG syndrome type 3[?]
CDG syndrome type 4[?]
CDG syndrome
CDK4 linked melanoma[?]
Cecato De lima Pinheiro syndrome[?]
Celiac disease epilepsy occipital calcifications[?]
Celiac sprue[?]
Cenani Lenz syndactylism
Cennamo Gangemi syndrome[?]
Central core disease[?]
Central diabetes insipidus[?]
Central nervous system protozoal infections[?]
Central serous chorioretinopathy[?]
Central type neurofibromatosis[?]
Centromeric instability immunodeficiency syndrome[?]
Centronuclear myopathy, congenital[?]
Centrotemporal epilepsy[?]
Cephalopolysyndactyly[?]
Ceramidase deficiency[?]
Ceramide trihexosidosis[?]
Ceraunophobia[?]
Cerebellar agenesis[?]
Cerebellar ataxia areflexia pes cavus optic atrophy[?]
Cerebellar ataxia ectodermal dysplasia[?]
Cerebellar ataxia infantile with progressive external ophthalmoplegia[?]
Cerebellar ataxia, dominant pure[?]
Cerebellar ataxia[?]
Cerebellar degeneration, subacute[?]
Cerebellar degeneration[?]
Cerebellar hypoplasia endosteal sclerosis[?]
Cerebellar hypoplasia tapetoretinal degeneration[?]
Cerebellar hypoplasia[?]
Cerebellar parenchymal degeneration[?]
Cerebelloolivary atrophy[?]
Cerebelloparenchymal disorder 3[?]
Cerebellum agenesis hydrocephaly[?]
Cerebral Amyloid Angiopathy, Familial[?]
Cerebral amyloid angiopathy[?]
Cerebral aneurysm
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy[?]
Cerebral calcification cerebellar hypoplasia[?]
Cerebral calcifications opalescent teeth phosphaturia[?]
Cerebral cavernous malformation[?]
Cerebral cavernous malformations[?]
Cerebral gigantism jaw cysts[?]
Cerebral gigantism[?]
Cerebral malformations hypertrichosis claw hands[?]
Cerebral palsy
Cerebral ventricle neoplasm[?]
Cerebro facio articular syndrome[?]
Cerebro facio thoracic dysplasia[?]
Cerebro oculo dento auriculo skeletal syndrome[?]
Cerebro oculo genital syndrome[?]
Cerebro oculo skeleto renal syndrome[?]
Cerebro reno digital syndrome[?]
Cerebroarthrodigital syndrome[?]
Cerebro-costo-mandibular syndrome[?]
Cerebro-oculo-facio-skeletal syndrome[?]
Cerebroretinal vasculopathy[?]
Ceroid lipofuscinose, neuronal 1, infantile[?]
Ceroid lipofuscinose, neuronal 2, late infantile[?]
Ceroid lipofuscinose, neuronal 3, juvenile[?]
Ceroid lipofuscinose, neuronal 4, adult type[?]
Ceroid lipofuscinose, neuronal 5, late infantile,[?]
Ceroid lipofuscinose, neuronal 6, late infantile[?]
Ceroid lipofuscinose, neuronal[?]
Ceroid lipofuscinosis, neuronal 4[?]
Cervical cancer
Cervical hypertrichosis neuropathy[?]
Cervical hypertrichosis peripheral neuropathy[?]
Cervical ribs sprengel anomaly polydactyly[?]
Cervical vertebral fusion[?]
Cervicooculoacoustic syndrome[?]
Chagas disease
Chalazion[?]
Chanarin disease[?]
Chanarin Dorfman syndrome ichthyosis[?]
Chandler's syndrome[?]
Chands syndrome[?]
Chang Davidson Carlson syndrome[?]
Chaotic atrial tachycardia[?]
Char syndrome[?]
Charcot disease[?]
Charcot Marie tooth disease deafness dominant type[?]
Charcot Marie tooth disease deafness mental retardation[?]
Charcot Marie Tooth disease deafness recessive type[?]
Charcot Marie Tooth type 1 aplasia cutis congenita[?]
Charcot-Marie-Tooth disease, X-linked type 2, recessive[?]
Charcot-Marie-Tooth disease, X-linked type 3, recessive[?]
Charcot-Marie-Tooth disease type 1A[?]
Charcot-Marie-Tooth disease type 1B[?]
Charcot-Marie-Tooth disease type 1C[?]
Charcot-Marie-Tooth disease type 2A[?]
Charcot-Marie-Tooth disease type 2B1[?]
