|
C syndrome |
|
C-like syndrome |
|
CACH syndrome |
|
CADASIL |
|
Cafe au lait spots, multiple |
|
Caffey disease |
|
CAHMR syndrome |
|
Calabro syndrome |
|
Calcifying Epithelial Odontogenic Tumor |
|
Calciphylaxis |
|
Calloso-genital dysplasia |
|
Calvarial hyperostosis |
|
Camera Marugo Cohen syndrome |
|
CAMFAK syndrome |
|
Campomelia Cumming type |
|
Campomelic dysplasia |
|
Camptobrachydactyly |
|
Camptocormism |
|
Camptodactyly joint contractures and facial skeletal dysplasia
|
|
Camptodactyly syndrome Guadalajara type 1 |
|
Camptodactyly syndrome Guadalajara type 2 |
|
Camptodactyly taurinuria |
|
Camptodactyly vertebral fusion |
|
Camptodactyly, fibrous tissue hyperplasia, and skeletal
dysplasia |
|
Camptodactyly, tall stature, and hearing loss syndrome
|
|
Camptodactyly-ichthyosis syndrome |
|
Camptomelic syndrome long limb type |
|
Camurati Engelmann disease, type 2 |
|
Camurati-Engelmann disease |
|
Canavan disease |
|
Candidiasis familial chronic mucocutaneous, autosomal recessive
|
|
CANOMAD syndrome |
|
Cantalamessa Baldini Ambrosi syndrome |
|
Cantu Sanchez-Corona Fragoso syndrome |
|
Cantu Sanchez-Corona Garcia-cruz syndrome |
|
Cantu Sanchez-Corona Hernandez syndrome |
|
Cantu syndrome |
|
Capillary leak syndrome with monoclonal gammopathy |
|
Capillary venous leptomeningeal angiomatosis |
|
Carbamoyl phosphate synthase 1 deficiency |
|
Carbamoyl-phosphate synthase I deficiency disease (ornithine
carbamoyl phosphate deficiency) |
|
Carbon baby syndrome |
|
Carcinoid syndrome |
|
Carcinoid tumor |
|
Carcinoma of the vocal tract |
|
Carcinoma, squamous cell |
|
Carcinoma, squamous cell of head and neck |
|
Cardiac and laterality defects |
|
Cardiac conduction defect, familial |
|
Cardiac diverticulum |
|
Cardiac hydatid cysts with intracavitary expansion |
|
Cardiac valvular dysplasia, X-linked |
|
Cardioauditory syndrome of Sanchez- Cascos |
|
Cardiocranial syndrome |
|
Cardiofacial syndrome short limbs |
|
Cardiofaciocutaneous syndrome |
|
Cardiogenital syndrome |
|
Cardiomelic syndrome Stratton Koehler type |
|
Cardiomyopathy cataract hip spine disease |
|
Cardiomyopathy diabetes deafness |
|
Cardiomyopathy dilated with conduction defect type 1 |
|
Cardiomyopathy dilated with conduction defect type 2 |
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
|
Cardiomyopathy due to anthracyclines |
|
Cardiomyopathy hearing loss type t RNA lysine gene mutation
|
|
Cardiomyopathy hypogonadism collagenoma syndrome |
|
Cardiomyopathy hypogonadism metabolic anomalies |
|
Cardiomyopathy spherocytosis |
|
Cardiomyopathy, familial dilated |
|
Cardiomyopathy, fatal fetal, due to myocardial calcification
|
|
Cardiomyopathy, infantile histiocytoid |
|
Cardiomyopathy, X-linked, fatal infantile |
|
Cardioskeletal myopathy-neutropenia |
|
Cardiospasm |
|
Carnevale Canun Mendoza syndrome |
|
Carnevale Hernandez Castillo syndrome |
|
Carnevale Krajewska Fischetto syndrome |
|
Carney syndrome |
|
Carnitine palmitoyl transferase 1A deficiency |
|
Carnitine palmitoyl transferase 2 deficiency |
|
Carnitine transporter deficiency |
|
Carnitine-acylcarnitine translocase deficiency |
|
Carnosinase deficiency |
|
Carnosinemia |
|
Caroli disease |
|
Carpal deformity migrognathia microstomia |
|
Carpenter Hunter type |
|
Carpenter syndrome |
|
Carpo tarsal osteolysis recessive |
|
Carpotarsal osteochondromatosis |
|
Carrington syndrome |
|
Cartilage hair hypoplasia like syndrome |
|
Cartilage-hair hypoplasia |
|
Cartilaginous neoplasms |
