| | C1 esterase deficiency (angioedema) |
| | CHILD syndrome ichthyosis |
| | CREST syndrome (Calcinosis Raynaud's Esophagus Sclerodactyly Telangiectasia) |
| | Cafe au lait spots syndrome |
| | Calderon Gonzalez Cantu syndrome |
| | Calloso genital dysplasia |
| | Camera Marugo-Cohen syndrome |
| | 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 vertebral fusion |
| | Camurati Engelmann disease |
| | Candidiasis familial chronic |
| | 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 |
| | Caratolo Cilio Pessagno syndrome |
| | Carbamoyl phosphate synthetase deficiency |
| | Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency) |
| | Carbohydrate deficient glycoprotein syndrome |
| | Carbonic anhydrase II deficiency |
| | Carcinoma of the vocal tract |
| | Carcinoma, squamous cell of head and neck |
| | Cardiac and laterality defects |
| | Cardiac conduction defect, familial |
| | Cardiac hydatid cysts with intracavitary expansion |
| | Cardiac valvular dysplasia, X-linked |
| | Cardioauditory syndrome of Sanchez-Cascos |
| | Cardiofacial syndrome short limbs |
| | Cardiofaciocutaneous syndrome |
| | Cardiomelic syndrome Stratton Koehler type |
| | Arrhythmogenic right ventricular cardiomyopathy |
| | 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, X linked, fatal infantile |
| | Cardiomyopathy, familial dilated |
| | Cardiomyopathy, fatal fetal, due to myocardial calcification |
| | Hypertrophic cardiomyopathy familial |
| | Restrictive cardiomyopathy |
| | Cardioskeletal myopathy-neutropenia |
| | Carey Fineman Ziter syndrome |
| | Carnevale Canun Mendoza syndrome |
| | Carnevale Hernandez Castillo syndrome |
| | Carnevale Krajewska Fischetto syndrome |
| | Carnitine palmitoyl transferase 1 deficiency |
| | Carnitine palmitoyl transferase 2 deficiency |
| | Carnitine palmitoyl transferase deficiency |
| | Carnitine transporter deficiency |
| | Carnitine-acylcarnitine translocase deficiency |
| | Carotid artery dissection |
| | Carpal deformity migrognathia microstomia |
| | Carpo tarsal osteolysis recessive |
| | Carpotarsal osteochondromatosis |
| | Cartilage hair hypoplasia like syndrome |
| | Cartilage-hair hypoplasia |
| | Cartwright Nelson Fryns syndrome |
| | Cassia Stocco Dos Santos syndrome |
| | Castro Gago Pombo Novo syndrome |
| | Cat cry syndrome (Cri du chat) |
| | Cataract aberrant oral frenula growth retardation |
| | Cataract anterior polar dominant |
| | Cataract congenital Volkmann type |
| | Cataract congenital autosomal dominant |
| | Cataract congenital dominant non nuclear |
| | Cataract congenital with microphthalmia |
| | 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,congenital ichthyosis |
| | Catecholamine hypertension |
| | Caudal appendage deafness |
| | Caudal regression syndrome |
| | Cavernous sinus thrombosis |
| | Cecato De lima Pinheiro syndrome |
| | Celiac disease epilepsy occipital calcifications |
| | Central diabetes insipidus |
| | Central nervous system protozoal infections |
| | Central serous chorioretinopathy |
| | Central type neurofibromatosis |
| | Centromeric instability immunodeficiency syndrome |
| | Cerebellar ataxia areflexia pes cavus optic atrophy |
| | Cerebellar ataxia ectodermal dysplasia |
| | Cerebellar ataxia infantile with progressive external ophthalmoplegia |
| | Cerebellar ataxia, dominant pure |
| | Cerebellar degeneration, subacute |
| | Cerebellar hypoplasia endosteal sclerosis |
| | Cerebellar hypoplasia tapetoretinal degeneration |
| | Cerebellar parenchymal degeneration |
