Web Guide: Encyclopedia

List of rare diseases starting with C

Redirected from List of rare diseases/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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