Charcot-Marie-Tooth disease type 2B2[?]
Charcot-Marie-Tooth disease type 2C[?]
Charcot-Marie-Tooth disease type 2D[?]
Charcot-Marie-Tooth disease type 4A[?]
Charcot-Marie-Tooth disease type 4B[?]
Charcot-Marie-Tooth disease with ptosis and parkinsonism[?]
Charcot-Marie-Tooth disease, intermediate form[?]
Charcot-Marie-Tooth disease, neuronal, type A[?]
Charcot-Marie-Tooth disease, neuronal, type B[?]
Charcot-Marie-Tooth disease, neuronal, type D[?]
Charcot-Marie-tooth disease[?]
Charcot-Marie-Tooth peroneal muscular atrophy, X-linked[?]
CHARGE Association[?]
Charlie M syndrome[?]
Chavany-Brunhes syndrome[?]
Chediak-Higashi syndrome[?]
Cheilitis glandularis[?]
Chemke Oliver Mallek syndrome[?]
Chemodectoma[?]
Chemophobia
Chen Kung Ho Kaufman Mcalister syndrome[?]
Cherubism[?]
Chiari type 1 malformation[?]
Chiari-Frommel syndrome[?]
Chikungunya[?]
CHILD syndrome ichthyosis[?]
Childhood disintegrative disorder[?]
Childhood pustular psoriasis[?]
Chionophobia[?]
Chiraptophobia[?]
Chirophobia[?]
Chitayat Haj Chahine syndrome[?]
Chitayat Meunier Hodgkinson syndrome[?]
Chitayat Moore Del Bigio syndrome[?]
Chitty Hall Baraitser syndrome[?]
Chitty Hall Webb syndrome[?]
Chlamydia
Chlamydial and Gonococcal Conjunctivitis[?]
Choanal atresia deafness cardiac defects dysmorphia[?]
Cholangiocarcinoma[?]
Cholangitis, primary sclerosing[?]
Cholecystitis[?]
Choledochal cyst, hand malformation[?]
Cholemia, familial[?]
Cholera
Cholerophobia[?]
Cholestasis pigmentary retinopathy cleft palate[?]
Cholestasis, progressive familial intrahepatic 1[?]
Cholestasis, progressive familial intrahepatic 2[?]
Cholestasis, progressive familial intrahepatic 3[?]
Cholestasis, progressive familial intrahepatic[?]
Cholestasis[?]
Cholestatic jaundice renal tubular insufficiency[?]
Cholesterol ester storage disease[?]
Cholesterol esterification disorder[?]
Cholesterol pneumonia[?]
Chondroblastoma (benign)[?]
Chondrocalcinosis familial articular[?]
Chondrocalcinosis[?]
Chondrodysplasia lethal recessive[?]
Chondrodysplasia pseudohermaphrodism syndrome[?]
Chondrodysplasia punctata 1, x-linked recessive[?]
Chondrodysplasia punctata with steroid sulfatase deficiency[?]
Chondrodysplasia punctata, brachytelephalangic[?]
Chondrodysplasia punctata, Sheffield type[?]
Chondrodysplasia punctata[?]
Chondrodysplasia situs inversus imperforate anus polydactyly[?]
Chondrodysplasia, Grebe type[?]
Chondrodystrophy[?]
Chondroectodermal dysplasia[?]
Chondroma (benign)[?]
Chondromalacia[?]
Chondromatosis (benign)[?]
Chondrosarcoma (malignant)[?]
Chondrysplasia punctata, humero-metacarpal type[?]
Chordoma[?]
Chorea acanthocytosis[?]
Chorea familial benign[?]
Chorea minor[?]
Chorea
Choreoacanthocytosis amyotrophic[?]
Choreoathetosis familial paroxysmal[?]
Choriocarcinoma[?]
Chorioretinitis
Chorioretinopathy dominant form microcephaly[?]
Choroid plexus cyst[?]
Choroid Plexus neoplasms[?]
Choroidal atrophy alopecia[?]
Choroideremia hypopituitarism[?]
Choroideremia[?]
Choroiditis, serpiginous[?]
Choroiditis[?]
Choroido cerebral calcification syndrome infantile[?]
Chorophobia[?]
Christian Demyer Franken syndrome[?]
Christian Johnson Angenieta syndrome[?]
Christian syndrome[?]
Christianson Fourie syndrome[?]
Christmas disease
Chromomycosis[?]
Chromophobe renal carcinoma[?]
Chromophobia[?]
Chromosomal triplication[?]
