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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With C

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* C syndrome
* C. perfringens infection - See Clostridium perfringens infection
* C. sordellii infection - See Clostridium sordellii infection
* C5 deficiency - See Leiner disease
* C8 alpha-gamma deficiency - See Complement component 8 deficiency type 1
* C8 beta deficiency - See Complement component 8 deficiency type 2
* C8 deficiency type I - See Complement component 8 deficiency type 1
* C8 deficiency type II - See Complement component 8 deficiency type 2
* C81 deficiency - See Complement component 8 deficiency type 1
* CAA - See Amyloidosis cerebral
* Cacchi Ricci disease - See Medullary sponge kidney
* Cacchi-Ricci syndrome - See Medullary sponge kidney
* CACH syndrome - See Leukoencephalopathy with vanishing white matter
* CACH/VWM syndrome - See Leukoencephalopathy with vanishing white matter
* CAD - See Cold agglutinin disease
* CADASIL
* CAEBV infection - See Chronic active Epstein-Barr virus infection
* Cafe au lait spots, multiple
* Cafe-au-lait spots with pulmonic stenosis - See Watson syndrome
* Caffey disease
* CAH - See Congenital adrenal hyperplasia
* CAHMR syndrome
* CAID syndrome
* CAIS - See Complete androgen insensitivity syndrome
* Calabro syndrome
* Calcaneonavicular coalition - See Synostoses, tarsal, carpal, and digital
* Calcification of joints and arteries; CALJA - See ACDC
* Calcifying Epithelial Odontogenic Tumor
* Calcifying epithelioma of Malherbe - See Pilomatrixoma
* Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia syndrome - See Limited scleroderma
* Calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia - See Limited scleroderma
* Calciphylaxis
* Calcium gout - See Chondrocalcinosis 2
* Calcium gout, familial - See Chondrocalcinosis 2
* Calcium pyrophosphate arthropathy - See Chondrocalcinosis 2
* Calcium pyrophosphate arthropathy, familial - See Chondrocalcinosis 2
* Calcium pyrophosphate dihydrate deposition disease - See Chondrocalcinosis 2
* Calderon Gonzalez-Cantu syndrome - See Hair defect with photosensitivity and mental retardation
* California encephalitis
* Calloso-genital dysplasia
* Calpainopathy - See Limb-girdle muscular dystrophy, type 2A
* Calvarial hyperostosis
* Camera Lituania Cohen syndrome - See Genoa syndrome
* Camera Marugo Cohen syndrome
* CAMFAK syndrome - See Cataract-microcephaly-failure to thrive-kyphoscoliosis
* CAMOS - See Spinocerebellar ataxia autosomal recessive 5
* Campomelia Cumming type
* Campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys - See Campomelia Cumming type
* Campomelic dysplasia
* Campomelic dysplasia, mild - See Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
* Campomelic syndrome long limb type - See Camptomelic syndrome long limb type
* Camptobrachydactyly
* Camptocormia - See Camptocormism
* Camptocormism
* Camptodactyly and sacral vertebral fusion (subtype) - See Camptodactyly vertebral fusion
* Camptodactyly arthropathy coxa vara pericarditis syndrome
* Camptodactyly arthropathy pericarditis syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
* Camptodactyly ichthyosis syndrome - See Camptodactyly-ichthyosis syndrome
* Camptodactyly joint contractures and facial skeletal dysplasia
* Camptodactyly syndrome Guadalajara type 1
* Camptodactyly syndrome Guadalajara type 2
* Camptodactyly syndrome Guadalajara type 3
* Camptodactyly taurinuria
* Camptodactyly vertebral fusion
* Camptodactyly with cervical platyspondyly - See Spondylocamptodactyly
* Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases - See Tel Hashomer camptodactyly syndrome
* Camptodactyly with Taurinuria - See Camptodactyly taurinuria
* Camptodactyly, cleft palate, and clubfoot - See Gordon syndrome
* Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
* Camptodactyly, joint contractures, facial skeletal defects - See Rozin Hertz Goodman syndrome
* Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye - See Rozin Hertz Goodman syndrome
* Camptodactyly, tall stature, and hearing loss syndrome
* Camptodactyly-arthropathy-coxa vara-pericarditis syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
* Camptodactyly-ichthyosis syndrome
* Camptomelic syndrome long limb type
* CAMT - See Congenital amegakaryocytic thrombocytopenia
* Camurati Engelmann disease, type 2
* Camurati-Engelmann disease
* Canale-Smith syndrome - See Autoimmune lymphoproliferative syndrome
* Canaliculitis - See Actinomycosis
* Canavan disease
* Canavan-van Bogaert-Bertrand disease - See Canavan disease
* Cancer of the anus - See Anal cancer
* Cancer of the fallopian tube - See Fallopian tube cancer
* Cancer of the oropharynx - See Oropharyngeal cancer, adult
* Cancer of the pancreas - See Pancreatic cancer
* Cancer of the testes - See Testicular cancer
* Cancer pancreas - See Pancreatic cancer
* Cancer penis - See Penile cancer, adult
* Cancers of the supraglottic larynx region - See Supraglottic laryngeal cancer
* Cancrum oris - See Noma
* Candida glabrata
* Candidiasis familial chronic mucocutaneous, autosomal recessive
* CANDLE syndrome - See Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
* Cane-cutter fever - See Leptospirosis
* Canicola fever - See Leptospirosis
* CANOMAD syndrome
* Cantalamessa Baldini Ambrosi syndrome
* Cantrell deformity - See Pentalogy of Cantrell
* Cantrell Haller Ravitsch syndrome - See Pentalogy of Cantrell
* Cantrell pentalogy - See Pentalogy of Cantrell
* Cantrell syndrome - See Pentalogy of Cantrell
* Cantu Sanchez-Corona Fragoso syndrome
* Cantu Sanchez-Corona Garcia-Cruz syndrome
* Cantu Sanchez-Corona Hernandez syndrome
* Cantu syndrome
* CAP - See Cataract anterior polar dominant
* Cap disease - See Cap myopathy
* Cap myopathy
* CAPA - See Episodic ataxia with nystagmus
* Capdepont teeth - See Dentinogenesis imperfecta 1
* CAPED - See North Carolina macular dystrophy
* Capillary hemangioblastoma
* Capillary leak syndrome - See Systemic capillary leak syndrome
* Capillary leak syndrome with monoclonal gammopathy - See Systemic capillary leak syndrome
* Capillary malformation-arteriovenous malformation syndrome
* Capillary venous leptomeningeal angiomatosis - See Angiomatosis, leptomeningeal capillary venous
* CAPOS - See Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
* CAPOS syndrome - See Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
* CAPS - See Cryopyrin-associated periodic syndrome
* CAR - See Carney complex
* CARASIL - See Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
* Carate - See Pinta
* Carbamoyl phosphate synthetase 1 deficiency
* Carbamyl phosphate synthetase (CPS) deficiency - See Carbamoyl phosphate synthetase 1 deficiency
* Carbohydrate inducible hyperlipemia - See Hyperlipoproteinemia type 4
* Carbohydrate intolerance of glucose galactose - See Glucose-galactose malabsorption
* Carbohydrate-deficient glycoprotein syndrome type 1A - See Congenital disorder of glycosylation type 1A
* Carbohydrate-deficient glycoprotein syndrome type 1A (formerly) - See Congenital disorder of glycosylation type 1A
* Carbohydrate-deficient glycoprotein syndrome type 1B - See Congenital disorder of glycosylation type 1B
* Carbohydrate-deficient glycoprotein syndrome type 1C - See Congenital disorder of glycosylation type 1C
* Carbohydrate-deficient glycoprotein syndrome type 1E - See Congenital disorder of glycosylation type 1E
* Carbohydrate-deficient glycoprotein syndrome type 1F - See Congenital disorder of glycosylation type 1F
* Carbohydrate-deficient glycoprotein syndrome type 1I - See Congenital disorder of glycosylation type 1I
* Carbohydrate-deficient glycoprotein syndrome type 2 - See Congenital disorder of glycosylation type 2A
* Carbohydrate-deficient glycoprotein syndrome type IV (formerly) - See Congenital disorder of glycosylation type 1D
* Carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly) - See Congenital disorder of glycosylation type 1C
* Carbohydrate-deficient glycoprotein syndrome, type V (formerly) - See Congenital disorder of glycosylation type 1C
* Carbohydrate-deficient glycoprotein syndromes - See Congenital disorders of glycosylation
* Carbon baby syndrome
* Carbon Pneumoconiosis - See Graphite Pneumoconiosis
* Carbonic anhydrase 2 deficiency - See Osteopetrosis autosomal recessive 3
* Carcinoid somatostatinoma - See Somatostatinoma
* Carcinoid syndrome
* Carcinoid tumor
* Carcinoid tumor childhood
* Carcinoid tumor syndrome - See Carcinoid syndrome
* Carcinoma of the penis - See Penile cancer, adult
* Carcinoma of the vocal tract
* Carcinoma of unknown primary site, childhood
* Carcinoma showing thymus-like differentiation
* Carcinoma with metaplasia - See Metaplastic carcinoma of the breast
* Carcinoma, merkel cell - See Merkel cell carcinoma
*   Carcinoma, squamous cell - See Squamous cell carcinoma
* Carcinoma, squamous cell of head and neck - See Squamous cell carcinoma of the head and neck
* Carcinosarcoma - See Malignant mixed Mullerian tumor
* Cardiac diverticulum
* Cardiac hydatid cysts with intracavitary expansion
* Cardiac hydatidosis - See Cardiac hydatid cysts with intracavitary expansion
* Cardiac rupture
* Cardiac valvular dysplasia, X-linked
* Cardiac-limb syndrome - See Holt-Oram syndrome
* Cardioauditory syndrome of Jervell and Lange-Nielsen - See Jervell Lange-Nielsen syndrome
* Cardioauditory syndrome of Sanchez Cascos
* Cardiocranial syndrome
* Cardioencephalomyopathy
* Cardiofacial syndrome short limbs
* Cardiofaciocutaneous syndrome
* Cardio-facio-cutaneous syndrome - See Cardiofaciocutaneous syndrome
* Cardiogenital syndrome - See Dilated cardiomyopathy with hypergonadotropic hypogonadism
* Cardiomegalia glycogenica diffusa - See Glycogen storage disease type 2
* Cardiomelic syndrome Stratton Koehler type
* Cardiomyopathic lentiginosis - See LEOPARD syndrome
* Cardiomyopathy and cataract - See Cataract and cardiomyopathy
* Cardiomyopathy and deafness due to MTTK gene mutation - See Cardiomyopathy and deafness due to tRNA lysine gene mutation
* Cardiomyopathy and deafness due to tRNA lysine gene mutation
* 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 familial hypertrophic - See Familial hypertrophic cardiomyopathy
* Cardiomyopathy hypogonadism collagenoma syndrome
* Cardiomyopathy hypogonadism metabolic anomalies
* Cardiomyopathy spherocytosis
* Cardiomyopathy, familial dilated - See Familial dilated cardiomyopathy
* Cardiomyopathy, fatal fetal, due to myocardial calcification