|
Cartwright Nelson Fryns syndrome |
|
Caspase-8 deficiency |
|
Castro Gago Pombo Novo syndrome |
|
Cat Eye syndrome |
|
Cat Rodrigues syndrome |
|
Cat Scratch Disease |
|
Catamenial pneumothorax |
|
Cataplexy |
|
Cataract and cardiomyopathy |
|
Cataract and congenital ichthyosis |
|
Cataract anterior polar dominant |
|
Cataract ataxia deafness |
|
Cataract congenital autosomal dominant |
|
Cataract congenital dominant non nuclear |
|
Cataract congenital Volkmann type |
|
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, autosomal recessive congenital 2 |
|
Cataract, congenital, with microcornea or slight microphthalmia
|
|
Cataract, congenital, with microphthalmia |
|
Cataract, microphthalmia and nystagmus |
|
Cataract, total congenital |
|
Cataract, zonular |
|
Cataract-glaucoma |
|
Catastrophic Antiphospholipid Syndrome |
|
Catatrichy |
|
Catecholamine hypertension |
|
Catel Manzke syndrome |
|
Caudal appendage deafness |
|
Caudal duplication |
|
Caudal regression syndrome |
|
Cavernous lymphangioma |
|
Cayler cardiofacial syndrome |
|
CCA syndrome |
|
Ccge syndrome |
|
CD3 deficiency |
|
CD4 deficiency |
|
CDG syndrome type 1A |
|
CDG syndrome type 1B |
|
CDG syndrome type 1C |
|
CDG syndrome type 2 |
|
CDG syndrome type 3 |
|
CDG syndrome type 4 |
|
CDK4 linked melanoma |
|
Cecato De lima Pinheiro syndrome |
|
Celiac disease epilepsy occipital calcifications |
|
Cennamo Gangemi syndrome |
|
Central core disease |
|
Central nervous system lymphoma, primary |
|
Central nervous system protozoal infections |
|
Central pontine myelinolysis |
|
Central serous chorioretinopathy |
|
Centromeric instability immunodeficiency syndrome |
|
Centronuclear myopathy, congenital |
|
Centrotemporal epilepsy |
|
Cephalopolysyndactyly |
|
Ceramide trihexosidosis |
|
Cercarial Dermatitis |
|
Cerebellar agenesis |
|
Cerebellar ataxia |
|
Cerebellar ataxia ectodermal dysplasia |
|
Cerebellar ataxia infantile with progressive external
ophthalmoplegia |
|
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and
sensorinural hearing loss |
|
Cerebellar ataxia, dominant pure |
|
Cerebellar degeneration |
|
Cerebellar degeneration, subacute |
|
Cerebellar hypoplasia |
|
Cerebellar hypoplasia tapetoretinal degeneration |
|
Cerebellar hypoplasia with endosteal sclerosis |
|
Cerebellar parenchymal degeneration |
|
Cerebelloolivary atrophy |
|
Cerebelloparenchymal disorder 3 |
|
Cerebellum agenesis hydrocephaly |
|
Cerebral Amyloid Angiopathy, Familial |
|
Cerebral aneurysm |
|
Cerebral astrocytoma, adult |
|
Cerebral calcification cerebellar hypoplasia |
|
Cerebral calcifications opalescent teeth phosphaturia |
|
Cerebral cavernous hemangioma |
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar
keratoderma syndrome |
|
Cerebral gigantism jaw cysts |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
|
Cerebral palsy, spastic, diplegic |
|
Cerebral sarcoma |
|
Cerebral ventricle neoplasm |
|
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 |
|
Cerebroretinal vasculopathy |
|
Cerebrospinal fluid leak |
|
Cerebrotendinous xanthomatosis |
|
Ceroid lipofuscinosis, neuronal |
|
Ceroid lipofuscinosis, neuronal 1, infantile |
|
Ceroid lipofuscinosis, neuronal 2, late infantile type
|
|
Ceroid lipofuscinosis, neuronal 3, Juvenile |
|
Ceroid lipofuscinosis, neuronal 4 |
|
Ceroid lipofuscinosis, neuronal 5 |
|
Ceroid lipofuscinosis, neuronal 6, late infantile |
|
Ceroid lipofuscinosis, neuronal 8 |
|
Ceroid lipofuscinosis, neuronal 9 |
