This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/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
  • 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
  • Charles' Disease