* Cardioskeletal myopathy with neutropenia and abnormal mitochondria - See Barth syndrome
* Cardioskeletal syndrome Kuwaiti type
* Cardiospasm
* Cardiospondylocarpofacial syndrome - See Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
* Cardiovertebral syndrome - See Alagille syndrome
* Carey Fineman Ziter syndrome - See Congenital nonprogressive myopathy with Moebius and Robin sequences
* Carinatum deformity of the chest - See Pectus carinatum
* Carmi syndrome - See Junctional epidermolysis bullosa with pyloric atresia
* Carnevale Canun Mendoza syndrome - See Multicentric osteolysis nephropathy
* Carnevale Hernandez Castillo syndrome
* Carnevale Krajewska Fischetto syndrome - See Carnevale syndrome
* Carnevale syndrome
* Carney complex
* Carney dyad - See Paraganglioma and gastric stromal sarcoma
* Carney myxoma-endocrine complex - See Carney complex
* Carney syndrome - See Carney complex
* Carney triad
* Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma - See Paraganglioma and gastric stromal sarcoma
* Carney-Stratakis syndrome - See Paraganglioma and gastric stromal sarcoma
* Carnitine acetyltransferase deficiency - See Acetyl-carnitine deficiency
* Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine - See Primary carnitine deficiency
* Carnitine palmitoyl transferase 1 deficiency
* Carnitine palmitoyltransferase 1A deficiency - See Carnitine palmitoyl transferase 1 deficiency
* Carnitine palmitoyltransferase 2 deficiency
* Carnitine palmitoyltransferase deficiency type 2 - See Carnitine palmitoyltransferase 2 deficiency
* Carnitine palmitoyltransferase I deficiency , muscle
* Carnitine palmitoyltransferase II (CPT II) deficiency - See Carnitine palmitoyltransferase 2 deficiency
* Carnitine plasma-membrane transporter deficiency - See Primary carnitine deficiency
* Carnitine transporter deficiency - See Primary carnitine deficiency
* Carnitine uptake defect - See Primary carnitine deficiency
* Carnitine uptake deficiency - See Primary carnitine deficiency
* Carnitine-acylcarnitine translocase deficiency
* Carnosinase deficiency - See Carnosinemia
* Carnosinemia
* Caroli disease
* Caroli disease isolated - See Caroli disease
* Carotid body paraganglioma - See Carotid body tumor
* Carotid body tumor
* Carotid body tumors - See Carotid body tumor
*   Carotidynia
* Carpal deformity migrognathia microstomia
* Carpenter syndrome
* Carpenter-Waziri syndrome - See Mental retardation-hypotonic facies syndrome X-linked, 1
* Carpo tarsal osteolysis recessive
* Carpotarsal osteochondromatosis
* Carrington syndrome
* Carrington's Disease - See Carrington syndrome
* Carrington's pulmonary eosinophilia - See Carrington syndrome
* Cartilage collagen - See Collagenopathy type 2 alpha 1
* Cartilage hair hypoplasia like syndrome - See Cartilage-hair hypoplasia
* Cartilage-hair hypoplasia
* Cartilage-hair hypoplasia variant, skeletal manifestations only - See Metaphyseal dysplasia without hypotrichosis
* Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency - See Metaphyseal dysplasia without hypotrichosis
* Cartilaginous cancer
* Cartilaginous or bony projections into the tracheobronchial lumen - See Tracheobronchopathia osteoplastica
* Cartwright Nelson Fryns syndrome
* Carvajal syndrome - See Cardiomyopathy dilated with woolly hair and keratoderma
* CASIL - See CADASIL
* CASM syndrome - See Cataracts, ataxia, short stature, and mental retardation
* Caspase 8 deficiency - See Caspase-8 deficiency
* Caspase-8 deficiency
* CASS - See Cataract, alopecia, sclerodactyly
* Cassavism
* Cast syndrome - See Superior mesenteric artery syndrome
* CASTLE - See Carcinoma showing thymus-like differentiation
* Castleman's disease
* Castro Gago-Pombo-Novo syndrome - See Microcephaly-albinism-digital anomalies syndrome
* Cat cry syndrome - See Cri du chat syndrome
* Cat Eye syndrome
* Cat scratch disease
* Cat scratch fever - See Cat scratch disease
* Catalase deficiency - See Acatalasemia
* Catamenial pneumothorax
* Cataract and cardiomyopathy
* Cataract and congenital ichthyosis
* Cataract anterior polar - See Cataract anterior polar dominant
* Cataract anterior polar dominant
* Cataract ataxia deafness
* Cataract ataxia deafness syndrome - See Cataract ataxia deafness
* Cataract congenital X-linked - See Cataract, congenital, with microcornea or slight microphthalmia
* Cataract congenital autosomal dominant
* Cataract congenital dominant non nuclear
* Cataract congenital Volkmann type
* Cataract dental syndrome - See Nance-Horan syndrome
* Cataract Hutterite type
* Cataract hyperostosis frontalis dislocating patella - See Weleber Hecht Bigley syndrome
* Cataract hypertrichosis mental retardation
* Cataract mental retardation anal atresia urinary defects - See Karandikar Maria Kamble syndrome
* Cataract mental retardation hypogonadism
* Cataract microcornea syndrome
* Cataract microphthalmia septal defect
* Cataract skeletal anomalies
* Cataract with Hyperostosis Frontalis and Dislocating Patella - See Weleber Hecht Bigley syndrome
* Cataract X-linked with Hutchinsonian teeth - See Nance-Horan syndrome
* Cataract, alopecia, sclerodactyly
* Cataract, alopecia, sclerodactyly syndrome - See Cataract, alopecia, sclerodactyly
* Cataract, anterior polar 2 - See Anterior polar cataract 2
* Cataract, autosomal recessive congenital 2
* Cataract, congenital, blue dot type 1 - See Cerulean cataract
* Cataract, congenital, cerulean type 1 - See Cerulean cataract
* Cataract, congenital, with microcornea or slight microphthalmia
* Cataract, congenital, with microphthalmia - See Microphthalmia cataract
* Cataract, Hypertrichosis, Mental Retardation syndrome - See CAHMR syndrome
* Cataract, lamellar - See Cataract, zonular
* Cataract, mental retardation, hypogonadism - See Martsolf syndrome
* Cataract, microphthalmia and nystagmus
* Cataract, polymorphic congenital - See Cataract congenital dominant non nuclear
* Cataract, posterior polar, 1
* Cataract, posterior polar, 3
* Cataract, posterior polar, 4
* Cataract, posterior polar, 5
* Cataract, total congenital
* Cataract, total congenital with posterior sutural opacities in Heterozygotes - See Cataract, total congenital
* Cataract, zonular
* Cataract-ataxia-deafness-retardation syndrome - See Cataract ataxia deafness
* Cataract-glaucoma
* Cataract-hyperferritinemia syndrome - See Hyperferritinemia cataract syndrome
* Cataract-microcephaly-failure to thrive-kyphoscoliosis
* Cataracts and testicular failure - See Lubinsky syndrome
* Cataracts, aberrant oral frenula, and growth retardation - See Wellesley Carmen French syndrome
* Cataracts, ataxia, short stature, and mental retardation
* Cataracts, motor neuronopathy, short stature and skeletal abnormalities - See Spastic paraplegia 9
* Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities - See Slavotinek Pike Mills Hurst syndrome
* Cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental - See Flynn Aird syndrome
* Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature - See Schaap Taylor Baraitser syndrome
* Catastrophic antiphospholipid antibody syndrome - See Catastrophic antiphospholipid syndrome
* Catastrophic antiphospholipid syndrome
* Catatonia of Kraepelin - See Presenile dementia, Kraepelin type
* Catatrichy
* CATC2 - See Cataract, autosomal recessive congenital 2
* CATCH22 - See 22q11.2 deletion syndrome
* Catecholamine-induced polymorphic ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
* Catecholaminergic polymorphic ventricular tachycardia
* Catel Manzke syndrome
* Cathepsin A deficiency of - See Galactosialidosis
* CATSHL syndrome - See Camptodactyly, tall stature, and hearing loss syndrome
* Cauda equina syndrome
* Caudal appendage deafness
* Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation - See Caudal appendage deafness
* Caudal duplication
* Caudal dysgenesis familial type - See Rudd Klimek syndrome
* Caudal dysgenesis syndrome - See Sacral defect with anterior meningocele
* Caudal dysplasia - See Caudal regression syndrome
* Caudal regression sequence - See Caudal regression syndrome
* Caudal regression syndrome
* Caused by a t(11;22)(q23;q11.2) translocation - See Emanuel syndrome
* Caused by deficiency of selenium in the diet - See Keshan disease
* CAUV - See Mayer-Rokitansky-Kuster-Hauser syndrome
* CAVC - See Complete atrioventricular canal
* CAVD - See Congenital bilateral absence of the vas deferens
* Cavernoma - See Cerebral cavernous malformation
* Cavernous angioma - See Cerebral cavernous malformation
* Cavernous haemangioma of the rectum - See Diffuse cavernous hemangioma of the rectum
* Cavernous lymphangioma
* Cayler cardiofacial syndrome - See 22q11.2 deletion syndrome
*   Cazenave's Vitiligo - See Alopecia areata
* CBAS1 - See Bile acid synthesis defect, congenital, 1
* CBAS2 - See Bile acid synthesis defect, congenital, 2
* CBAS4 - See Bile acid synthesis defect, congenital, 4
* CBAVD - See Congenital bilateral absence of the vas deferens
* CBBM - See Blue cone monochromatism
* CBGD - See Corticobasal degeneration
* cblC - See Methylmalonic acidemia and homocystinuria cblC type
* CBPS - See Bilateral perisylvian polymicrogyria
* CBS - See Charles Bonnet syndrome
* CBS deficiency - See Homocystinuria due to CBS deficiency
* CBT - See Carotid body tumor
* CCA - See Congenital contractural arachnodactyly
* CCA1 - See Cerulean cataract
* CCAL1 - See Chondrocalcinosis 1
* CCAL2 - See Chondrocalcinosis 2
* CCD - See Central core disease
* CCE - See Congenital cystic eye
* Ccge syndrome
* CCHS - See Congenital central hypoventilation syndrome
* CCM - See Cerebral cavernous malformation
* CCM syndrome - See Cerebro-costo-mandibular syndrome
* CCMS - See Cerebro-costo-mandibular syndrome
* CCO - See Central core disease
* CCP - See Cataract congenital dominant non nuclear
* CCT - See Cataract, total congenital
* CCV - See Cataract congenital Volkmann type
* CD - See Cowden syndrome
* CD3 deficiency
* CD4 deficiency
* CDA - See Corneal dystrophy Avellino type
* CDA and CRMO - See Majeed syndrome
* CDA I - See Congenital dyserythropoietic anemia type 1
* CDA II - See Congenital dyserythropoietic anemia type 2
* CDA III - See Congenital dyserythropoietic anemia type 3
* CDAGS syndrome - See Craniosynostosis, anal anomalies, and porokeratosis
* CDAN2 - See Congenital dyserythropoietic anemia type 2
* CDB1 - See Corneal dystrophy of Bowman layer type 1
* CDB2 - See Corneal dystrophy Thiel Behnke type
* CDC - See Collecting duct carcinoma
* CDG - See Congenital disorders of glycosylation
* CDG 1A - See Congenital disorder of glycosylation type 1A