|
Ceroid storage disease |
|
Cerulean cataract |
|
Cervical hypertrichosis neuropathy |
|
Cervical hypertrichosis peripheral neuropathy |
|
Cervical intraepithelial neoplasia |
|
Cervical ribs sprengel anomaly anal atresia urethral
obstruction |
|
Cervical vertebral fusion |
|
Cervicooculoacoustic syndrome |
|
Chagas disease |
|
Chalazion |
|
Chancroid |
|
Chandler's syndrome |
|
CHANDS |
|
Chang Davidson Carlson syndrome |
|
Chaotic atrial tachycardia |
|
Char syndrome |
|
Charcot Marie Tooth disease |
|
Charcot Marie Tooth disease deafness recessive type |
|
Charcot Marie Tooth type 1 aplasia cutis congenita |
|
Charcot-Marie-Tooth disease and deafness |
|
Charcot-Marie-Tooth disease with ptosis and parkinsonism
|
|
Charcot-Marie-Tooth disease with pyramidal features, autosomal
dominant |
|
Charcot-Marie-Tooth disease, dominant intermediate 1
|
|
Charcot-Marie-Tooth disease, dominant intermediate 2
|
|
Charcot-Marie-Tooth disease, dominant intermediate 3
|
|
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, Type 1A |
|
Charcot-Marie-Tooth disease, Type 1B |
|
Charcot-Marie-Tooth disease, Type 1C |
|
Charcot-Marie-Tooth disease, Type 1D |
|
Charcot-Marie-Tooth disease, Type 1E |
|
Charcot-Marie-Tooth disease, Type 1F |
|
Charcot-Marie-Tooth disease, Type 2A |
|
Charcot-Marie-Tooth disease, Type 2B |
|
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 2E |
|
Charcot-Marie-Tooth disease, Type 2F |
|
Charcot-Marie-Tooth disease, Type 2G |
|
Charcot-Marie-Tooth disease, Type 2H |
|
Charcot-Marie-Tooth disease, Type 2I |
|
Charcot-Marie-Tooth disease, Type 2J |
|
Charcot-Marie-Tooth disease, Type 2K |
|
Charcot-Marie-Tooth disease, Type 4A |
|
Charcot-Marie-Tooth disease, Type 4B1 |
|
Charcot-Marie-Tooth disease, Type 4B2 |
|
Charcot-Marie-Tooth disease, Type 4B2, with early-onset
glaucoma |
|
Charcot-Marie-Tooth disease, Type 4C |
|
Charcot-Marie-Tooth disease, Type 4E |
|
Charcot-Marie-Tooth disease, X-linked recessive, 2 |
|
Charcot-Marie-Tooth disease, X-linked recessive, 3 |
|
Charcot-Marie-Tooth disease, X-linked, 1 |
|
CHARGE syndrome |
|
Charlie M syndrome |
|
Chavany-Brunhes syndrome |
|
Chediak-Higashi syndrome |
|
Cheilitis glandularis |
|
Chemke Oliver Mallek syndrome |
|
Cherubism |
|
Chiari-Frommel syndrome |
|
Chicken pox |
|
Chikungunya |
|
Chilblain lupus |
|
CHILD syndrome ichthyosis |
|
Childhood disintegrative disorder |
|
Childhood-onset cerebral X-linked adrenoleukodystrophy |
|
Childhood-Onset Schizophrenia |
|
Chitayat Haj Chahine syndrome |
|
Chitayat Meunier Hodgkinson syndrome |
|
Chitayat Moore Del Bigio syndrome |
|
Chitty Hall Baraitser syndrome |
|
Chitty Hall Webb syndrome |
|
Choanal atresia deafness cardiac defects dysmorphia |
|
Cholecystitis |
|
Choledochal cyst, hand malformation |
|
Cholemia, familial |
|
Cholera |
|
Cholestasis |
|
Cholestasis pigmentary retinopathy cleft palate |
|
Cholestasis, benign recurrent intrahepatic 1 |
|
Cholestasis, benign recurrent intrahepatic 2 |
|
Cholestasis, intrahepatic of pregnancy |
|
Cholestasis, progressive familial intrahepatic 1 |
|
Cholestasis, progressive familial intrahepatic 2 |
|
Cholestasis, progressive familial intrahepatic 3 |
|
Cholestasis, progressive familial intrahepatic 4 |
|
Cholestatic jaundice renal tubular insufficiency |
|
Cholesterol esterification disorder |
|
Cholesterol pneumonia |
|
Chondroblastoma (benign) |
|
Chondrocalcinosis 1 |
|
Chondrocalcinosis 2 |
|
Chondrocalcinosis due to Apatite crystal deposition