Chromosome 1 ring[?]
Chromosome 1, 1p36 deletion syndrome[?]
Chromosome 1, deletion q21 q25[?]
Chromosome 1, duplication 1p21 p32[?]
Chromosome 1, monosomy 1p[?]
Chromosome 1, monosomy 1p22 p13[?]
Chromosome 1, monosomy 1p31 p22[?]
Chromosome 1, monosomy 1p32[?]
Chromosome 1, monosomy 1p34 p32[?]
Chromosome 1, monosomy 1q25 q32[?]
Chromosome 1, monosomy 1q32 q42[?]
Chromosome 1, monosomy 1q4[?]
Chromosome 1, q42 11 q42 12 duplication[?]
Chromosome 1, trisomy 1q32 qter[?]
Chromosome 1, trisomy 1q42 qter[?]
Chromosome 1, uniparental disomy 1q12 q21[?]
Chromosome 10 ring[?]
Chromosome 10, distal trisomy 10q[?]
Chromosome 10, monosomy 10p[?]
Chromosome 10, monosomy 10q[?]
Chromosome 10, trisomy 10p[?]
Chromosome 10, trisomy 10pter p13[?]
Chromosome 10, trisomy 10q[?]
Chromosome 10, uniparental disomy of[?]
Chromosome 10p terminal deletion syndrome[?]
Chromosome 11, deletion 11p[?]
Chromosome 11, partial trisomy 11q[?]
Chromosome 11-14 translocation[?]
Chromosome 11p, partial deletion[?]
Chromosome 11q partial deletion[?]
Chromosome 11q trisomy[?]
Chromosome 12 ring[?]
Chromosome 12, 12p trisomy[?]
Chromosome 12, trisomy 12q[?]
Chromosome 12p deletion[?]
Chromosome 12p partial deletion[?]
Chromosome 13 duplication[?]
Chromosome 13 ring[?]
Chromosome 13, partial monosomy 13q[?]
Chromosome 13p duplication[?]
Chromosome 13q deletion[?]
Chromosome 13q trisomy[?]
Chromosome 13q-mosaicism[?]
Chromosome 14 ring[?]
Chromosome 14 trisomy[?]
Chromosome 14, deletion 14q, partial duplication 14p[?]
Chromosome 14, trisomy mosaic[?]
Chromosome 14q, partial deletions[?]
Chromosome 14q, proximal duplication[?]
Chromosome 14q, terminal deletion[?]
Chromosome 14q, terminal duplication[?]
Chromosome 15 ring[?]
Chromosome 15, distal trisomy 15q[?]
Chromosome 15, trisomy mosaicism[?]
Chromosome 15q, partial deletion
Chromosome 15q, tetrasomy[?]
Chromosome 15q, trisomy
Chromosome 16, trisomy 16p[?]
Chromosome 16, trisomy 16q[?]
Chromosome 16, trisomy[?]
Chromosome 16, uniparental disomy[?]
Chromosome 17 trisomy[?]
Chromosome 17 deletion[?]
Chromosome 17 ring[?]
Chromosome 17, deletion 17q23 q24[?]
Chromosome 17, trisomy 17p[?]
Chromosome 17, trisomy 17p11 2[?]
Chromosome 17, trisomy 17q22[?]
Chromosome 18 long arm deletion syndrome[?]
Chromosome 18 mosaic monosomy[?]
Chromosome 18 ring[?]
Chromosome 18, deletion 18q23[?]
Chromosome 18, monosomy 18p[?]
Chromosome 18, tetrasomy 18p[?]
Chromosome 18, trisomy 18p[?]
Chromosome 18, trisomy 18q[?]
Chromosome 18, trisomy[?]
Chromosome 19 ring[?]
Chromosome 19, trisomy 19q[?]
Chromosome 1q, duplication 1q12 q21[?]
Chromosome 2, monosomy 2p22[?]
Chromosome 2, monosomy 2pter p24[?]
Chromosome 2, monosomy 2q[?]
Chromosome 2, monosomy 2q24[?]
Chromosome 2, monosomy 2q37[?]
Chromosome 2, trisomy 2p[?]
Chromosome 2, Trisomy 2p13 p21[?]
Chromosome 2, trisomy 2pter p24[?]
Chromosome 2, trisomy 2q[?]
Chromosome 2, trisomy 2q37[?]
Chromosome 20 ring[?]
Chromosome 20, deletion 20p[?]
Chromosome 20, duplication 20p[?]
Chromosome 20, trisomy[?]