* CDG 1B - See Congenital disorder of glycosylation type 1B
* CDG 1C - See Congenital disorder of glycosylation type 1C
* CDG 1D - See Congenital disorder of glycosylation type 1D
* CDG 1E - See Congenital disorder of glycosylation type 1E
* CDG 1F - See Congenital disorder of glycosylation type 1F
* CDG 1G - See Congenital disorder of glycosylation type 1G
* CDG 1H - See Congenital disorder of glycosylation type 1H
* CDG 1I - See Congenital disorder of glycosylation type 1I
* CDG 1J - See Congenital disorder of glycosylation type 1J
* CDG 1K - See Congenital disorder of glycosylation type 1K
* CDG 1L - See Congenital disorder of glycosylation type 1L
* CDG 2A - See Congenital disorder of glycosylation type 2A
* CDG 2B - See Congenital disorder of glycosylation type 2B
* CDG 2C - See Congenital disorder of glycosylation type 2C
* CDG 2D - See Congenital disorder of glycosylation type 2D
* CDG 2E - See Congenital disorder of glycosylation type 2E
* CDG 2G - See Congenital disorder of glycosylation type 2G
* CDG gastrointestinal type - See Congenital disorder of glycosylation type 1B
* CDG IIl - See Congenital disorder of glycosylation type IIL
* CDG syndrome type 3
* CDG syndrome type 4
* CDG X - See Congenital disorder of glycosylation type I/IIX
* CDG1A - See Congenital disorder of glycosylation type 1A
* CDG1B - See Congenital disorder of glycosylation type 1B
* CDG1C - See Congenital disorder of glycosylation type 1C
* CDG1D - See Congenital disorder of glycosylation type 1D
* CDG1E - See Congenital disorder of glycosylation type 1E
* CDG1F - See Congenital disorder of glycosylation type 1F
* CDG1G - See Congenital disorder of glycosylation type 1G
* CDG1H - See Congenital disorder of glycosylation type 1H
* CDG1I - See Congenital disorder of glycosylation type 1I
* CDG1J - See Congenital disorder of glycosylation type 1J
* CDG1K - See Congenital disorder of glycosylation type 1K
* CDG1L - See Congenital disorder of glycosylation type 1L
* CDG2A - See Congenital disorder of glycosylation type 2A
* CDG2B - See Congenital disorder of glycosylation type 2B
* CDG2C - See Congenital disorder of glycosylation type 2C
* CDG2D - See Congenital disorder of glycosylation type 2D
* CDG2E - See Congenital disorder of glycosylation type 2E
* CDG2G - See Congenital disorder of glycosylation type 2G
* CDG2L - See Congenital disorder of glycosylation type IIL
* CDGDL - See Amyloidosis corneal
* CDGG1 - See Groenouw type I corneal dystrophy
* CDGIIl - See Congenital disorder of glycosylation type IIL
* CDGS2 - See Congenital disorder of glycosylation type 2A
* CDGS4 (formerly) - See Congenital disorder of glycosylation type 1D
* CDGS5 (formerly) - See Congenital disorder of glycosylation type 1C
* CDH - See Congenital diaphragmatic hernia
* CDHS - See Craniofacial deafness hand syndrome
* CDK4 linked melanoma
* CDKL5 - See CDKL5-related disorder
* CDKL5 disorder - See CDKL5-related disorder
* CDKL5-related disorder
* CDL1 - See Lattice corneal dystrophy type 1
* CDLS - See Cornelia de Lange syndrome
* CDO syndrome - See Corneodermatoosseous syndrome
* CDPD - See Corneal dystrophy and perceptive deafness
* CDPR - See Rhizomelic chondrodysplasia punctata type 1
* CDPX1 - See Chondrodysplasia punctata 1, X-linked recessive
* CDPX2 - See Chondrodysplasia punctata 2 X-linked dominant
* CDPXD - See Chondrodysplasia punctata 2 X-linked dominant
* CDRB - See Corneal dystrophy of Bowman layer type 1
* CDS - See Chanarin-Dorfman syndrome
* CDT - See Focal cortical dysplasia of Taylor
* CDTB - See Corneal dystrophy Thiel Behnke type
* CEBV - See Chronic active Epstein-Barr virus infection
* CED - See Camurati-Engelmann disease
* CED2 - See Camurati Engelmann disease, type 2
* CEDNIK syndrome - See Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
*   Celiac disease
* Celiac disease epilepsy occipital calcifications - See Epilepsy occipital calcifications
*   Celiac sprue - See Celiac disease
* Cellular ependymoma (histologic variant) - See Ependymoma
* Cellular schwannoma (histologic variant) - See Schwannoma
*   Celsus' Vitiligo - See Alopecia areata
* Cenani syndactylism - See Syndactyly Cenani Lenz type
* Cenani-Lenz type syndactyly - See Syndactyly Cenani Lenz type
* Cennamo Gangemi syndrome
* Central areolar choroidal dystrophy - See Choroidal dystrophy central areolar
* Central areolar pigment epithelial dystrophy - See North Carolina macular dystrophy
* Central centrifugal alopecia - See Central centrifugal cicatricial alopecia
* Central centrifugal cicatricial alopecia
* Central core disease
* Central core disease of muscle - See Central core disease
* Central diabetes insipidus - See Neurogenic diabetes insipidus
* Central nervous system lymphoma, primary
* Central neurocytoma
* Central pain syndrome - See Central post-stroke pain
* Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation - See Orofaciodigital syndrome 6
*   Central pontine myelinolysis
* Central post-stroke pain
* Central serous chorioretinopathy
* Central serous chorioretinopathy after bone marrow transplantation - See Central serous chorioretinopathy
* Central serous choroidopathy - See Central serous chorioretinopathy
* Centromeric instability, immunodeficiency syndrome - See ICF syndrome
* Centronuclear myopathy
* CEOT - See Calcifying Epithelial Odontogenic Tumor
* CEP - See Congenital porphyria
* Cephalocele - See Encephalocele
* Cephaloskeletal dysplasia - See Microcephalic osteodysplastic primordial dwarfism type 1
* CEPS - See Congenital extrahepatic portosystemic shunt
* Ceramidase deficiency - See Farber's disease
* Ceramide trihexosidase deficiency - See Fabry disease
* Cercarial Dermatitis
* Cerebellar agenesis
* Cerebellar astrocytoma, childhood
* Cerebellar ataxia - hypogonadism - See Cerebellar ataxia and hypogonadotropic hypogonadism
* Cerebellar ataxia and hypogonadotropic hypogonadism
* Cerebellar ataxia autosomal dominant FGF14-related - See Spinocerebellar ataxia 27
* Cerebellar ataxia early onset with retained tendon reflex - See Harding ataxia
* Cerebellar ataxia early-onset nonprogressive - See Spinocerebellar ataxia 29
* Cerebellar ataxia ectodermal dysplasia
* Cerebellar ataxia infantile nonprogressive autosomal recessive - See Spinocerebellar ataxia autosomal recessive 6
* Cerebellar ataxia infantile with progressive external ophthalmoplegia
* Cerebellar ataxia with extrapyramidal involvement early-onset - See Spinocerebellar ataxia X-linked type 2
* Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities - See Spinocerebellar ataxia autosomal recessive 5
* Cerebellar ataxia with neuronal migration defect - See Bilateral frontoparietal polymicrogyria
* Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
* Cerebellar ataxia, autosomal dominant with mental retardation - See Spinocerebellar ataxia 13
* Cerebellar ataxia, cataract, deafness, and dementia or psychosis - See Dementia, familial Danish
* Cerebellar ataxia, paroxysmal, Acetazolamide-responsive - See Episodic ataxia with nystagmus
* Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system - See Gerstmann-Straussler-Scheinker disease
* Cerebellar atrophy with progressive microcephaly - See Pontocerebellar hypoplasia type 3
* Cerebellar degeneration
* Cerebellar degeneration, subacute - See Subacute cerebellar degeneration
* Cerebellar disorder, nonprogressive, with mental retardation - See Dysequilibrium syndrome
* Cerebellar granular cell hypoplasia and mental retardation, congenital - See Cerebelloparenchymal disorder 3
* Cerebellar hypoplasia
* Cerebellar hypoplasia tapetoretinal degeneration
* Cerebellar hypoplasia with endosteal sclerosis
* Cerebellar hypoplasia with pancytopenia - See Hoyeraal Hreidarsson syndrome
* Cerebellar hypoplasia, nonprogressive Norman type - See Cerebelloparenchymal disorder 3
* Cerebellar hypoplasia, VLDLR associated - See Dysequilibrium syndrome
* Cerebellar liponeurocytoma
* Cerebellar Parenchymal Disease - See Parenchymatous cortical degeneration of cerebellum
* Cerebellar vermis agenesis - See Joubert syndrome
* Cerebellar vermis aplasia - See Spinocerebellar ataxia 29
* Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis - See COACH syndrome
* Cerebello-oculocutaneous telangiectasia - See Ataxia telangiectasia
* Cerebellooculorenal syndrome 1 - See Joubert syndrome
* Cerebellooculorenal syndrome 2 - See Joubert syndrome 2
* Cerebelloolivary atrophy - See Cerebello-olivary atrophy
* Cerebello-olivary atrophy
* Cerebelloparenchymal disorder 1 - See Spinocerebellar ataxia 1
* Cerebelloparenchymal disorder 3
* Cerebelloparenchymal disorder 4 - See Joubert syndrome
* Cerebellopathy, hereditary paroxysmal - See Episodic ataxia with nystagmus
* Cerebellopontine angle tumor - See Acoustic neuroma
* Cerebellotrigeminal dermal dysplasia - See Gomez Lopez Hernandez syndrome
* Cerebellotrigeminal-dermal dysplasia - See Gomez Lopez Hernandez syndrome
* Cerebellum agenesis hydrocephaly
* Cerebral amyloid angiopathy - See Amyloidosis cerebral
* Cerebral amyloid angiopathy, British type - See Dementia familial British
* Cerebral amyloidosis - See Amyloidosis cerebral
* Cerebral aneurysm-cirrhosis syndrome - See Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
* Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy - See CADASIL
* Cerebral astroblastoma - See Astroblastoma
* Cerebral astrocytoma, childhood
* Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - See CADASIL
* Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
* Cerebral calcification cerebellar hypoplasia
* Cerebral calcification nonarteriosclerotic idiopathic adult-onset - See Familial idiopathic basal ganglia calcification
* Cerebral calcification nonarteriosclerotic idiopathic childhood-onset - See Idiopathic basal ganglia calcification childhood-onset
* Cerebral calcifications opalescent teeth phosphaturia
* Cerebral cavernous hemangioma - See Cerebral cavernous malformation
* Cerebral cavernous malformation
* Cerebral cholesterinosis - See Cerebrotendinous xanthomatosis
* Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
* Cerebral folate deficiency
* Cerebral folate deficiency syndrome - See Cerebral folate deficiency
* Cerebral gigantism - See Sotos syndrome
* Cerebral gigantism jaw cysts
* Cerebral gigantism nevo type - See Nevo syndrome
* Cerebral malformation, seizures, hypertrichosis, and overlapping fingers - See Muller Barth Menger syndrome
* Cerebral palsy
* Cerebral palsy ataxic
* Cerebral palsy athetoid
* Cerebral palsy dyskinetic - See Cerebral palsy athetoid
* Cerebral palsy spastic diplegic - See Spastic diplegia cerebral palsy