|
|
Chondrodysplasia |
|
Chondrodysplasia lethal recessive |
|
Chondrodysplasia pseudohermaphrodism syndrome |
|
Chondrodysplasia punctata |
|
Chondrodysplasia punctata with steroid sulfatase deficiency
|
|
Chondrodysplasia punctata, brachytelephalangic |
|
Chondrodysplasia punctata, humero-metacarpal type |
|
Chondrodysplasia punctata, Sheffield type |
|
Chondrodysplasia situs inversus imperforate anus polydactyly
|
|
Chondrodysplasia, acromesomelic, with genital anomalies
|
|
Chondrodysplasia, blomstrand type |
|
Chondrodysplasia, Grebe type |
|
Chondrodystrophy |
|
Chondroectodermal dysplasia |
|
Chondroma (benign) |
|
Chondromalacia |
|
Chondromatosis (benign) |
|
Chondrosarcoma |
|
Chordoma |
|
Chorea familial benign |
|
Chorea minor |
|
Chorea, remitting with nystagmus and cataracts |
|
Choreoacanthocytosis |
|
Choreoacanthocytosis amyotrophic |
|
Choriocarcinoma |
|
Chorioretinal atrophy, progressive bifocal |
|
Chorioretinitis |
|
Chorioretinopathy dominant form microcephaly |
|
Choroid plexus calcification with mental retardation
|
|
Choroid plexus cyst |
|
Choroid Plexus neoplasms |
|
Choroidal dystrophy central areolar |
|
Choroideremia |
|
Choroideremia hypopituitarism |
|
Choroiditis |
|
Choroiditis, serpiginous |
|
Christian Demyer Franken syndrome |
|
Christian Johnson Angenieta syndrome |
|
Christian syndrome |
|
Chromomycosis |
|
Chromophil renal cell carcinoma |
|
Chromophobe renal cell carcinoma |
|
Chromosomal abnormalities |
|
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, 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 ring |
|
Chromosome 13, partial monosomy 13q |
|
Chromosome 13p duplication |
|
Chromosome 13q deletion |
|
Chromosome 13q trisomy |
|
Chromosome 13q-mosaicism |
|
Chromosome 14 deletion |
|
Chromosome 14 ring |
|
Chromosome 14 trisomy |
|
Chromosome 14, deletion 14q, partial duplication 14p |
|
Chromosome 14, trisomy mosaic |
|
Chromosome 14;16 translocation |
|
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 duplication mosaicism |
|
Chromosome 15q, partial deletion |
|
Chromosome 15q, tetrasomy |
|
Chromosome 15q, trisomy |
|
Chromosome 16, trisomy |
|
Chromosome 16, trisomy 16p |
|
Chromosome 16, trisomy 16q |
|
Chromosome 16, uniparental disomy |
|
Chromosome 17 trisomy |
|
Chromosome 17 deletion |
|
Chromosome 17 ring |
|
Chromosome 17, deletion 17q23 q24 |
|
Chromosome 17, duplication |
|
Chromosome 17, trisomy 17p |
|
Chromosome 17, trisomy 17p11 2 |
|
Chromosome 17, trisomy 17q22 |
|
Chromosome 18 deletion syndrome |
|
Chromosome 18 mosaic monosomy |
|
Chromosome 18 ring |
|
Chromosome 18, deletion 18q23 |
|
Chromosome 18, tetrasomy 18p |
|
Chromosome 18, trisomy 18p |
|
Chromosome 18, trisomy 18q |
|
Chromosome 18p deletion syndrome |
|
Chromosome 19 ring |
|
Chromosome 19 ring syndrome |
|
Chromosome 19, trisomy 19q |
|
Chromosome 1q deletion |
|
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 |
|
Chromosome 22, trisomy q11 q13 |
|
Chromosome 22q deletion |
|
Chromosome 22q13.3 deletion syndrome |
|
Chromosome 2q37 deletion syndrome |
|
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 syndrome |
|
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 syndrome |
|
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 syndrome |
|
Chromosome 7, monosomy |
|
Chromosome 7, monosomy 7q2 |
|
Chromosome 7, monosomy 7q21 |
|
Chromosome 7, monosomy 7q3 |
|
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 |
|
Chromosome 8, trisomy 8p |
|