Chromosome 21 monosomy[?]
Chromosome 21 ring[?]
Chromosome 21, monosomy 21q22[?]
Chromosome 21, tetrasomy 21q[?]
Chromosome 21, uniparental disomy of[?]
Chromosome 22 ring[?]
Chromosome 22 trisomy mosaic[?]
Chromosome 22, microdeletion 22 q11
Chromosome 22, monosome mosaic[?]
Chromosome 22, trisomy q11 q13[?]
Chromosome 22, trisomy[?]
Chromosome 3 duplication syndrome[?]
Chromosome 3, monosomy 3p[?]
Chromosome 3, monosomy 3p14 p11[?]
Chromosome 3, monosomy 3p2[?]
Chromosome 3, monosomy 3p25[?]
Chromosome 3, monosomy 3q13[?]
Chromosome 3, monosomy 3q21 23[?]
Chromosome 3, monosomy 3q27[?]
Chromosome 3, trisomy 3p[?]
Chromosome 3, trisomy 3p25[?]
Chromosome 3, trisomy 3q[?]
Chromosome 3, trisomy 3q13 2 q25[?]
Chromosome 3, Trisomy 3q2[?]
Chromosome 4 ring[?]
Chromosome 4 short arm deletion[?]
Chromosome 4, monosomy 4p14 p16[?]
Chromosome 4, monosomy 4q[?]
Chromosome 4, monosomy 4q32[?]
Chromosome 4, monosomy distal 4q[?]
Chromosome 4, partial trisomy distal 4q[?]
Chromosome 4, Trisomy 4p[?]
Chromosome 4, trisomy 4q[?]
Chromosome 4, trisomy 4q21[?]
Chromosome 4, trisomy 4q25 qter[?]
Chromosome 5, monosomy 5q35[?]
Chromosome 5, trisomy 5p[?]
Chromosome 5, trisomy 5pter p13 3[?]
Chromosome 5, trisomy 5q[?]
Chromosome 5, uniparental disomy[?]
Chromosome 6 ring[?]
Chromosome 6, deletion 6q13 q15[?]
Chromosome 6, monosomy 6p23[?]
Chromosome 6, monosomy 6q[?]
Chromosome 6, monosomy 6q1[?]
Chromosome 6, monosomy 6q2[?]
Chromosome 6, partial trisomy 6q[?]
Chromosome 6, trisomy 6p[?]
Chromosome 6, trisomy 6q[?]
Chromosome 7 ring[?]
Chromosome 7, monosomy 7q2[?]
Chromosome 7, monosomy 7q21[?]
Chromosome 7, monosomy 7q3[?]
Chromosome 7, monosomy[?]
Chromosome 7, partial monosomy 7p[?]
Chromosome 7, trisomy 7p[?]
Chromosome 7, trisomy 7p13 p12 2[?]
Chromosome 7, trisomy 7q[?]
Chromosome 7, trisomy mosaic[?]
Chromosome 8 deletion[?]
Chromosome 8 ring[?]
Chromosome 8, monosomy 8p[?]
Chromosome 8, monosomy 8p2[?]
Chromosome 8, monosomy 8p23 1[?]
Chromosome 8, monosomy 8q[?]
Chromosome 8, mosaic trisomy[?]
Chromosome 8, partial trisomy[?]
Chromosome 8, trisomy 8p[?]
Chromosome 8, trisomy 8q[?]
Chromosome 8, trisomy[?]
Chromosome 9 inversion or duplication[?]
Chromosome 9 Ring[?]
Chromosome 9, duplication 9q21[?]
Chromosome 9, monosomy 9p[?]
Chromosome 9, partial monosomy 9p[?]
Chromosome 9, partial trisomy 9p[?]
Chromosome 9, tetrasomy 9p[?]
Chromosome 9, trisomy 9q[?]
Chromosome 9, trisomy 9q32[?]
Chromosome 9, trisomy mosaic[?]
Chromosome 9, trisomy[?]
Chromosomes 1 and 2, monosomy 2q duplication 1p[?]
Chronic berylliosis[?]
Chronic demyelinizing neuropathy with IgM monoclonal[?]
Chronic erosive gastritis[?]
Chronic fatigue immune dysfunction syndrome[?]
Chronic granulomatous disease[?]
Chronic hiccup[?]
Chronic inflammatory demyelinating polyneuropathy[?]
Chronic lymphocytic leukemia[?]
Chronic myelogenous leukemia[?]
Chronic myelomonocytic leukemia[?]
Chronic necrotizing vasculitis[?]