* Cerebral palsy spastic hemiplegic
* Cerebral palsy spastic monoplegic
* Cerebral palsy spastic quadriplegic
* Cerebral palsy, spastic quadriplegic, 4 (formerly) - See Spastic paraplegia 51
* Cerebral sarcoma
* Cerebral sclerosis diffuse metachromatic form - See Metachromatic leukodystrophy
* Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
* Cerebral ventricle cancer
* Cerebral, ocular, dental, auricular, and skeletal syndrome - See CODAS syndrome
* Cerebro facio thoracic dysplasia
* Cerebroarthrodigital syndrome - See Spranger Schinzel Myers syndrome
* Cerebro-costo-mandibular syndrome
* Cerebrocostomandibular syndrome - See Cerebro-costo-mandibular syndrome
* Cerebrocostomandibular-like syndrome
* Cerebrofacioarticular syndrome - See Van Maldergem Wetzburger Verloes syndrome
* Cerebro-facio-articular syndrome - See Van Maldergem Wetzburger Verloes syndrome
* Cerebro-facio-articular syndrome of Van Maldergem - See Van Maldergem Wetzburger Verloes syndrome
* Cerebrofaciothoracic dysplasia - See Cerebro facio thoracic dysplasia
* Cerebro-frontofacial syndrome, type 3 - See Baraitser-Winter syndrome
* Cerebrohepatorenal syndrome - See Zellweger syndrome
* Cerebromuscular dystrophy, Fukuyama type - See Fukuyama type muscular dystrophy
* Cerebroocular dysgenesis - See Walker-Warburg syndrome
* Cerebroocular dysplasia muscular dystrophy syndrome - See Walker-Warburg syndrome
* Cerebro-oculo-dento-auriculo-skeletal syndrome - See CODAS syndrome
* Cerebro-oculo-facio-skeletal syndrome
* Cerebrooculofacio-skeletal syndrome 1 - See Cockayne syndrome type II
* Cerebro-oculo-hepato-renal syndrome - See Joubert syndrome with oculorenal anomalies
* Cerebroosteonephosis syndrome - See Hutterite cerebroosteonephrodysplasia syndrome
* Cerebroretinal vasculopathy, hereditary - See Retinal vasculopathy with cerebral leukodystrophy
* Cerebroside lipidosis syndrome - See Gaucher disease
* Cerebroside sulfatase deficiency - See Metachromatic leukodystrophy
* Cerebrospinal fluid leak
* Cerebrotendinous xanthomatosis
* Cerebrovascular disease with thin skin, alopecia, and disc disease - See Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
* Cerebro-vascular lesions and livedo reticularis - See Sneddon syndrome
* Ceroid lipofuscinosis neuronal 1
* Ceroid lipofuscinosis neuronal 10
* Ceroid lipofuscinosis neuronal 2
* Ceroid lipofuscinosis neuronal 3 - See Batten disease
* Ceroid lipofuscinosis neuronal 5
* Ceroid lipofuscinosis neuronal 6
* Ceroid lipofuscinosis neuronal 7
* Ceroid lipofuscinosis neuronal 8 - See Northern Epilepsy
* Ceroid lipofuscinosis neuronal 9
* Ceroid lipofuscinosis neuronal Cathepsin D-deficient - See Ceroid lipofuscinosis neuronal 10
* Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
* Ceroid lipofuscinosis, neuronal, Parry type - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
* Ceroid storage disease
* Cerulean cataract
* Ceruloplasmin deficiency - See Aceruloplasminemia
* Cervical dystonia
* Cervical hypertrichosis peripheral neuropathy
* Cervical intraepithelial neoplasia
* Cervical lymphocele with bowed long bones - See Campomelia Cumming type
* Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
* Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction - See Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
* Cervical vertebral fusion - See Klippel Feil syndrome
* Cervical vertebral fusion autosomal dominant - See Klippel Feil syndrome
* Cervical vertebral fusion autosomal recessive - See Klippel Feil syndrome
* Cervico-oculo-acoustic dysplasia - See Wildervanck syndrome
* Cervicooculoacoustic syndrome - See Wildervanck syndrome
* Cervico-oculo-acoustic syndrome - See Wildervanck syndrome
* CES - See Cat Eye syndrome
* CF - See Cystic fibrosis
* CFC syndrome - See Cardiofaciocutaneous syndrome
* CFD1 - See Crouzon syndrome
* CFEOM-U - See Tukel syndrome
* CFND - See Craniofrontonasal dysplasia
* CFNS - See Craniofrontonasal dysplasia
* CFTDM - See Congenital fiber type disproportion
* CFZ syndrome - See Congenital nonprogressive myopathy with Moebius and Robin sequences
* CGH - See Hypertrichosis congenital generalized X-linked
* CGL4 - See Congenital generalized lipodystrophy type 4
* CGM - See Congenital giant megaureter
* CHAC - See Choreoacanthocytosis
* CHACS - See Curly hair-acral keratoderma-caries syndrome
*   Chagas disease
* Chanarin-Dorfman disease - See Chanarin-Dorfman syndrome
* Chanarin-Dorfman syndrome
* Chancroid
* CHAND syndrome
* Chandler syndrome - See Chandler's syndrome
* Chandler's syndrome
* CHANDS - See CHAND syndrome
* Chang Davidson Carlson syndrome
* Chaotic atrial tachycardia
* CHAR - See Char syndrome
* Char douglas dungan syndrome - See Extrasystoles short stature hyperpigmentation microcephaly
* Char syndrome
* Charcot Marie Tooth disease - See Charcot-Marie-Tooth disease
* Charcot Marie Tooth disease deafness recessive type - See Charcot-Marie-Tooth disease deafness recessive type
* Charcot Marie Tooth disease dominant intermediate 1 - See Charcot-Marie-Tooth disease dominant intermediate 1
* Charcot Marie Tooth disease dominant intermediate 2 - See Charcot-Marie-Tooth disease dominant intermediate 2
* Charcot Marie Tooth disease dominant intermediate 3 - See Charcot-Marie-Tooth disease dominant intermediate 3
* Charcot Marie Tooth disease neuronal type A - See Charcot-Marie-Tooth disease neuronal type A
* Charcot Marie Tooth disease neuronal type B - See Charcot-Marie-Tooth disease neuronal type B
* Charcot Marie Tooth disease neuronal type D - See Charcot-Marie-Tooth disease neuronal type D
* Charcot Marie Tooth disease type 1A - See Charcot-Marie-Tooth disease type 1A
* Charcot Marie Tooth disease type 1B - See Charcot-Marie-Tooth disease type 1B
* Charcot Marie Tooth disease type 1C - See Charcot-Marie-Tooth disease type 1C
* Charcot Marie Tooth disease type 1D - See Charcot-Marie-Tooth disease type 1D
* Charcot Marie Tooth disease type 1E - See Charcot-Marie-Tooth disease type 1E
* Charcot Marie Tooth disease type 1F - See Charcot-Marie-Tooth disease type 1F
* Charcot Marie Tooth disease type 2A - See Charcot-Marie-Tooth disease type 2A
* Charcot Marie Tooth disease type 2B - See Charcot-Marie-Tooth disease type 2B
* Charcot Marie Tooth disease type 2B1 - See Charcot-Marie-Tooth disease type 2B1
* Charcot Marie Tooth disease type 2B2 - See Charcot-Marie-Tooth disease type 2B2
* Charcot Marie Tooth disease type 2C - See Charcot-Marie-Tooth disease type 2C
* Charcot Marie Tooth disease type 2D - See Charcot-Marie-Tooth disease type 2D
* Charcot Marie Tooth disease type 2E - See Charcot-Marie-Tooth disease type 2E
* Charcot Marie Tooth disease type 2F - See Charcot-Marie-Tooth disease type 2F
* Charcot Marie Tooth disease type 2G - See Charcot-Marie-Tooth disease type 2G
* Charcot Marie Tooth disease type 2H - See Charcot-Marie-Tooth disease type 2H
* Charcot Marie Tooth disease type 2I - See Charcot-Marie-Tooth disease type 2I
* Charcot Marie Tooth disease type 2J - See Charcot-Marie-Tooth disease type 2J
* Charcot Marie Tooth disease type 2K - See Charcot-Marie-Tooth disease type 2K
* Charcot Marie Tooth disease type 4A - See Charcot-Marie-Tooth disease type 4A
* Charcot Marie Tooth disease type 4B1 - See Charcot-Marie-Tooth disease type 4B1
* Charcot Marie Tooth disease type 4B2 - See Charcot-Marie-Tooth disease type 4B2
* Charcot Marie Tooth disease type 4B2 with early-onset glaucoma - See Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
* Charcot Marie Tooth disease type 4C - See Charcot-Marie-Tooth disease type 4C
* Charcot Marie Tooth disease type 4E - See Charcot-Marie-Tooth disease type 4E
* Charcot Marie Tooth disease X-linked 1 - See Charcot-Marie-Tooth disease X-linked 1
* Charcot Marie Tooth disease X-linked recessive 2 - See Charcot-Marie-Tooth disease X-linked recessive 2
* Charcot Marie Tooth disease X-linked recessive 3 - See Charcot-Marie-Tooth disease X-linked recessive 3
* Charcot Marie Tooth type 1 aplasia cutis congenita - See Charcot-Marie-Tooth type 1 aplasia cutis congenita
* Charcot-Marie-Tooth disease
* Charcot-Marie-Tooth disease - nephropathy - See Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
* Charcot-Marie-Tooth Disease (Variant) - See Roussy Levy syndrome
* Charcot-Marie-Tooth disease and deafness - See Charcot-Marie-Tooth disease type 1E
* Charcot-Marie-Tooth disease deafness recessive type
* 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 dominant intermediate I - See Charcot-Marie-Tooth disease dominant intermediate 1
* Charcot-Marie-Tooth disease dominant intermediate II - See Charcot-Marie-Tooth disease dominant intermediate 2
* 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 with deafness and mental retardation - See Cowchock syndrome
* Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy - See Keratoderma palmoplantar spastic paralysis
* Charcot-Marie-Tooth disease with ptosis and parkinsonism
* Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant
* Charcot-Marie-Tooth disease X-linked 1
* Charcot-Marie-Tooth disease X-linked recessive 2
* Charcot-Marie-Tooth disease X-linked recessive 3
* Charcot-Marie-Tooth disease, autosomal recessive, type 4g - See Neuropathy, hereditary motor and sensory, Russe type
* Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 - See Charcot-Marie-Tooth disease type 2B2
* Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K - See Charcot-Marie-Tooth disease type 2K
* Charcot-Marie-Tooth disease, axonal, Type 2A - See Charcot-Marie-Tooth disease type 2A
* Charcot-Marie-Tooth disease, axonal, Type 2B - See Charcot-Marie-Tooth disease type 2B
* Charcot-Marie-Tooth disease, axonal, Type 2B1 - See Charcot-Marie-Tooth disease type 2B1
* Charcot-Marie-Tooth disease, axonal, Type 2B2 - See Charcot-Marie-Tooth disease type 2B2
* Charcot-Marie-Tooth disease, axonal, Type 2C - See Charcot-Marie-Tooth disease type 2C
* Charcot-Marie-Tooth disease, axonal, Type 2D - See Charcot-Marie-Tooth disease type 2D
* Charcot-Marie-Tooth disease, axonal, Type 2E - See Charcot-Marie-Tooth disease type 2E
* Charcot-Marie-Tooth disease, axonal, Type 2F - See Charcot-Marie-Tooth disease type 2F
* Charcot-Marie-Tooth disease, axonal, Type 2G - See Charcot-Marie-Tooth disease type 2G
* Charcot-Marie-Tooth disease, axonal, Type 2H - See Charcot-Marie-Tooth disease type 2H
* Charcot-Marie-Tooth disease, axonal, Type 2I - See Charcot-Marie-Tooth disease type 2I
* Charcot-Marie-Tooth disease, axonal, Type 2J - See Charcot-Marie-Tooth disease type 2J
* Charcot-Marie-Tooth disease, axonal, Type 2K - See Charcot-Marie-Tooth disease type 2K
* Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive - See Charcot-Marie-Tooth disease type 2H
* Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive - See Charcot-Marie-Tooth disease type 2G
* Charcot-Marie-Tooth disease, demyelinating, autosomal recessive - See Charcot-Marie-Tooth disease type 4A
* Charcot-Marie-Tooth disease, demyelinating, type 1A - See Charcot-Marie-Tooth disease type 1A
* Charcot-Marie-Tooth disease, demyelinating, Type 1B - See Charcot-Marie-Tooth disease type 1B
* Charcot-Marie-Tooth disease, demyelinating, Type 1C - See Charcot-Marie-Tooth disease type 1C
* Charcot-Marie-Tooth disease, demyelinating, Type 1D - See Charcot-Marie-Tooth disease type 1D
* Charcot-Marie-Tooth disease, demyelinating, Type 1E - See Charcot-Marie-Tooth disease type 1E
* Charcot-Marie-Tooth disease, demyelinating, Type 1F - See Charcot-Marie-Tooth disease type 1F
* Charcot-Marie-Tooth disease, demyelinating, type 4F - See Hypertrophic neuropathy of Dejerine-Sottas
* Charcot-Marie-Tooth disease, Dominant Intermediate E - See Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
* Charcot-Marie-Tooth disease, neuronal, Type 2A - See Charcot-Marie-Tooth disease type 2A
* Charcot-Marie-Tooth disease, neuronal, Type 2B - See Charcot-Marie-Tooth disease type 2B
* Charcot-Marie-Tooth disease, neuronal, Type 2B1 - See Charcot-Marie-Tooth disease type 2B1
* Charcot-Marie-Tooth disease, neuronal, Type 2B2 - See Charcot-Marie-Tooth disease type 2B2
* Charcot-Marie-Tooth disease, neuronal, Type 2D - See Charcot-Marie-Tooth disease type 2D
* Charcot-Marie-Tooth disease, neuronal, Type 2F - See Charcot-Marie-Tooth disease type 2F
* Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities - See Charcot-Marie-Tooth disease type 2J
* Charcot-Marie-Tooth Disease, type 3 - See Hypertrophic neuropathy of Dejerine-Sottas
* Charcot-Marie-Tooth disease, Type 4A, axonal form - See Charcot-Marie-Tooth disease type 2G
* Charcot-Marie-Tooth disease, Type 4B - See Charcot-Marie-Tooth disease type 4B1
* Charcot-Marie-Tooth Disease, Type 4D - See Neuropathy, hereditary motor and sensory, LOM type
* Charcot-Marie-Tooth disease, type 4g - See Neuropathy, hereditary motor and sensory, Russe type
* Charcot-Marie-Tooth disease, X-linked recessive, 2 - See Charcot-Marie-Tooth disease X-linked recessive 2
* Charcot-Marie-Tooth disease, X-linked recessive, 3 - See Charcot-Marie-Tooth disease X-linked recessive 3
* Charcot-Marie-Tooth disease, X-linked recessive, 4 - See Cowchock syndrome
* Charcot-Marie-Tooth disease, X-linked, 1 - See Charcot-Marie-Tooth disease X-linked 1
* Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant - See Charcot-Marie-Tooth disease type 1E
* Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis - See Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
* Charcot-Marie-Tooth Neuropathy X Type 5 - See X-linked Charcot-Marie-Tooth disease type 5
* Charcot-Marie-Tooth neuropathy, type 2F - See Charcot-Marie-Tooth disease type 2F
* Charcot-Marie-Tooth peroneal muscular atrophy, X-linked - See Charcot-Marie-Tooth disease X-linked 1
* Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita - See Charcot-Marie-Tooth type 1 aplasia cutis congenita
* Charcot-Marie-Tooth type 1 aplasia cutis congenita
* Charcot-Marie-Tooth-Roussy-Levy Disease - See Roussy Levy syndrome
* CHARGE association - See CHARGE syndrome
* CHARGE like syndrome X-linked - See Abruzzo Erickson syndrome
* CHARGE syndrome
* Charles Bonnet syndrome
* Charlevoix disease - See Andermann syndrome
* Charlevoix-Saguenay spastic ataxia - See Spastic ataxia Charlevoix-Saguenay type
* Charlie M syndrome
* CHED2 - See Corneal endothelial dystrophy type 2
* Chediak Higashi syndrome - See Chediak-Higashi syndrome
* Chediak-Higashi syndrome
* Cheilitis glandularis
* Cheilitis Granulomatosa - See Melkersson-Rosenthal syndrome
* Chemke Oliver Mallek syndrome - See Oculo digital syndrome
* Chemke syndrome - See Walker-Warburg syndrome
* Chemke-Oliver-Mallek syndrome - See Oculo digital syndrome
* Chemodectomas - See Paragangliomas 1
* Cheney syndrome - See Hajdu-Cheney syndrome
* Cherry red spot myoclonus syndrome - See Sialidosis type I
* Cherubism
* Cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth - See Ramon Syndrome
* Cherubism, optic atrophy and short stature - See Al Gazali Khidr Prem Chandran syndrome
* Chester porphyria
* Cheveux incoiffables - See Uncombable hair syndrome
* CHH - See Cartilage-hair hypoplasia
* CHHV - See Metaphyseal dysplasia without hypotrichosis
*   Chiari malformation
*   Chiari malformation type 1
* Chiari malformation type 2
* Chiari malformation type 3
* Chiari malformation type 4
*   Chiari malformation type I - See Chiari malformation type 1
* Chiari malformation type II - See Chiari malformation type 2
* Chiari malformation type III - See Chiari malformation type 3
* Chiari malformation type IV - See Chiari malformation type 4
*   Chiari type I malformation - See Chiari malformation type 1
* Chiari type II malformation - See Chiari malformation type 2
* Chiari type III malformation - See Chiari malformation type 3
* Chiari type IV malformation - See Chiari malformation type 4
* Chiari-Frommel syndrome
* Chigger flea - See Tungiasis
* CHIK - See Chikungunya
* Chikungunya
* Chikungunya fever - See Chikungunya
* Chikungunya virus infection - See Chikungunya
* CHIKV infection - See Chikungunya
* Chilaiditi syndrome
* Chilblains - See Perniosis
* ChILD - See Children's interstitial lung disease
* Child abuse dwarfism - See Abuse dwarfism syndrome
* CHILD syndrome
* Childhood absence epilepsy - See Epilepsy juvenile absence
* Childhood acute lymphoblastic leukemia - See Acute lymphoblastic leukemia, childhood
* Childhood ataxia with diffuse central nervous system hypomyelination - See Leukoencephalopathy with vanishing white matter
* Childhood bladder cancer - See Bladder cancer, childhood
* Childhood bladder carcinoma - See Bladder cancer, childhood
* Childhood breast cancer - See Breast cancer, childhood
* Childhood cerebral ALD - See Childhood-onset cerebral X-linked adrenoleukodystrophy
* Childhood cerebral astrocytoma - See Cerebral astrocytoma, childhood
* Childhood colorectal cancer - See Colorectal cancer, childhood
* Childhood disintegrative disorder
* Childhood esophageal cancer - See Esophageal cancer, childhood
* Childhood Hodgkin's lymphoma - See Hodgkin lymphoma, childhood
* Childhood hypophosphatasia - See Hypophosphatasia childhood
* Childhood medulloblastoma - See Medulloblastoma, childhood
* Childhood onset autosomal recessive slowly progressive spinocerebellar ataxia - See Spinocerebellar ataxia autosomal recessive 7
* Childhood pheochromocytoma - See Pheochromocytoma, childhood
* Childhood pineoblastoma - See Pineoblastoma, childhood
* Childhood schizophrenia - See Childhood-Onset Schizophrenia
* Childhood stomach cancer - See Stomach cancer, childhood
* Childhood stomach carcinoma - See Stomach cancer, childhood
* Childhood thyroid cancer - See Thyroid cancer, childhood
* Childhood-onset cerebral X-linked adrenoleukodystrophy
* Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness - See Schimke X-linked mental retardation syndrome
* Childhood-Onset Schizophrenia
* Children's interstitial lung disease
* CHIME syndrome - See Zunich neuroectodermal syndrome
* Chitayat Meunier Hodgkinson syndrome
* Chitayat Moore Del Bigio syndrome - See Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis
* Chitty Hall Webb syndrome
* Chitty-Hall-Baraitser syndrome - See Deafness, epiphyseal dysplasia, short stature
* CHL - See Hypertrichosis lanuginosa congenita
* Chlamydia psittaci - See Psittacosis
* Chlamydial pneumonia - See Psittacosis
* Chloride shunt syndrome - See Pseudohypoaldosteronism type 2
* Chloridorrhea, congenital - See Congenital chloride diarrhea
* Chloroma (formerly) - See Myeloid sarcoma
* CHLS - See Aagenaes syndrome
* CHM - See Choroideremia
* CHN - See Charcot-Marie-Tooth disease type 4E
* Choanal atresia deafness cardiac defects dysmorphism - See Burn-Mckeown syndrome
* Choked disk - See Papilledema
* Cholangitis, primary sclerosing - See Primary sclerosing cholangitis
* Cholecystitis
* Choledochal cyst - See Bile duct cysts
* Choledochocele - See Bile duct cysts
*   Cholemia, familial - See Gilbert syndrome
* Cholera
* Cholestasis lymphedema syndrome - See Aagenaes syndrome
* Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency - See Bile acid synthesis defect, congenital, 2
* Cholestasis with peripheral pulmonary stenosis - See Alagille syndrome
* Cholestasis, benign recurrent intrahepatic 1 - See Benign recurrent intrahepatic cholestasis 1
* Cholestasis, benign recurrent intrahepatic 2 - See Benign recurrent intrahepatic cholestasis 2
* Cholestasis, fatal intrahepatic - See Cholestasis, progressive familial intrahepatic 1
* Cholestasis, intrahepatic of pregnancy - See Intrahepatic cholestasis of pregnancy
* Cholestasis, intrahepatic, with defective conversion of - See Bile acid synthesis defect, congenital, 4
* Cholestasis, progressive familial intrahepatic 1
* Cholestasis, progressive familial intrahepatic 2
* Cholestasis, progressive familial intrahepatic 3
* Cholestasis, progressive familial intrahepatic 4
* Cholestasis-pigmentary retinopathy-cleft palate syndrome - See Hardikar syndrome
* Cholestatic jaundice and renal tubular insufficiency - See Lutz Richner Landolt syndrome
* Cholesteatoma
* Cholesterol pneumonia
* Cholesterol thesaurismosis - See Tangier disease
* Cholesteryl ester storage disease
* Cholinesterase 2 Deficiency - See Pseudocholinesterase deficiency
* Chondroblastoma
* Chondrocalcinosis 1
* Chondrocalcinosis 2
* Chondrocalcinosis due to apatite crystal deposition
* Chondrocalcinosis familial articular - See Chondrocalcinosis 2
* Chondrocalcinosis with early-onset osteoarthritis - See Chondrocalcinosis 1
* Chondrodysplasia
* Chondrodysplasia acromesomelic with genital anomalies
* Chondrodysplasia Blomstrand type
* Chondrodysplasia calcificans metaphysealis
* Chondrodysplasia lethal neonatal with snail like pelvis - See Schneckenbecken dysplasia
* Chondrodysplasia lethal recessive
* Chondrodysplasia punctata 1 X-linked recessive - See Chondrodysplasia punctata 1, X-linked recessive
* Chondrodysplasia punctata 1, X-linked recessive
* Chondrodysplasia punctata 2 X-linked dominant
* Chondrodysplasia punctata brachytelephalangic - See Chondrodysplasia punctata 1, X-linked recessive
* Chondrodysplasia punctata rhizomelic form - See Rhizomelic chondrodysplasia punctata type 1