Chromosome 8, trisomy 8q |
|
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 |
|
Chromosome 9, trisomy 9p |
|
Chromosome 9, trisomy 9q |
|
Chromosome 9, trisomy 9q32 |
|
Chromosome 9, trisomy mosaic |
|
Chromosome 9q deletion syndrome |
|
Chromosome 9q duplication |
|
Chromosomes 1 and 2, monosomy 2q duplication 1p |
|
Chronic berylliosis |
|
Chronic demyelinizing neuropathy with IgM monoclonal |
|
Chronic erosive gastritis |
|
Chronic granulomatous disease |
|
Chronic hiccup |
|
Chronic inflammatory demyelinating polyneuropathy |
|
Chronic lymphocytic leukemia |
|
Chronic myelogenous leukemia |
|
Chronic myelomonocytic leukemia |
|
Chronic Myeloproliferative Disorders |
|
Chronic necrotizing vasculitis |
|
Chronic neutropenia |
|
Chronic polyradiculoneuritis |
|
Chronic recurrent multifocal osteomyelitis |
|
Chronic, infantile, neurological, cutaneous, articular syndrome
|
|
Chudley Lowry Hoar syndrome |
|
Chudley Rozdilsky syndrome |
|
Chudley-Mccullough syndrome |
|
Churg-Strauss syndrome |
|
Chylomicron retention disease with Marinesco-Sjogren syndrome
|
|
Chylothorax, congenital |
|
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 |
|
Citrin deficiency |
|
Citrulline transport defect |
|
Clark-Baraitser syndrome |
|
Clayton-Smith Donnai syndrome |
|
Clear cell renal cell carcinoma |
|
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 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, midfacial hypoplasia, triangular facies, and
sensorineural hearing loss |
|
Cleft tongue syndrome |
|
Cleft upper lip median cutaneous polyps |
|
Cleidocranial dysplasia |
|
Cleidorhizomelic syndrome |
|
Cloacal exstrophy |
|
Clostridium sordellii |
|
Cloverleaf skull micromelia thoracic dysplasia |
|
Cluttering |
|
CMV antenatal infection |
|
COACH syndrome |
|
Coal worker's pneumoconiosis |
|
Coarctation of aorta dominant |
|
Coarse face hypotonia constipation |
|
Coats disease |
|
Cocaine antenatal infection |
|
Cocaine fetopathy |
|
Coccidioidomycosis |
|
Cochleosaccular degeneration of the inner ear and progressive
cataracts |
|
Cockayne syndrome type C |
|
Cockayne syndrome, type A |
|
Cockayne syndrome, type B |
|
Cockayne's syndrome |
|
CODAS syndrome |
|
Coenzyme Q cytochrome c reductase deficiency of |
|
Coffin syndrome 1 |
|
Coffin-Lowry syndrome |
|
Coffin-Siris syndrome |
|
COFS syndrome |
|
Cogan's syndrome |
|
Cogan-Reese syndrome |
|
Cohen Hayden syndrome |
|
Cohen Lockood Wyborney syndrome |
|
Cohen syndrome |
|
Colavita Kozlowski syndrome |
|
Cold agglutination syndrome |
|
Cold agglutinin disease |
|
Cold contact urticaria |
|
Cole Carpenter syndrome |
|
Coleman Randall syndrome |
|
Collagenopathy, type 2 alpha 1 |
|
Collagenous colitis |
|
Collecting duct carcinoma |
|
Collins Pope syndrome |
|
Collins Sakati syndrome |
|
Colloid cysts of third ventricle |
|
Coloboma chorioretinal cerebellar vermis aplasia |
|
Coloboma hair abnormality |
|
Coloboma of Alar-nasal cartilages with telecanthus |
|
Coloboma of choroid and retina |
|
Coloboma of eye lens |
|
Coloboma of iris |
|
Coloboma of lens ala nasi |
|
Coloboma of macula |
|
Coloboma of macula type B brachydactyly |
|
Coloboma of optic nerve |
|
Coloboma of optic papilla |
|
Coloboma porencephaly hydronephrosis |
|
Coloboma, cleft lip/palate and mental retardation syndrome
|
|
Colobomata unilobar lung heart defect |
|
Colobomatous microphthalmia heart disease hearing |
|
Colonic atresia |
|
Colonic malakoplakia |
|
Colorectal cancer, hereditary nonpolyposis, type 1 |