Chronic neutropenia[?]
Chronic polyradiculoneuritis[?]
Chronic recurrent multifocal osteomyelitis[?]
Chronic renal failure[?]
Chronic spasmodic dysphonia[?]
Chronic, infantile, neurological, cutaneous, articular syndrome[?]
Chronomentrophobia[?]
Chudley Lowry Hoar syndrome[?]
Chudley Rozdilsky syndrome[?]
Chudley-Mccullough syndrome[?]
Churg-Strauss syndrome[?]
Chylous ascites[?]
Cicatricial pemphigoid[?]
Ciguatera fish poisoning[?]
Ciliary discoordination, due to random ciliary orientation[?]
Ciliary dyskinesia, due to transposition of ciliary microtubules[?]
Ciliary dyskinesia-bronchiectasis[?]
Cilliers Beighton syndrome[?]
Circumscribed cutaneous aplasia of the vertex[?]
Circumscribed disseminated keratosis Jadassohn Lew type[?]
Citrullinemia[?]
Clarkson disease[?]
Clayton Smith Donnai syndrome[?]
Cleft hand absent tibia[?]
Cleft lip and palate malrotation cardiopathy[?]
Cleft lip and/or palate with mucous cysts of lower[?]
Cleft lip palate abnormal thumbs microcephaly[?]
Cleft lip palate deafness sacral lipoma[?]
Cleft lip palate dysmorphism Kumar type[?]
Cleft lip palate ectrodactyly[?]
Cleft lip palate incisor and finger anomalies[?]
Cleft lip palate mental retardation corneal opacity[?]
Cleft lip palate oligodontia syndactyly pili torti[?]
Cleft lip palate pituitary deficiency[?]
Cleft lip palate-tetraphocomelia[?]
Cleft lip with or without cleft palate[?]
Cleft lip
Cleft lower lip cleft lateral canthi chorioretinal[?]
Cleft palate cardiac defect ectrodactyly[?]
Cleft palate colobomata radial synostosis deafness[?]
Cleft palate heart disease polydactyly absent tibia[?]
Cleft palate lateral synechia syndrome[?]
Cleft palate short stature vertebral anomalies[?]
Cleft palate stapes fixation oligodontia[?]
Cleft palate X linked[?]
Cleft palate
Cleft tongue syndrome[?]
Cleft upper lip median cutaneous polyps[?]
Clefting ectropion conical teeth[?]
Cleidocranial dysplasia micrognathia absent thumbs[?]
Cleidocranial dysplasia[?]
Cleisiophobia[?]
Climacophobia[?]
Clinophobia
Cloacal exstrophy[?]
Clouston syndrome[?]
Cloverleaf skull bone dysplasia[?]
Cloverleaf skull micromelia thoracic dysplasia[?]
Cluster headache[?]
CMV antenatal infection[?]
Coach syndrome[?]
Coal worker's pneumoconiosis[?]
Coarctation of aorta dominant[?]
Coarse face hypotonia constipation[?]
Coats disease[?]
Cocaine antenatal infection[?]
Cocaine fetopathy[?]
Cochin Jewish Disorder[?]
Cockayne syndrome type 1[?]
Cockayne syndrome type 2[?]
Cockayne syndrome type 3[?]
Cockayne's syndrome[?]
Codas syndrome[?]
Coenzyme Q cytochrome c reductase deficiency of[?]
Coffin-Lowry syndrome[?]
Coffin-Siris syndrome[?]
COFS syndrome[?]
Cogan-Reese syndrome[?]
Cogan's syndrome[?]
Cohen Hayden syndrome[?]
Cohen Lockood Wyborney syndrome[?]
Cohen syndrome[?]
Colavita Kozlowski syndrome[?]
Cold agglutination syndrome[?]
Cold agglutinin disease[?]
Cold antibody hemolytic anemia[?]
Cold contact urticaria[?]
Cold urticaria[?]
Cole carpenter syndrome[?]
Coleman Randall syndrome[?]
colitis[?]
Collagen disorder[?]
Collagenous colitis[?]
Collins Pope syndrome[?]
Collins Sakati syndrome[?]
Coloboma chorioretinal cerebellar vermis aplasia[?]
Coloboma hair abnormality[?]
Coloboma of choroid and retina[?]
Coloboma of eye lens[?]
Coloboma of iris[?]
Coloboma of lens ala nasi[?]
Coloboma of macula type B brachydactyly[?]
Coloboma of macula[?]
Coloboma of optic nerve[?]