* Chondrodysplasia punctata Sheffield type
* Chondrodysplasia punctata syndrome
* Chondrodysplasia punctata with steroid sulfatase deficiency
* Chondrodysplasia punctata, brachytelephalangic - See Chondrodysplasia punctata 1, X-linked recessive
* Chondrodysplasia punctata, humero-metacarpal type
* Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate - See Rhizomelic chondrodysplasia punctata type 2
* Chondrodysplasia punctata, x-linked dominant - See Chondrodysplasia punctata 2 X-linked dominant
* Chondrodysplasia situs inversus imperforate anus polydactyly
* Chondrodysplasia with joint dislocations, GPAPP type
* Chondrodysplasia, Grebe type
* Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs - See Fraser Jequier Chen syndrome
* Chondrodystrophia calcificans punctata - See Rhizomelic chondrodysplasia punctata type 1
* Chondrodystrophic myotonia - See Schwartz Jampel syndrome type 1
* Chondrodystrophy
* Chondrodystrophy with sensorineural deafness - See OSMED Syndrome
* Chondrodystrophy with sensorineural deafness - See OSMED Syndrome
* Chondroectodermal dysplasia - See Ellis-Van Creveld syndrome
* Chondroectodermal dysplasia-like syndrome - See Jeune syndrome
* Chondrogenesis imperfecta - See Achondrogenesis type 2
* Chondroma
* Chondropathia tuberosa - See Tietze syndrome
* Chondrosarcoma
* Chordoid glioma of the third ventricle
* Chordoma
* Chorea acanthocytosis - See Choreoacanthocytosis
* Chorea familial benign - See Benign hereditary chorea
* Chorea minor
* Chorea, remitting with nystagmus and cataracts
* Chorea-acanthocytosis - See Choreoacanthocytosis
* Choreoacanthocytosis
* Choreoacanthocytosis amyotrophic
* Choreoathetosis familial paroxysmal - See Dystonia 8
* Choreoathetosis hypothyroidism neonatal respiratory distress - See Brain lung thyroid syndrome
* Choreoathetosis with mental retardation X- linked - See Schimke X-linked mental retardation syndrome
* Choriocarcinoma
* Chorioretinal atrophy, progressive bifocal - See Progressive bifocal chorioretinal atrophy
* Chorioretinal coloboma with cerebellar vermis aplasia - See Joubert syndrome with oculorenal anomalies
* Chorioretinal dysplasia-microcephaly-mental retardation syndrome - See Lymphedema, microcephaly and chorioretinopathy syndrome
* Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism - See Boucher Neuhauser syndrome
* Chorioretinitis
* Chorioretinopathy dominant form microcephaly
* Choroid plexus calcification with mental retardation
* Choroid plexus carcinoma
* Choroid plexus cyst
* Choroid plexus papilloma
* Choroidal atrophy alopecia - See Moloney syndrome
* Choroidal coloboma - See Retinochoroidal coloboma
* Choroidal dystrophy central areolar
* Choroideremia
* Choroideremia deafness obesity - See Ayazi syndrome
* Choroideremia hypopituitarism
* Choroideremia, obesity, and congenital deafness - See Ayazi syndrome
* Choroiditis
* Choroido-cerebral calcification syndrome with retardation - See Choroid plexus calcification with mental retardation
* Choroidoretinal degeneration with retinal reflex in heterozygous women - See Retinitis pigmentosa 3
* Chotzen syndrome - See Saethre-Chotzen syndrome
* CHR - See Zellweger syndrome
* ChRCC - See Chromophobe renal cell carcinoma
* Christian Demyer Franken syndrome
* Christian Johnson Angenieta syndrome
* Christian syndrome - See Mental retardation skeletal dysplasia abducens palsy
* Christianson syndrome
* Christmas disease - See Hemophilia B
* Christ-Siemens-Touraine syndrome - See Hypohidrotic ectodermal dysplasia
* Chromaffin cell tumor - See Pheochromocytoma
* Chromaffin paraganglioma - See Pheochromocytoma
* Chromaffin tumor - See Pheochromocytoma
* Chromaffinoma - See Pheochromocytoma
* Chromhidrosis
* Chromomycosis
* Chromophil RCC - See Chromophil renal cell carcinoma
* Chromophil renal cell carcinoma
* Chromophobe renal cell carcinoma
* Chromosomal triplication
* Chromosome 1 ring - See Ring chromosome 1
* Chromosome 1, uniparental disomy 1q12 q21
* Chromosome 10 ring - See Ring chromosome 10
* Chromosome 10, uniparental disomy
* Chromosome 10p deletion
* Chromosome 10p duplication
* Chromosome 10q deletion
* Chromosome 10q duplication
* Chromosome 11 ring - See Ring chromosome 11
* Chromosome 11p deletion
* Chromosome 11p deletion syndrome - See WAGR syndrome
* Chromosome 11p duplication
* Chromosome 11q deletion
* Chromosome 11q deletion syndrome - See Jacobsen syndrome
* Chromosome 11q duplication
* Chromosome 12 ring - See Ring chromosome 12
* Chromosome 12, Isochromosome 12p syndrome - See Pallister-Killian mosaic syndrome
* Chromosome 12p deletion
* Chromosome 12p duplication
* Chromosome 12q deletion
* Chromosome 12q duplication
* Chromosome 13 ring - See Ring chromosome 13
* Chromosome 13, trisomy 13 complete - See Trisomy 13
* Chromosome 13q deletion
* Chromosome 13q duplication
* Chromosome 14 ring - See Ring chromosome 14
* Chromosome 14q deletion
* Chromosome 14q duplication
* Chromosome 15 ring - See Ring chromosome 15
* Chromosome 15, trisomy mosaicism
* Chromosome 15q deletion
* Chromosome 15q duplication
* Chromosome 15q tetrasomy - See Isodicentric chromosome 15 syndrome
* Chromosome 15q11.2 deletion - See Microdeletion 15q11.2
* Chromosome 15q11.2 microdeletion - See Microdeletion 15q11.2
* Chromosome 15q13.3 deletion syndrome - See 15q13.3 microdeletion syndrome
* Chromosome 15q13.3 duplication syndrome - See 15q13.3 microduplication syndrome
* Chromosome 15q13.3 microdeletion syndrome - See 15q13.3 microdeletion syndrome
* Chromosome 15q13.3 microduplication syndrome - See 15q13.3 microduplication syndrome
* Chromosome 15q25.2 microdeletion
* Chromosome 16 ring - See Ring chromosome 16
* Chromosome 16 trisomy
* Chromosome 16, uniparental disomy
* Chromosome 16p deletion
* Chromosome 16p duplication
* Chromosome 16p11.2 deletion syndrome - See 16p11.2 deletion syndrome
* Chromosome 16p13.3 deletion syndrome
* Chromosome 16p13.3 duplication
* Chromosome 16q deletion
* Chromosome 16q duplication
* Chromosome 16q24.3 microdeletion syndrome - See 16q24.3 microdeletion syndrome
* Chromosome 17 duplication - See Trisomy 17 mosaicism
* Chromosome 17 ring - See Ring chromosome 17
* Chromosome 17 trisomy - See Trisomy 17 mosaicism
* Chromosome 17, trisomy - See Trisomy 17 mosaicism
* Chromosome 17, trisomy mosaicism - See Trisomy 17 mosaicism
* Chromosome 17p deletion
* Chromosome 17p duplication
* Chromosome 17p11.2 deletion syndrome - See Smith-Magenis syndrome
* Chromosome 17p13.1 deletion syndrome
* Chromosome 17q deletion
* Chromosome 17q duplication
* Chromosome 17q21.31 microdeletion syndrome - See Koolen de Vries syndrome
* Chromosome 17q23.1-q23.2 deletion syndrome - See 17q23.1q23.2 microdeletion syndrome
* Chromosome 18 ring - See Ring chromosome 18
* Chromosome 18 trisomy - See Trisomy 18
* Chromosome 18p deletion syndrome
* Chromosome 18p duplication
* Chromosome 18p tetrasomy
* Chromosome 18q duplication
* Chromosome 19 ring - See Ring chromosome 19
* Chromosome 19p deletion
* Chromosome 19p duplication
* Chromosome 19q deletion
* Chromosome 19q duplication
* Chromosome 19q13.11 deletion syndrome
* Chromosome 1p deletion
* Chromosome 1p duplication
* Chromosome 1p36 deletion syndrome
* Chromosome 1q deletion
* Chromosome 1q duplication
* Chromosome 1q21.1 duplication syndrome
* Chromosome 1q21.1 microdeletion syndrome - See 1q21.1 microdeletion syndrome
* Chromosome 1q41-q42 deletion syndrome
* Chromosome 1q44 microdeletion syndrome - See 1q44 microdeletion syndrome
* Chromosome 2 ring - See Ring chromosome 2
* Chromosome 20 ring - See Ring chromosome 20
* Chromosome 20 trisomy
* Chromosome 20p deletion
* Chromosome 20p duplication
* Chromosome 20q deletion
* Chromosome 20q duplication
* Chromosome 21 ring - See Ring chromosome 21
* Chromosome 21, uniparental disomy
* Chromosome 21q deletion
* Chromosome 21q duplication
* Chromosome 22 partial tetrasomy - See Cat Eye syndrome
* Chromosome 22 ring - See Ring chromosome 22
* Chromosome 22 trisomy - See Trisomy 22
* Chromosome 22q deletion
* Chromosome 22q duplication
* Chromosome 22q11.2 deletion syndrome - See 22q11.2 deletion syndrome
* Chromosome 22q11.2 duplication syndrome - See 22q11.2 duplication syndrome
* Chromosome 22q13.3 deletion syndrome - See 22q13.3 deletion syndrome
* Chromosome 2p deletion
* Chromosome 2p duplication
* Chromosome 2q deletion
* Chromosome 2q duplication
* Chromosome 2q23.1 microdeletion syndrome - See 2q23.1 microdeletion syndrome
* Chromosome 2q24 microdeletion syndrome
* Chromosome 2q37 deletion syndrome - See 2q37 deletion syndrome
* Chromosome 3 ring - See Ring chromosome 3
* Chromosome 3, monosomy 3p25 - See 3p deletion syndrome
* Chromosome 3, trisomy 3q
* Chromosome 3p deletion
* Chromosome 3p duplication
* Chromosome 3q deletion
* Chromosome 3q29 microduplication syndrome
* Chromosome 4 ring - See Ring chromosome 4
* Chromosome 4p deletion
* Chromosome 4p duplication
* Chromosome 4p syndrome - See Wolf-Hirschhorn syndrome
* Chromosome 4q deletion
* Chromosome 4q duplication
* Chromosome 5 ring - See Ring chromosome 5
* Chromosome 5, uniparental disomy
* Chromosome 5p deletion
* Chromosome 5p deletion syndrome - See Cri du chat syndrome
* Chromosome 5p duplication
* Chromosome 5p- syndrome - See Cri du chat syndrome
* Chromosome 5q deletion
* Chromosome 5q duplication
* Chromosome 5q14.3 deletion syndrome - See 5q14.3 microdeletion syndrome
* Chromosome 6 ring - See Ring chromosome 6
* Chromosome 6-associated transient diabetes mellitus - See Transient neonatal diabetes mellitus
* Chromosome 6p deletion
* Chromosome 6p duplication
* Chromosome 6q deletion
* Chromosome 6q duplication
* Chromosome 6q25 microdeletion syndrome
* Chromosome 7 ring - See Ring chromosome 7
* Chromosome 7p deletion
* Chromosome 7p duplication
* Chromosome 7q deletion
* Chromosome 7q duplication
* Chromosome 7q11.23 duplication syndrome - See 7q11.23 duplication syndrome
* Chromosome 8 ring - See Ring chromosome 8
* Chromosome 8p deletion
* Chromosome 8p duplication
* Chromosome 8p23.1 deletion
* Chromosome 8q deletion
* Chromosome 8q duplication
*   Chromosome 9 inversion
* Chromosome 9 ring - See Ring chromosome 9
* Chromosome 9p deletion
* Chromosome 9p duplication
* Chromosome 9p tetrasomy - See Tetrasomy 9p
* Chromosome 9q deletion
* Chromosome 9q deletion syndrome - See Kleefstra syndrome
* Chromosome 9q duplication
* Chromosome 9q34.3 deletion syndrome - See Kleefstra syndrome
* Chromosome triploidy syndrome - See Triploidy
* Chromosome X Monosomy X - See Turner syndrome
* Chromosome X pentasomy - See 49,XXXXX syndrome
* Chromosome Xp deletion