|
Colpocephaly |
|
Colver Steer Godman syndrome |
|
Combarros Calleja Leno syndrome |
|
Combined hyperlipidemia, familial |
|
Common mesentery |
|
Common variable immunodeficiency |
|
Compartment syndrome |
|
Complement component 2 deficiency |
|
Complement component deficiency |
|
Complement component receptor 1 |
|
Complement receptor deficiency |
|
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 |
|
Condyloma acuminatum |
|
Cone dystrophy |
|
Cone dystrophy, x-linked, with tapetal-like sheen |
|
Cone rod dystrophy |
|
Cone rod dystrophy amelogenesis imperfecta |
|
Congenital absence of the sternocleidomastoid muscle
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
ype 3 |
|
Congenital adrenal hyperplasia type 2 |
|
Congenital afibrinogenemia |
|
Congenital alopecia X-linked |
|
Congenital amegakaryocytic thrombocytopenia |
|
Congenital amputation |
|
Congenital aneurysms of the great vessels |
|
Congenital anosmia |
|
Congenital antithrombin 3 deficiency |
|
Congenital aplastic anemia |
|
Congenital arteriovenous shunt |
|
Congenital articular rigidity |
|
Congenital benign spinal muscular atrophy dominant |
|
Congenital bilateral aplasia of vas deferens |
|
Congenital bronchobiliary fistula |
|
Congenital cardiovascular malformations |
|
Congenital cardiovascular shunt |
|
Congenital chloride diarrhea |
|
Congenital contractures |
|
Congenital craniosynostosis maternal hyperthyroiditis |
|
Congenital cystic eye multiple ocular and intracranial anomalies
|
|
Congenital cytomegalovirus |
|
Congenital deafness |
|
Congenital diaphragmatic hernia |
|
Congenital dislocation of the patella |
|
Congenital disorder of glycosylation type 1A |
|
Congenital disorder of glycosylation type 1B |
|
Congenital disorder of glycosylation type 1C |
|
Congenital disorder of glycosylation type 1D |
|
Congenital disorder of glycosylation type 1E |
|
Congenital disorder of glycosylation type 1F |
|
Congenital disorder of glycosylation type 1G |
|
Congenital disorder of glycosylation type 1H |
|
Congenital disorder of glycosylation type 1I |
|
Congenital disorder of glycosylation type 1J |
|
Congenital disorder of glycosylation type 1K |
|
Congenital disorder of glycosylation type 1L |
|
Congenital disorder of glycosylation type 1X |
|
Congenital disorder of glycosylation type 2A |
|
Congenital disorder of glycosylation type 2D |
|
Congenital disorder of glycosylation type 2E |
|
Congenital disorder of glycosylation, type 2C |
|
Congenital disorder of glycosylation, type Id |
|
Congenital ectodermal dysplasia with hearing loss |
|
Congenital generalized fibromatosis |
|
Congenital generalized lipodystrophy type 1 |
|
Congenital generalized lipodystrophy type 2 |
|
Congenital giant megaureter |
|
Congenital heart block |
|
Congenital heart disease ptosis hypodontia craniostosis |
|
Congenital heart disease radio ulnar synostosis mental retardation
|
|
Congenital heart septum defect |
|
Congenital hemidysplasia with ichtyosiform erythroderma and limbs
defects |
|
Congenital hemolytic anemia |
|
Congenital hepatic fibrosis |
|
Congenital herpes simplex |
|
Congenital hypomyelination neuropathy |
|
Congenital hypothyroidism |
|
Congenital hypotrichosis milia |
|
Congenital ichthyosis, microcephalus, quadriplegia |
|
Congenital ichtyosiform erythroderma |
|
Congenital megacolon |
|
Congenital megalo-ureter |
|
Congenital mesoblastic nephroma |
|
Congenital microvillous atrophy |
|
Congenital mitral malformation |
|