| | Cerebelloparenchymal disorder 3 |
| | Cerebellum agenesis hydrocephaly |
| | Cerebral Amyloid Angiopathy, Familial |
| | Cerebral amyloid angiopathy |
| | 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 malformations hypertrichosis claw hands |
| | 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 |
| | Cerebro-costo-mandibular syndrome |
| | Cerebro-oculo-facio-skeletal syndrome |
| | Cerebroarthrodigital syndrome |
| | Cerebroretinal vasculopathy |
| | Ceroid lipofuscinois, neuronal |
| | Ceroid lipofuscinois, neuronal 1, infantile |
| | Ceroid lipofuscinois, neuronal 2, late infantile |
| | Ceroid lipofuscinois, neuronal 3, juvenile |
| | Ceroid lipofuscinois, neuronal 4, adult type |
| | Ceroid lipofuscinois, neuronal 5, late infantile |
| | Ceroid lipofuscinois, neuronal 6, late infantile |
| | Ceroid lipofuscinosis, neuronal 4 |
| | Cervical hypertrichosis neuropathy |
| | Cervical hypertrichosis peripheral neuropathy |
| | Cervical ribs sprengel anomaly polydactyly |
| | Cervical vertebral fusion |
| | Cervicooculoacoustic syndrome |
| | Chanarin Dorfman syndrome ichthyosis |
| | Chang Davidson Carlson syndrome |
| | Chaotic atrial tachycardia |
| | Charcot Marie Tooth disease deafness recessive type |
| | Charcot Marie Tooth type 1 aplasia cutis congenita |
| | Charcot Marie tooth disease deafness dominant type |
| | Charcot Marie tooth disease deafness mental retardation |
| | Charcot-Marie-Tooth disease |
| | 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, X-linked type 2, recessive |
| | Charcot-Marie-Tooth disease, X-linked type 3, recessive |
| | 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 peroneal muscular atrophy, X-linked |
| | Chemke Oliver Mallek syndrome |
| | Chen Kung Ho Kaufman Mcalister syndrome |
| | Chiari type 1 malformation |
| | Childhood disintegrative disorder |
| | Childhood pustular psoriasis |
| | Chinese restaurant syndrome |
| | Chitayat Haj Chahine syndrome |
| | Chitayat Meunier Hodgkinson syndrome |
| | Chitayat Moore Del Bigio syndrome |
| | Chitty Hall Baraitser syndrome |
| | Chitty Hall Webb syndrome |
| | Chlamydial and Gonococcal Conjunctivitis |
| | Choanal atresia deafness cardiac defects dysmorphia |
| | Cholangitis, primary sclerosing |
| | Choledochal cyst, hand malformation |
| | Cholestasis pigmentary retinopathy cleft palate |
| | Cholestasis, progressive familial intrahepatic |
| | Cholestasis, progressive familial intrahepatic 1 |
| | Cholestasis, progressive familial intrahepatic 2 |
| | Cholestasis, progressive familial intrahepatic 3 |
| | Cholestatic jaundice renal tubular insufficiency |
| | Cholesterol ester storage disease |
| | Cholesterol esterification disorder |
| | Chondrocalcinosis familial articular |
| | Chondrodysplasia lethal recessive |
| | Chondrodysplasia pseudohermaphrodism syndrome |
| | Chondrodysplasia punctata |
| | Chondrodysplasia punctata 1, X-linked recessive |
| | Chondrodysplasia punctata with steroid sulfatase deficiency |
| | Chondrodysplasia punctata, Sheffield type |
| | Chondrodysplasia punctata, brachytelephalangic |
| | Chondrodysplasia situs inversus imperforate anus polydactyly |
| | Chondrodysplasia, Grebe type |
| | Chondroectodermal dysplasia |
| | Chondrosarcoma (malignant) |
| | Chondrysplasia punctata, humero-metacarpal type |
| | Choreoacanthocytosis amyotrophic |
| | Choreoathetosis familial paroxysmal |
| | Chorioretinopathy dominant form microcephaly |
| | Choroidal atrophy alopecia |
| | Choroideremia hypopituitarism |