* Chromosome Xp22 deletion syndrome
* Chromosome Xq deletion
* Chromosome Xq duplication
* Chromosome Xq28 deletion syndrome
* Chromosome XXXXX syndrome - See 49,XXXXX syndrome
* Chromosome19p13.12 microdeletion - See 19p13.12 microdeletion syndrome
* Chronic active Epstein-Barr disease - See Chronic active Epstein-Barr virus infection
* Chronic active Epstein-Barr virus infection
* Chronic Ataxic Neuropathy Ophthalmoplegia M-protein Agglutination Disialosyl antibodies syndrome - See CANOMAD syndrome
* Chronic Atrial Intestinal Dysrhythmia syndrome - See CAID syndrome
* Chronic atrophic polychondritis - See Relapsing polychondritis
* Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
* Chronic B-cell leukemia - See Leukemia, B-cell, chronic
* Chronic berylliosis
* Chronic demyelinizing neuropathy with IgM monoclonal
* Chronic eosinophilic pneumonia (CEP) - See Carrington syndrome
* Chronic erosive gastritis
* Chronic familial neutropenia - See Neutropenia chronic familial
*   Chronic fatigue syndrome
* Chronic graft versus host disease
* Chronic granulocytic leukemia - See Chronic myeloid leukemia
* Chronic granulomatous disease
* Chronic GVHD - See Chronic graft versus host disease
* Chronic heavy metal poisoning - See Heavy metal poisoning
* Chronic hiccups
* Chronic idiopathic eosinophilic pneumonia - See Carrington syndrome
* Chronic Idiopathic Jaundice - See Dubin-Johnson syndrome
* Chronic Infantile Neurological Cutaneous Articular syndrome
* Chronic inflammatory demyelinating polyneuropathy
* Chronic Inflammatory Demyelinating Polyradiculoneuropathy - See Chronic inflammatory demyelinating polyneuropathy
* Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
* Chronic lymphocytic leukemia
*   Chronic lymphocytic thyroiditis - See Hashimoto's syndrome
* Chronic Marchiafava-Bignami syndrome - See Marchiafava Bignami disease
* Chronic mesenteric ischemia (subtype) - See Mesenteric artery ischemia
* Chronic multifocal osteomyelitis - See Chronic recurrent multifocal osteomyelitis
* Chronic multifocal osteomyolitis in ML - See Infantile recurrent chronic multifocal osteomyolitis
* Chronic myelogenous leukemia - See Chronic myeloid leukemia
* Chronic myeloid leukemia
* Chronic myelomonocytic leukemia
* Chronic myeloproliferative disorders
* Chronic neutrophilic leukemia
* Chronic othostatic intolerance - See Postural orthostatic tachycardia syndrome
*   Chronic peptic ulcer and esophagitis syndrome - See Barrett syndrome
* Chronic polyradiculoneuritis
* Chronic progressive external ophthalmoplegia
* Chronic progressive external ophthalmoplegia with myopathy - See Kearns Sayre syndrome
* Chronic pulmonary Berylliosis - See Berylliosis
* Chronic recurrent multifocal osteomyelitis
* Chronic recurrent multifocal osteomyelitis, congenital - See Majeed syndrome
* Chronic sensory ataxic neuropathy with anti-disialosyl antibodies - See CANOMAD syndrome
* Chronic silicosis - See Silicosis
* Chronic T-cell leukemia - See Leukemia, T-cell, chronic
* CHS - See Chediak-Higashi syndrome
* Chudley Lowry Hoar syndrome - See Mental retardation-hypotonic facies syndrome X-linked, 1
* Chudley mental retardation syndrome - See Mental retardation-hypotonic facies syndrome X-linked, 1
* Chudley Rozdilsky syndrome
* Chudley syndrome - See Chudley Rozdilsky syndrome
* Chudley syndrome 1 - See Mental retardation-hypotonic facies syndrome X-linked, 1
* Chudley-Mccullough syndrome
* Churg Strauss syndrome
* Churg-Strauss vasculitis - See Churg Strauss syndrome
* Chylomicron retention disease
* Chylomicronemia syndrome - See Hyperlipoproteinemia type 1
* Chylomicronemia, familial - See Hyperlipoproteinemia type 1
* Chylothorax, congenital
* Chylous ascites
* CIBD - See Cytomegalic inclusion disease
* Cicatricial pemphigoid
* Cicatricial pemphigoid of the Brunsting-Perry type - See Brunsting-Perry syndrome
* Cicatricial pemphigoid, ocular - See Ocular cicatricial pemphigoid
* CIDP - See Chronic inflammatory demyelinating polyneuropathy
* CIE - See Nonbullous congenital ichthyosiform erythroderma
* Ciguatera fish poisoning
* Ciguatera poisoning - See Ciguatera fish poisoning
* CIID - See ICF syndrome
* CIIP - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
* CIIP X-linked - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
* CIIPX - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
* Cilia with defective radial spokes - See Immotile cilia syndrome, due to defective radial spokes
* Ciliary discoordination, due to random ciliary orientation
* Ciliary dyskinesia primary - See Primary ciliary dyskinesia
* Ciliary dyskinesia with excessively long cilia
* Ciliary dyskinesia, due to transposition of ciliary microtubules
* Ciliary dyskinesia-bronchiectasis
* Cilliers-Beighton syndrome - See Beukes familial hip dysplasia
* CINCA - See Chronic Infantile Neurological Cutaneous Articular syndrome
* CINCA syndrome - See Chronic Infantile Neurological Cutaneous Articular syndrome
* CIPA - See Congenital insensitivity to pain with anhidrosis
* Circadian rhythm sleep disorder, free-running type - See Non 24 hour sleep wake disorder
* Circumscribed cutaneous aplasia of the vertex
* Circumscribed disseminated keratosis Jadassohn Lew type
* Circumscribed hairy dysembryoplasia of palms - See Hairy palms and soles
* Cirrhosis, familial, with deposition of abnormal glycogen - See Glycogen storage disease type 4
* Citrin deficiency - See Adult-onset citrullinemia type II
* Citrin deficiency - See Neonatal intrahepatic cholestasis caused by citrin deficiency
* Citrulline transport defect
* Citrullinemia 1 - See Citrullinemia type I
* Citrullinemia type 2 - See Adult-onset citrullinemia type II
* Citrullinemia type I
* Citrullinemia type II - See Adult-onset citrullinemia type II
* Citrullinuria - See Citrullinemia type I
* CJD - See Creutzfeldt-Jakob disease
* CK - See Chikungunya
* Cl. septicum infection - See Clostridium septicum infection
* CLAM - See Pontocerebellar hypoplasia type 3
* Clark-Baraitser syndrome
* Clarkson disease - See Systemic capillary leak syndrome
* Clasped thumb and mental retardation - See Spastic paraplegia 1
* Clasped thumbs, congenital
* Classic citrullinemia - See Citrullinemia type I
* Classic Ehlers-Danlos syndrome - See Ehlers-Danlos syndrome, classic type
*   Classic hemochromatosis - See Hemochromatosis type 1
* Classic hemophilia - See Hemophilia A, congenital
* Classic Kaposi sarcoma
* Classic late infantile CLN (type of CLN1) - See Ceroid lipofuscinosis neuronal 1
* Classic lissencephaly - See Lissencephaly 1
* CLCD - See Cleidocranial dysplasia
* CLD - See Congenital chloride diarrhea
* CLE - See Congenital lobar emphysema
* Clear cell adenoma - See Epithelial-myoepithelial carcinoma
* Clear cell carcinoma - See Epithelial-myoepithelial carcinoma
* Clear cell eccrine carcinoma - See Hidradenocarcinoma
* Clear cell ependymoma (histologic variant) - See Ependymoma
* Clear cell RCC - See Clear cell renal cell carcinoma
* Clear cell renal cell carcinoma
* Clear-cell metastatic renal cell carcinoma (subtype) - See Clear cell renal cell carcinoma
* Cleft hand absent tibia
* Cleft larynx, posterior - See Novak syndrome
* Cleft Limb Heart Malformation Syndrome - See Verloove Vanhorick Brubakk syndrome
* Cleft lip and palate malrotation cardiopathy
* Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation - See Pilotto syndrome
* Cleft lip and palate, lower lip pits, and limb deficiency defects - See Kuster syndrome
* Cleft lip and/or palate with mucous cysts of lower
* Cleft lip and/or palate with mucous cysts of lower lip - See Van der Woude syndrome
* Cleft lip palate dysmorphism Kumar type
* Cleft lip palate lip pits limb deficiency - See Kuster syndrome
* 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 progressive retinopathy - See Ausems Wittebol-Post Hennekam syndrome
* Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease - See McPherson Clemens syndrome
* Cleft lip/palate oligodontia syndactyly hair alterations - See Martinez Monasterio Pinheiro syndrome
* Cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies - See Popliteal pterygium syndrome
* Cleft lip/palate with abnormal thumbs and microcephaly - See Juberg-Hayward syndrome
* Cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly - See Acrofrontofacionasal dysostosis syndrome
* Cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus - See Crane-Heise syndrome
* Cleft lip/palate-ectodermal dysplasia syndrome - See Zlotogora syndrome
* Cleft lower lip cleft lateral canthi chorioretinal
* Cleft lower lip cleft lateral canthi chorioretinal degeneration - See Maumenee syndrome
* Cleft nare, brachydactyly, short stature dwarfism - See Berk-Tabatznik syndrome
* Cleft palate cardiac defect ectrodactyly
* Cleft palate colobomata radial synostosis deafness
* Cleft palate heart disease polydactyly absent tibia
* Cleft palate large ears small head - See Say syndrome
* Cleft palate lateral synechia syndrome
* Cleft palate short stature vertebral anomalies
* Cleft palate stapes fixation oligodontia
* Cleft palate X-linked
* Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects - See Seres-Santamaria Arimany Muniz syndrome
* Cleft palate, microcephaly, large ears, and short stature - See Say syndrome
* Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet, - See Ho Kaufman Mcalister syndrome
* Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
* Cleft palate-omphalocele syndrome, lethal - See Omphalocele cleft palate syndrome lethal
* Cleft spine - See Spina bifida
* Cleft tongue
* Cleft upper lip median cutaneous polyps
* Cleft, larynx posterior - See Laryngeal cleft
* Clefting, ectropion, and conical teeth - See Ectropion inferior cleft lip and or palate
* Cleido rhizomelic syndrome - See Cleidorhizomelic syndrome
* Cleidocranial dysostosis - See Cleidocranial dysplasia
* Cleidocranial dysplasia
* Cleidocranial dysplasia recessive form
* Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia - See Yunis Varon syndrome
* Cleidorhizomelic syndrome
* Clericuzio type poikiloderma with neutropenia - See Poikiloderma with neutropenia
* CLH Syndrome - See Verloove Vanhorick Brubakk syndrome
* C-like syndrome
* Clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations - See Microphthalmia syndromic 9
* CLIPPERS - See Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
* CLL - See Chronic lymphocytic leukemia
* CLM - See Cutaneous larva migrans
* CLN 9 - See Ceroid lipofuscinosis neuronal 9
* CLN1 - See Ceroid lipofuscinosis neuronal 1
* CLN1 variable age at onset - See Ceroid lipofuscinosis neuronal 1