Congenital mitral stenosis |
|
Congenital mixovirus |
|
Congenital mumps |
|
Congenital Muscular dystrophy |
|
Congenital muscular dystrophy syringomyelia |
|
Congenital myasthenic syndrome with episodic apnea |
|
Congenital myopathy |
|
Congenital myotonic dystrophy |
|
Congenital nephrotic syndrome, Finnish type |
|
Congenital nonhemolytic jaundice |
|
Congenital pseudoarthrosis |
|
Congenital short bowel |
|
Congenital short femur |
|
Congenital spherocytic anemia |
|
Congenital spherocytic hemolytic anemia |
|
Congenital stenosis of cervical medullary canal |
|
Congenital sucrose isomaltose malabsorption |
|
Congenital thrombotic disease, due to Protein C deficiency
|
|
Congenital torticollis |
|
Congenital unilateral pulmonary hypoplasia |
|
Congenital vagal hyperreflexivity |
|
Congenital varicella syndrome |
|
Congenitally corrected transposition of the great arteries
|
|
Conjunctivitis ligneous |
|
Conjunctivitis with Pseudomembrane |
|
Conn's syndrome |
|
Connective tissue dysplasia Spellacy type |
|
Connexin 26 anomaly |
|
Conorenal Syndrome |
|
Conotruncal heart malformations |
|
Conradi-Hunermann syndrome |
|
Constrictive bronchiolitis |
|
Continuous muscle fiber activity hereditary |
|
Continuous spike-wave during slow sleep syndrome |
|
Contractures ectodermal dysplasia cleft lip palate |
|
Conversion disorder |
|
Convulsions benign familial neonatal dominant form |
|
Convulsions, benign familial infantile, 1 |
|
Copper deficiency, familial benign |
|
Coproporphyria |
|
Cor biloculare |
|
Cor triatriatum |
|
Cormier Rustin Munnich syndrome |
|
Cornea guttata with anterior polar cataract |
|
Corneal anesthesia deafness mental retardation |
|
Corneal cerebellar syndrome |
|
Corneal crystals myopathy neuropathy |
|
Corneal dystrophy |
|
Corneal dystrophy and perceptive deafness |
|
Corneal dystrophy Avellino type |
|
Corneal dystrophy crystalline of Schnyder |
|
Corneal dystrophy ichthyosis microcephaly mental retardation
|
|
Corneal dystrophy of Bowman layer, type 1 |
|
Corneal dystrophy pigmentary anomaly malabsorption |
|
Corneal dystrophy, epithelial basement membrane |
|
Corneal dystrophy, Fuchs' endothelial, 1 |
|
Corneal dystrophy, Fuchs' endothelial, 2 |
|
Corneal dystrophy, gelatinous drop-like |
|
Corneal dystrophy, juvenile epithelial of Meesmann |
|
Corneal dystrophy, Thiel-Behnke type |
|
Corneal endothelial dystrophy type 2 |
|
Corneal hypesthesia, familial |
|
Cornelia de Lange syndrome 1 |
|
Cornelia de Lange syndrome 2 |
|
Cornelia de Lange syndrome 3 |
|
Corneodermatoosseous syndrome |
|
Coronal synostosis, syndactyly and jejunal atresia |
|
Coronaro-cardiac fistula |
|
Coronary arteries congenital malformation |
|
Coronary artery aneurysm |
|
Corpus callosum agenesis |
|
Corpus callosum agenesis double urinary collecting |
|
Corpus callosum agenesis neuronopathy |
|
Corpus callosum agenesis of blepharophimosis Robin type |
|
Corpus callosum agenesis polysyndactyly |
|
Corpus callosum dysgenesis cleft spasm |
|
Corpus callosum dysgenesis hypopituitarism |
|
Corpus callosum dysgenesis X-linked recessive |
|
Corsello Opitz syndrome |
|
Cortada Koussef Matsumoto syndrome |
|
Cortes Lacassie syndrome |
|
Cortical blindness mental retardation polydactyly |
|
Cortical hyperostosis syndactyly |
|
Corticobasal degeneration |
|
Cortisone reductase deficiency |
|
Costello syndrome |
|
Costocoracoid ligament congenitally short |
|
Cote Katsantoni syndrome |
|
Cousin Walbraum Cegarra syndrome |
|