| | Choroido cerebral calcification syndrome infantile |
| | Christian Demyer Franken syndrome |
| | Christian Johnson Angenieta syndrome |
| | Christianson Fourie syndrome |
| | Chromophobe renal carcinoma |
| | 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, 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 12, 12p trisomy |
| | Chromosome 12, trisomy 12q |
| | Chromosome 12p partial deletion |
| | Chromosome 13 duplication |
| | Chromosome 13, partial monosomy 13q |
| | Chromosome 13p duplication |
| | 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, distal trisomy 15q |
| | Chromosome 15, trisomy mosaicism |
| | Chromosome 15q, partial deletion |
| | Chromosome 15q, tetrasomy |
| | Chromosome 16, trisomy 16p |
| | Chromosome 16, trisomy 16q |
| | Chromosome 16, uniparental disomy |
| | 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, deletion 18q23 |
| | Chromosome 18, monosomy 18p |
| | Chromosome 18, tetrasomy 18p |
| | Chromosome 18, trisomy 18p |
| | Chromosome 18, trisomy 18q |
| | Chromosome 19, trisomy 19q |
| | Chromosome 1q, duplication 1q12 q21 |
| | Chromosome 2, Trisomy 2p13 p21 |
| | Chromosome 2, monosomy 2p22 |
| | Chromosome 2, monosomy 2pter p24 |
| | Chromosome 2, monosomy 2q |
| | Chromosome 2, monosomy 2q24 |
| | Chromosome 2, monosomy 2q37 |
| | Chromosome 2, trisomy 2pter p24 |
| | Chromosome 2, trisomy 2q37 |
| | Chromosome 20, deletion 20p |
| | Chromosome 20, duplication 20p |
| | Chromosome 21, monosomy 21q22 |
| | Chromosome 21, tetrasomy 21q |
| | Chromosome 21, uniparental disomy of |
| | Chromosome 22 trisomy mosaic |
| | Chromosome 22, microdeletion 22 q11 |
| | Chromosome 22, monosome mosaic |
| | Chromosome 22, trisomy q11 q13 |
| | Chromosome 3 duplication syndrome |
| | Chromosome 3, Trisomy 3q2 |
| | 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 3p25 |
| | Chromosome 3, trisomy 3q13 2 q25 |
| | 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 4q21 |
| | Chromosome 4, trisomy 4q25 qter |
| | Chromosome 5, monosomy 5q35 |
| | Chromosome 5, trisomy 5pter p13 3 |
| | Chromosome 5, uniparental disomy |
| | 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 7, monosomy 7q2 |
| | Chromosome 7, monosomy 7q21 |
| | Chromosome 7, monosomy 7q3 |
| | Chromosome 7, partial monosomy 7p |
| | Chromosome 7, trisomy 7p13 p12 2 |
| | Chromosome 7, trisomy mosaic |
| | 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 9 inversion or duplication |
| | 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 9q32 |
| | Chromosome 9, trisomy mosaic |
| | Chromosomes 1 and 2, monosomy 2q duplication 1p |
| | Chronic demyelinizing neuropathy with IgM monoclonal |
| | Chronic erosive gastritis |
| | Chronic fatigue immune dysfunction syndrome |
| | Chronic granulomatous disease |
| | Chronic inflammatory demyelinating polyneuropathy |
| | Chronic lymphocytic leukemia |
| | Chronic mountain sickness |
| | Chronic myelogenous leukemia |
| | Chronic myelomonocytic leukemia |
| | Chronic necrotizing vasculitis |
| | Chronic obstructive pulmonary disease |
| | Chronic polyradiculoneuritis |
| | Chronic recurrent multifocal osteomyelitis |
| | Chronic spasmodic dysphonia |
| | Chronic, infantile, neurological, cutaneous, articular syndrome |
| | Chudley Lowry Hoar syndrome |
| | Chudley Rozdilsky syndrome |
| | Chudley-Mccullough syndrome |
| | 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 |
| | Clayton Smith Donnai syndrome |