Coloboma of optic papilla[?]
Coloboma porencephaly hydronephrosis[?]
Coloboma uveal with cleft lip palate and mental retardation[?]
Coloboma, ocular[?]
Colobomata unilobar lung heart defect[?]
Colobomatous microphthalmia heart disease hearing [?]
Colobomatous microphthalmia[?]
Colon cancer, familial nonpolyposis[?]
Colonic atresia[?]
Colonic malakoplakia[?]
Colorado tick fever[?]
Colver Steer Godman syndrome[?]
Combarros Calleja Leno syndrome[?]
Combined hyperlipidemia, familial[?]
Common mesentery[?]
Common variable immunodeficiency[?]
Compartment syndrome
Complement component 2 deficiency[?]
Complement component receptor 1[?]
Complete atrioventricular canal[?]
Complex 1 mitochondrial respiratory chain deficiency[?]
Complex 2 mitochondrial respiratory chain deficiency[?]
Complex 3 mitochondrial respiratory chain deficiency[?]
Complex 4 mitochondrial respiratory chain deficiency[?]
Complex 5 mitochondrial respiratory chain deficiency[?]
Conductive deafness malformed external ear[?]
Conductive hearing loss[?]
Condyloma acuminatum[?]
Condyloma[?]
Cone dystrophy[?]
Cone rod dystrophy amelogenesis imperfecta[?]
Cone rod dystrophy[?]
Congenital absence of the uterus and vagina[?]
Congenital adrenal hyperplasia type 1[?]
Congenital adrenal hyperplasia type 2[?]
Congenital adrenal hyperplasia type 3[?]
Congenital adrenal hyperplasia type 4[?]
Congenital adrenal hyperplasia type 5[?]
Congenital adrenal hyperplasia[?]
Congenital afibrinogenemia[?]
Congenital alopecia X linked[?]
Congenital amputation[?]
Congenital aneurysms of the great vessels[?]
Congenital antithrombin III deficiency[?]
Congenital aplastic anemia[?]
Congenital arteriovenous shunt[?]
Congenital articular rigidity[?]
Congenital benign spinal muscular atrophy dominant[?]
Congenital brain disorder[?]
Congenital bronchobiliary fistula[?]
Congenital cardiovascular disorder[?]
Congenital cardiovascular malformations[?]
Congenital cardiovascular shunt[?]
Congenital constricting band[?]
Congenital contractual arachnodactyly[?]
Congenital contractures[?]
Congenital craniosynostosis maternal hyperthyroiditis[?]
Congenital cystic adenomatoid malformation[?]
Congenital cystic eye multiple ocular and intracranial anomalies[?]
Congenital cytomegalovirus[?]
Congenital deafness[?]
Congenital diaphragmatic hernia[?]
Congenital erythropoietic porphyria[?]
Congenital facial diplegia[?]
Congenital fiber type disproportion[?]
Congenital gastrointestinal disorder[?]
Congenital generalized fibromatosis[?]
Congenital giant megaureter[?]
Congenital heart block[?]
Congenital heart disease ptosis hypodontia craniostosis[?]
Congenital heart disease radio ulnar synostosis mental retardation[?]
Congenital heart disorder[?]
Congenital heart septum defect[?]
Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects[?]
Congenital hemolytic anemia[?]
Congenital hepatic fibrosis[?]
Congenital hepatic porphyria[?]
Congenital herpes simplex[?]
Congenital hypomyelination neuropathy[?]
Congenital hypothyroidism[?]
Congenital hypotrichosis milia[?]
Congenital ichthyosis, microcephalus, quadriplegia[?]
Congenital ichthyosis[?]
Congenital ichtyosiform erythroderma[?]
Congenital kidney disorder[?]
Congenital lobar emphysema[?]
Congenital megacolon[?]
Congenital megalo-ureter[?]
Congenital mesoblastic nephroma[?]
Congenital microvillous atrophy[?]
Congenital mitral malformation[?]
Congenital mitral stenosis[?]
Congenital mixovirus[?]
Congenital mumps[?]
Congenital muscular dystrophy syringomyelia[?]
Congenital myopathy[?]
Congenital nephrotic syndrome, Finnish type[?]
Congenital nonhemolytic jaundice[?]
Congenital rubella[?]
Congenital short bowel[?]
Congenital short femur[?]
Congenital skeletal disorder[?]
Congenital skin disorder[?]
Congenital spherocytic anemia[?]
Congenital spherocytic hemolytic anemia[?]
Congenital stenosis of cervical medullary canal[?]