Covesdem syndrome |
|
Cowchock syndrome |
|
Cowden's disease |
|
Coxa vara, congenital |
|
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 skeletal defects |
|
Craniofacial deafness hand syndrome |
|
Craniofacial dysostosis arthrogryposis progeroid appearence
|
|
Craniofacial dysostosis type 1 |
|
Craniofacial dyssynostosis |
|
Craniofaciocardioskeletal syndrome |
|
Craniofaciocervical osteoglyphic dysplasia |
|
Craniofrontonasal dysplasia |
|
Craniofrontonasal syndrome Teebi type |
|
Craniometaphyseal dysplasia dominant type |
|
Craniometaphyseal dysplasia, autosomal recessive type
|
|
Craniomicromelic syndrome |
|
Craniostenosis cataract |
|
Craniostenosis with congenital heart disease mental retardation
|
|
Craniosynostosis |
|
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, anal anomalies, and porokeratosis
|
|
Craniosynostosis, sagittal, with Dandy-Walker malformation and
hydrocephalus |
|
Craniotelencephalic dysplasia |
|
Crawfurd syndrome |
|
Creatine deficiency, X-linked |
|
Creeping disease |
|
CREST syndrome |
|
Cretinism |
|
Cretinism athyreotic |
|
Creutzfeldt Jakob disease |
|
Cri du chat syndrome |
|
Crigler Najjar syndrome, type 1 |
|
Crigler Najjar syndrome, type 2 |
|
Crisponi syndrome |
|
Crohn's disease of the esophagus |
|
Crohn’s disease, pediatric |
|
Crome syndrome |
|
Cronkhite-Canada disease |
|
Crossed polydactyly type 1 |
|
Crossed polysyndactyly |
|
Crumpled helices and small mouth |
|
Cryofibrinogenemia |
|
Cryptococcosis |
|
Cryptogenic organized pneumopathy |
|
Cryptomicrotia brachydactyly syndrome |
|
Cryptorchidism arachnodactyly mental retardation |
|
Cryptosporidiosis |
|
Crystal deposit disease |
|
Culler Jones syndrome |
|
Curly hair ankyloblepharon nail dysplasia syndrome |
|
Curly hair-acral keratoderma-caries syndrome |
|
Currarino triad |
|
Curry Hall syndrome |
|
Curtis Rogers Stevenson syndrome |
|
Cushing syndrome, familial |
|
Cushing's symphalangism |
|
Cutaneous anthrax |
|
Cutaneous larva migrans |
|
Cutaneous lupus erythematosus |
|
Cutaneous photosensitivity and colitis, lethal |
|
Cutaneous T-cell lymphoma |
|
Cutaneous vascularitis |
|
Cutis Gyrata syndrome of Beare and Stevenson |
|
Cutis gyratum acanthosis nigricans craniosynostosis |
|
Cutis laxa |
|
Cutis laxa corneal clouding mental retardation |
|
Cutis laxa osteoporosis |
|
Cutis laxa with joint laxity and retarded development |
|
Cutis laxa, dominant type |
|
Cutis laxa, recessive |
|
Cutis laxa, recessive type 2 |
|
Cutis marmorata telangiectatica congenita |
|
Cutis verticis gyrata |
|
Cutis verticis gyrata mental deficiency |
|
Cutler Bass Romshe syndrome |
|
Cyclic neutropenia |
|
Cyclic vomiting syndrome |
|
Cyclosporiasis |
|
Cyclosporosis |
|
Cyprus facial neuromusculoskeletal syndrome |
|
Cystic adenomatoid malformation of lung |
|
Cystic angiomatosis of bone, diffuse |
|
Cystic fibrosis |
|
Cystic fibrosis gastritis megaloblastic anemia |
|
Cystic hamartoma of lung and kidney |
|
Cystic hygroma |
|
Cystic hygroma lethal cleft palate |
|
Cystic medial necrosis of aorta |
|
Cysticercosis |
|
Cystin transport, protein defect of |
|
Cystinosis |
|
Cystinosis, ocular nonnephropathic |
|
Cystinuria |
|
Cystinuria-lysinuria |
|
Cystosarcoma phyllodes |
|
Cytochrome C oxidase deficiency |
|
Cytokine deficiency |
|
Cytokine receptor deficiency |
|
Cytomegalic inclusion disease |
|
Cytomegalovirus |
|
Cytomegalovirus retinitis |
|
Cytoplasmic body myopathy |
|
Czeizel Losonci syndrome |
|
Czeizel syndrome |