| | 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 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 upper lip median cutaneous polyps |
| | Clefting ectropion conical teeth |
| | Cleidocranial dysplasia micrognathia absent thumbs |
| | Cloverleaf skull bone dysplasia |
| | Cloverleaf skull micromelia thoracic dysplasia |
| | Coal worker's pneumoconiosis |
| | Coarctation of aorta dominant |
| | Coarse face hypotonia constipation |
| | Cocaine antenatal infection |
| | Coenzyme Q cytochrome c reductase deficiency of |
| | Cohen Lockood Wyborney syndrome |
| | Colavita Kozlowski syndrome |
| | Cold agglutination syndrome |
| | Cold antibody hemolytic anemia |
| | Coloboma chorioretinal cerebellar vermis aplasia |
| | Coloboma hair abnormality |
| | Coloboma of choroid and retina |
| | Coloboma of lens ala nasi |
| | Coloboma of macula type B brachydactyly |
| | Coloboma of optic papilla |
| | Coloboma porencephaly hydronephrosis |
| | Coloboma uveal with cleft lip palate and mental retardation |
| | Colobomata unilobar lung heart defect |
| | Colobomatous microphthalmia |
| | Colobomatous microphthalmia heart disease hearing |
| | Colon cancer, familial nonpolyposis |
| | Colver Steer Godman syndrome |
| | Combarros Calleja Leno syndrome |
| | Combined hyperlipidemia, familial |
| | Common variable immunodeficiency |
| | 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 |
| | Complex regional pain syndrome |
| | Conductive deafness malformed external ear |
| | Cone rod dystrophy amelogenesis imperfecta |
| | Congenital absence of the uterus and vagina |
| | Congenital adrenal hyperplasia |
| | 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 afibrinogenemia |
| | Congenital alopecia X linked |
| | 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 craniosynostosis maternal hyperthyroiditis |
| | Congenital cystic adenomatoid malformation |
| | Congenital cystic eye multiple ocular and intracranial anomalies |
| | Congenital cytomegalovirus |
| | Congenital diaphragmatic hernia |
| | Congenital erythropoietic porphyria |
| | Congenital facial diplegia |
| | Congenital fiber type disproportion |
| | Congenital gastrointestinal disorder |
| | Congenital generalized fibromatosis |
| | Congenital giant megaureter |
| | 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 ichtyosiform erythroderma |
| | Congenital insensitivity to pain with anhidrosis |
| | Congenital kidney disorder |
| | Congenital limb deficiency |
| | Congenital lobar emphysema |
| | Congenital mesoblastic nephroma |
| | Congenital microvillous atrophy |
| | Congenital mitral malformation |
| | Congenital mitral stenosis |
| | Congenital muscular dystrophy syringomyelia |
| | Congenital nephrotic syndrome |
| | Congenital nonhemolytic jaundice |
| | Congenital skeletal disorder |
| | Congenital spherocytic anemia |
| | Congenital spherocytic hemolytic anemia |
| | Congenital stenosis of cervical medullary canal |
| | Congenital sucrose isomaltose malabsorption |
| | Congenital unilateral pulmonary hypoplasia |
| | Congenital vagal hyperreflexivity |
| | Congenital varicella syndrome |
| | Conjunctivitis with Pseudomembrane |
| | Connective tissue dysplasia Spellacy type |
| | Conotruncal heart malformations |
| | Conradi-Hunermann 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 |
| | Convulsions benign familial neonatal |
| | Convulsions benign familial neonatal dominant form |
| | Copper deficiency familial benign |
| | 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 endothelium dystrophy |
| | Cornelia de Lange syndrome |