Congenital sucrose isomaltose malabsorption[?]
Congenital syphilis[?]
Congenital toxoplasmosis[?]
Congenital unilateral pulmonary hypoplasia[?]
Congenital vagal hyperreflexivity[?]
Congenital varicella syndrome[?]
Conjunctivitis ligneous[?]
Conjunctivitis with Pseudomembrane[?]
Conjunctivitis
Connective tissue dysplasia Spellacy type[?]
Connexin 26 anomaly[?]
Conn's syndrome[?]
Conotruncal heart malformations[?]
Conradi-Hünermann syndrome[?]
Constitutional growth delay[?]
Constrictive bronchiolitis[?]
Continuous muscle fiber activity hereditary[?]
Continuous spike-wave during slow sleep syndrome[?]
Contractural arachnodactyly[?]
Contractures ectodermal dysplasia cleft lip palate[?]
Contractures hyperkeratosis lethal[?]
Contractures of feet-muscle atrophy-oculomotor apraxia[?]
Conversion disorder[?]
Convulsions benign familial neonatal dominant form[?]
Convulsions benign familial neonatal[?]
Cooks syndrome[?]
Cooley's anemia[?]
Copper deficiency familial benign[?]
Copper transport disease[?]
Coprastasophobia[?]
Coprophobia[?]
Coproporhyria[?]
Cor biloculare[?]
Cor triatriatum[?]
Cormier Rustin Munnich syndrome[?]
Corneal anesthesia deafness mental retardation[?]
Corneal cerebellar syndrome[?]
Corneal crystals myopathy neuropathy[?]
Corneal dystrophy epithelial short stature[?]
Corneal dystrophy ichthyosis microcephaly mental retardation[?]
Corneal dystrophy perceptive deafness[?]
Corneal dystrophy pigmentary anomaly malabsorption[?]
Corneal dystrophy[?]
Corneal endothelium dystrophy[?]
Cornelia de Lange syndrome[?]
Corneodermatoosseous syndrome[?]
Coronal synostosis syndactyly jejunal atresia[?]
Coronaro-cardiac fistula[?]
Coronary arteries congenital malformation[?]
Coronary artery aneurysm[?]
Corpus callosum agenesis double urinary collecting[?]
Corpus callosum agenesis neuronopathy[?]
Corpus callosum agenesis of blepharophimosis Robin type[?]
Corpus callosum agenesis of with chorioretinal abnormalities[?]
Corpus callosum agenesis polysyndactyly[?]
Corpus callosum agenesis[?]
Corpus callosum dysgenesis cleft spasm[?]
Corpus callosum dysgenesis hypopituitarism[?]
Corpus callosum dysgenesis X linked recessive[?]
Corrected transposition[?]
Corsello Opitz syndrome[?]
Cortada Koussef Matsumoto syndrome[?]
Cortes Lacassie syndrome[?]
Cortical blindness mental retardation polydactyly[?]
Cortical degeneration of the cerebellum parenchymatous[?]
Cortical hyperostosis syndactyly[?]
Corticobasal degeneration[?]
Costello syndrome[?]
Costocoracoid ligament congenitally short[?]
Cote Adamopoulos Pantelakis syndrome[?]
Cote Katsantoni syndrome[?]
Cousin Walbraum Cegarra syndrome[?]
Covesdem syndrome[?]
Cowchock Wapner Kurtz syndrome[?]
Cowden's disease[?]
Cowpox
Coxoauricular syndrome[?]
Cramer Niederdellmann syndrome[?]
Cramp-fasciculations syndrome[?]
Crandall syndrome[?]
Crane-Heise syndrome[?]
Cranio osteoarthropathy[?]
Cranioacrofacial syndrome[?]
Craniodiaphyseal dysplasia[?]
Craniodigital syndrome mental retardation[?]
Cranioectodermal dysplasia[?]
Craniofacial and osseous defects mental retardation[?]
Craniofacial and skeletal defects[?]
Craniofacial deafness hand syndrome[?]
Craniofacial dysostosis arthrogryposis progeroid appearance[?]
Craniofacial dysostosis[?]
Craniofacial dysynostosis[?]
Craniofaciocardioskeletal syndrome[?]
Craniofaciocervical osteoglyphic dysplasia[?]
Craniofrontonasal dysplasia[?]
Craniofrontonasal syndrome Teebi type[?]
Craniometaphyseal dysplasia dominant type[?]
Craniometaphyseal dysplasia recessive type[?]
Craniomicromelic syndrome[?]