| | Corneodermatoosseous syndrome |
| | Coronal synostosis syndactyly jejunal atresia |
| | Coronary arteries congenital malformation |
| | 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 dysgenesis X linked recessive |
| | Corpus callosum dysgenesis cleft spasm |
| | Corpus callosum dysgenesis hypopituitarism |
| | Cortada Koussef Matsumoto syndrome |
| | Cortical blindness mental retardation polydactyly |
| | Cortical degeneration of the cerebellum parenchymatous |
| | Cortical hyperostosis syndactyly |
| | Corticobasal degeneration |
| | Costochondritis (otherwise Costal chondritis) |
| | Costocoracoid ligament congenitally short |
| | Cote Adamopoulos Pantelakis syndrome |
| | Cousin Walbraum Cegarra syndrome |
| | Cowchock Wapner Kurtz syndrome |
| | Cramer Niederdellmann syndrome |
| | Cramp-fasciculations syndrome |
| | 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 dysynostosis |
| | Craniofaciocardioskeletal syndrome |
| | Craniofaciocervical osteoglyphic dysplasia |
| | Craniofrontonasal dysplasia |
| | Craniofrontonasal syndrome Teebi type |
| | Craniometaphyseal dysplasia dominant type |
| | Craniometaphyseal dysplasia recessive type |
| | Craniomicromelic syndrome |
| | Craniostenosis with congenital heart disease mental retardation |
| | Craniosynostosis Fontaine type |
| | Craniosynostosis Maroteaux Fonfria type |
| | Craniosynostosis Philadelphia type |
| | Craniosynostosis Warman type |
| | 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 mental retardation clefting syndrome |
| | Craniosynostosis mental retardation heart defects |
| | Craniosynostosis radial aplasia syndrome |
| | Craniosynostosis synostoses hypertensive nephropathy |
| | Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus |
| | Craniotelencephalic dysplasia |
| | Creutzfeldt-Jakob disease |
| | Criswick-Schepens syndrome |
| | Crohn's disease of the esophagus |
| | Crossed polydactyly type 1 |
| | Crouzonodermoskeletal syndrome |
| | Cryptogenic organized pneumopathy |
| | Cryptomicrotia brachydactyly syndrome |
| | Cryptomicrotia brachydactyly syndrome excess fingers |
| | Cryptophthalmos-syndactyly syndrome |
| | Cryptorchidism arachnodactyly mental retardation |
| | Curly hair ankyloblepharon nail dysplasia syndrome |
| | Curth-Macklin type ichthyosis hystrix |
| | Curtis Rogers Stevenson syndrome |
| | Cushing syndrome, familial |
| | Cutaneous T-cell lymphoma |
| | Cutaneous lupus erythematosus |
| | Cutaneous photosensitivity colitis lethal |
| | Cutis Gyrata syndrome of Beare and Stevenson |
| | Cutis gyratum acanthosis nigricans craniosynostosis |
| | Cutis laxa corneal clouding mental retardation |
| | Cutis laxa with joint laxity and retarded development |
| | Cutis laxa, dominant type |
| | Cutis laxa, recessive type 1 |
| | Cutis laxa, recessive type 2 |
| | Cutis marmorata telangiectatica congenita |
| | Cutis verticis gyrata mental deficiency |
| | Cutis verticis gyrata thyroid aplasia mental retardation |
| | Cutler Bass Romshe syndrome |
| | Cypress facial neuromusculoskeletal syndrome |
| | Cystathionine beta synthetase deficiency |
| | Cystic adenomatoid malformation of lung |
| | Cystic angiomatosis of bone, diffuse |
| | Cystic fibrosis gastritis megaloblastic anemia |
| | Cystic hamartoma of lung and kidney |
| | Cystic hygroma lethal cleft palate |
| | Cystic medial necrosis of aorta |
| | Cystin transport, protein defect of |
| | Cytochrome C oxidase deficiency |
| | Cytomegalic inclusion disease |
| | Cytoplasmic body myopathy |
| |