Craniostenosis cataract[?]
Craniostenosis with congenital heart disease mental retardation[?]
Craniostenosis[?]
Craniosynostosis alopecia brain defect[?]
Craniosynostosis arthrogryposis cleft palate[?]
Craniosynostosis autosomal dominant[?]
Craniosynostosis cleft lip palate arthrogryposis[?]
Craniosynostosis contractures cleft[?]
Craniosynostosis exostoses nevus epibulbar dermoid[?]
Craniosynostosis fibular aplasia[?]
Craniosynostosis Fontaine type[?]
Craniosynostosis Maroteaux Fonfria type[?]
Craniosynostosis mental retardation clefting syndrome[?]
Craniosynostosis mental retardation heart defects[?]
Craniosynostosis Philadelphia type[?]
Craniosynostosis radial aplasia syndrome[?]
Craniosynostosis synostoses hypertensive nephropathy[?]
Craniosynostosis Warman type[?]
Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus[?]
Craniosynostosis[?]
Craniotelencephalic dysplasia[?]
Crawfurd syndrome[?]
Creatine deficiency[?]
Creeping disease[?]
CREST syndrome[?]
Cretinism athyreotic[?]
Cretinism
Cri du chat syndrome
Crigler Najjar syndrome type I[?]
Crisponi syndrome[?]
Criss cross syndrome[?]
Criswick-Schepens syndrome[?]
Crohn's disease of the esophagus[?]
Crohn's disease
Crome syndrome[?]
Cronkhite-Canada disease[?]
Crossed polydactyly type 1[?]
Crossed polysyndactyly[?]
Crow-Fukase syndrome[?]
Cryoglobulinemia[?]
Cryophobia[?]
Cryptococcosis[?]
Cryptogenic organized pneumopathy[?]
Cryptomicrotia brachydactyly syndrome excess fingers[?]
Cryptomicrotia brachydactyly syndrome[?]
Cryptophthalmos-syndactyly syndrome[?]
Cryptorchidism arachnodactyly mental retardation[?]
Cryptosporidiosis[?]
Cryroglobulinemia[?]
Crystal deposit disease[?]
Crystallophobia[?]
Culler Jones syndrome[?]
Curly hair ankyloblepharon nail dysplasia syndrome[?]
Currarino triad[?]
Curry Hall syndrome[?]
Curth-Macklin type ichthyosis hystrix[?]
Curtis Rogers Stevenson syndrome[?]
Cushing syndrome, familial[?]
Cushing's symphalangism[?]
Cushing's syndrome
Cutaneous anthrax[?]
Cutaneous larva migrans[?]
Cutaneous lupus erythematosus[?]
Cutaneous photosensitivity colitis lethal[?]
Cutaneous T-cell lymphoma[?]
Cutaneous vascularitis[?]
Cutis Gyrata syndrome of Beare and Stevenson[?]
Cutis gyratum acanthosis nigricans craniosynostosis[?]
Cutis laxa , recessive[?]
Cutis laxa corneal clouding mental retardation[?]
Cutis laxa osteoporosis[?]
Cutis laxa with joint laxity and retarded development[?]
Cutis laxa, dominant type[?]
Cutis laxa, recessive type 1[?]
Cutis laxa, recessive type 2[?]
Cutis laxa[?]
Cutis marmorata telangiectatica congenita[?]
Cutis verticis gyrata mental deficiency[?]
Cutis verticis gyrata thyroid aplasia mental retardation[?]
Cutis verticis gyrata[?]
Cutler Bass Romshe syndrome[?]
Cyclic neutropenia[?]
Cyclic vomiting syndrome[?]
Cyclosporosis[?]
Cypress facial neuromusculoskeletal syndrome[?]
Cystathionine beta synthetase deficiency[?]
Cystic adenomatoid malformation of lung[?]
Cystic angiomatosis of bone, diffuse[?]
Cystic fibrosis gastritis megaloblastic anemia[?]
Cystic fibrosis
Cystic hamartoma of lung and kidney[?]
Cystic hygroma lethal cleft palate[?]
Cystic hygroma[?]
Cystic medial necrosis of aorta[?]
Cystin transport, protein defect of[?]
Cystinosis[?]
Cystinuria[?]
Cystinuria-lysinuria[?]
Cytochrome C oxidase deficiency[?]
Cytomegalic inclusion disease[?]
Cytomegalovirus
Cytoplasmic body myopathy[?]
Czeizel Losonci syndrome[?]
Czeizel syndrome[?]
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