* CLN10 - See Ceroid lipofuscinosis neuronal 10
* CLN2 - See Ceroid lipofuscinosis neuronal 2
* CLN3 - See Batten disease
* CLN4B - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
* CLN5 - See Ceroid lipofuscinosis neuronal 5
* CLN6 - See Ceroid lipofuscinosis neuronal 6
* CLN7 - See Ceroid lipofuscinosis neuronal 7
* CLN8 - See Northern Epilepsy
* Cloacal exstrophy
*   Closed spina bifida - See Spina bifida occulta
* Clostridium perfringens infection
* Clostridium septicum infection
* Clostridium sordellii infection
* Clostridium sordellii toxic shock syndrome - See Clostridium sordellii infection
* Clouston syndrome - See Ectodermal dysplasia 2, hidrotic
* Clouston's hidrotic ectodermal dysplasia - See Ectodermal dysplasia 2, hidrotic
* CLOVE syndrome - See CLOVES syndrome
* Cloverleaf skull and asphyxiating thoracic dysplasia - See Benallegue Lacete syndrome
* Cloverleaf skull generalised bone dysplasia - See Kozlowski Warren Fisher syndrome
* Cloverleaf skull syndrome - See Kleeblattschaedel syndrome
* Cloverleaf skull with thanatophoric dwarfism - See Thanatophoric dysplasia type 2
* CLOVES syndrome
* CLPED1 - See Zlotogora syndrome
* CLS - See Coffin-Lowry syndrome
*   Clubfoot - See Talipes equinovarus
*   Cluster headache
* Cluttering
* CMAMMA - See Combined malonic and methylmalonic aciduria
* CMAVM - See Capillary malformation-arteriovenous malformation syndrome
* CM-AVM syndrome - See Capillary malformation-arteriovenous malformation syndrome
* CMD - See Craniometaphyseal dysplasia, autosomal dominant
* CMD1 - See Campomelic dysplasia
* CMDD - See Craniometaphyseal dysplasia, autosomal dominant
* CMDJ - See Craniometaphyseal dysplasia, autosomal dominant
* CMDR - See Craniometaphyseal dysplasia, autosomal recessive type
* CML - See Chronic myeloid leukemia
* CML-like syndrome, familial - See Myelocytic leukemia-like syndrome, familial, chronic
* CMO - See Chronic recurrent multifocal osteomyelitis
* CMO 1 deficiency - See 18 Hydroxylase deficiency
* CMPD - See Campomelic dysplasia
* CMPD1 - See Campomelic dysplasia
* CMPD1/SRA1 - See Campomelic dysplasia
* CMRD - See Chylomicron retention disease
* CMS - See Congenital myasthenic syndrome
* CMS IIa - See Slow-channel congenital myasthenic syndrome
* CMS1A - See Congenital myasthenic syndrome with episodic apnea
* CMS1d - See Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
* CMS1D - See Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
* CMS2A - See Slow-channel congenital myasthenic syndrome
* CMS-EA - See Congenital myasthenic syndrome with episodic apnea
* CMT - See Charcot-Marie-Tooth disease
* CMT 1A - See Charcot-Marie-Tooth disease type 1A
* CMT 1B - See Charcot-Marie-Tooth disease type 1B
* CMT 1C - See Charcot-Marie-Tooth disease type 1C
* CMT 1D - See Charcot-Marie-Tooth disease type 1D
* CMT 1E - See Charcot-Marie-Tooth disease type 1E
* CMT 1F - See Charcot-Marie-Tooth disease type 1F
* CMT 2A - See Charcot-Marie-Tooth disease type 2A
* CMT 2B - See Charcot-Marie-Tooth disease type 2B
* CMT 2B1 - See Charcot-Marie-Tooth disease type 2B1
* CMT 2B2 - See Charcot-Marie-Tooth disease type 2B2
* CMT 2C - See Charcot-Marie-Tooth disease type 2C
* CMT 2D - See Charcot-Marie-Tooth disease type 2D
* CMT 2E - See Charcot-Marie-Tooth disease type 2E
* CMT 2F - See Charcot-Marie-Tooth disease type 2F
* CMT 2G - See Charcot-Marie-Tooth disease type 2G
* CMT 2H - See Charcot-Marie-Tooth disease type 2H
* CMT 2I - See Charcot-Marie-Tooth disease type 2I
* CMT 2J - See Charcot-Marie-Tooth disease type 2J
* CMT 2K - See Charcot-Marie-Tooth disease type 2K
* CMT 4B - See Charcot-Marie-Tooth disease type 4B1
* CMT 4B1 - See Charcot-Marie-Tooth disease type 4B1
* CMT 4B2 - See Charcot-Marie-Tooth disease type 4B2
* CMT 4B2, with early-onset glaucoma - See Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
* CMT 4C - See Charcot-Marie-Tooth disease type 4C
* CMT 4E - See Charcot-Marie-Tooth disease type 4E
* CMT DI1 - See Charcot-Marie-Tooth disease dominant intermediate 1
* CMT DI2 - See Charcot-Marie-Tooth disease dominant intermediate 2
* CMT DI3 - See Charcot-Marie-Tooth disease dominant intermediate 3
* CMT with pyramidal features - See Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant
* CMT3 - See Hypertrophic neuropathy of Dejerine-Sottas
* CMT4A - See Charcot-Marie-Tooth disease type 4A
* CMT4D - See Neuropathy, hereditary motor and sensory, LOM type
* CMT4E - See Charcot-Marie-Tooth disease type 4E
* CMT4F - See Hypertrophic neuropathy of Dejerine-Sottas
* CMT4G - See Neuropathy, hereditary motor and sensory, Russe type
* CMT4G - See Neuropathy, hereditary motor and sensory, Russe type
* CMTC - See Cutis marmorata telangiectatica congenita
* CMTDIE - See Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
* CMTX - See Charcot-Marie-Tooth disease X-linked 1
* CMTX 1 - See Charcot-Marie-Tooth disease X-linked 1
* CMTX 2 - See Charcot-Marie-Tooth disease X-linked recessive 2
* CMTX 3 - See Charcot-Marie-Tooth disease X-linked recessive 3
* CMTX 4 - See Cowchock syndrome
* CMTX5 - See X-linked Charcot-Marie-Tooth disease type 5
* CMV antenatal infection
* CNC1 - See Carney complex
* CND - See Dermoids of cornea
* CNF - See Congenital nephrotic syndrome Finnish type
* CNL - See Chronic neutrophilic leukemia
* CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr - See Neuroaxonal dystrophy renal tubular acidosis
* CNS tumors with Familial polyposis of the colon - See Turcot syndrome
* CNV - See Cutaneous necrotizing vasculitis
* COA Syndrome - See Wildervanck syndrome
* COACH syndrome
* Coagulation factor 12 deficiency - See Factor XII deficiency
* Coal worker's pneumoconiosis
* Coarctation of the aorta - See Aortic coarctation
* Coarse face hypotonia constipation
* Coarse, dry, lusterless hair which breaks off easily - See Pili torti
* Coats disease
* Cobalamin C disease - See Methylmalonic acidemia and homocystinuria cblC type
* Cobalamin pseudodeficiency due to transcobalamin deficiency - See Transcobalamin 1 deficiency
* Cobalamin r binder protein deficiency - See Transcobalamin 1 deficiency
* Cobb syndrome
* COCA1 - See Lynch syndrome
* Cocaine antenatal infection
* Cocaine fetopathy - See Cocaine antenatal infection
* Coccidioides immitis infection - See Coccidioidomycosis
* Coccidioidomycosis
* Coccidiosis - See Coccidioidomycosis
* Coccydynia - See Coccygodynia
* Coccygodynia
* Cochin Jewish disorder - See Haim-Munk syndrome
* Cochleosaccular degeneration of the inner ear and progressive cataracts
* Cockayne syndrome
* Cockayne syndrome type 1 - See Cockayne syndrome type I
* Cockayne syndrome type 2 - See Cockayne syndrome type II
* Cockayne syndrome type I
* Cockayne syndrome classic form - See Cockayne syndrome type I
* Cockayne syndrome classical - See Cockayne syndrome type I
* Cockayne syndrome type 3 - See Cockayne syndrome type III
* Cockayne syndrome type A - See Cockayne syndrome type I
* Cockayne syndrome type B - See Cockayne syndrome type II
* Cockayne syndrome type C - See Cockayne syndrome type III
* Cockayne syndrome type II
* Cockayne syndrome type III
* Cockayne's syndrome - See Cockayne syndrome
* Cockett syndrome - See May–Thurner syndrome
* COD1 - See Cone-rod dystrophy X-linked 1
* COD2 - See Cone-rod dystrophy X-linked 2
* CODAS syndrome
* COD-MD syndrome - See Walker-Warburg syndrome
*   Coeliac disease - See Celiac disease
* Coenzyme Q cytochrome c reductase deficiency of
* Coenzyme Q10 deficiency
* Coffin syndrome - See Coffin-Lowry syndrome
* Coffin syndrome 1
* Coffin-Lowry syndrome
* Coffin-Siris syndrome
* COFS 1 - See Cockayne syndrome type II
* COFS syndrome - See Cerebro-oculo-facio-skeletal syndrome
* COFS syndrome 1 - See Cockayne syndrome type II
* Cogan corneal dystrophy - See Epithelial basement membrane corneal dystrophy
* Cogan syndrome - See Cogan's syndrome
* Cogan-Reese syndrome
* Cogan's syndrome
* Cogan's syndrome type 2 - See Oculomotor apraxia Cogan type
* COH1 - See Cohen syndrome
* Cohen Hayden syndrome
* Cohen Lockood Wyborney syndrome
* Cohen syndrome
* COL2A1 - See Collagenopathy type 2 alpha 1
* Colavita Kozlowski syndrome - See Short limb dwarf lethal Colavita Kozlowski type
* Cold agglutinin disease
* Cold antibody disease - See Cold agglutinin disease
* Cold antibody hemolytic anemia - See Cold agglutinin disease
* Cold contact urticaria
* Cold-induced painful or pruritic erythematous or violaceous acral papular or nodular lesions - See Perniosis
* Cole Carpenter syndrome
* Cole-Hughes syndrome - See Macrocephaly, benign familial
* Collagen II - See Collagenopathy type 2 alpha 1
* Collagenopathy type 2 alpha 1
*   Collagenous colitis
* Collagenous gastritis
* Collagenous plaques of hand and feet - See Acrokeratoelastoidosis of Costa
* Collecting duct carcinoma
* Collecting duct carcinoma of the kidney - See Collecting duct carcinoma
* Collins Pope syndrome
* Collins Sakati syndrome
* Collodion fetus - See Ichthyosis lamellar 1
* Colloid cysts of third ventricle
* Coloboma chorioretinal cerebellar vermis aplasia
* Coloboma of alar-nasal cartilages with telecanthus
* Coloboma of choroid and retina - See Retinochoroidal coloboma
* Coloboma of eye lens
* Coloboma of iris
* Coloboma of macula
* Coloboma of macula with type B brachydactyly
* Coloboma of optic nerve
* Coloboma of optic nerve with renal disease - See Renal coloboma syndrome
* Coloboma of optic papilla
* Coloboma porencephaly hydronephrosis
* Coloboma, cleft lip/palate and mental retardation syndrome
* Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies - See CHARGE syndrome
* Coloboma-microphthalmos syndrome - See Coloboma, cleft lip/palate and mental retardation syndrome
* Coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate - See Coloboma, cleft lip/palate and mental retardation syndrome
* Colobomata unilobar lung heart defect
* Colobomatous microphthalmia heart disease hearing
* Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-- - See Hittner Hirsch Kreh syndrome
* Colon cancer, familial nonpolyposis - See Lynch syndrome
* Colonic atresia
* Colonic malakoplakia
* Colonic type adenocarcinoma - See Adenocarcinoma of the appendix
* Color blindness blue mono cone monochromatic type - See Blue cone monochromatism
* Colorblindness, total - See Achromatopsia 2
* Colorectal cancer, childhood
* Colorectal cancer, familial - See Familial colorectal cancer
* Colorectal cancer, hereditary nonpolyposis - See Lynch syndrome
* Colpocephaly
*   Columnar-like esophagus - See Barrett syndrome
* Colver Steer Godman syndrome
* COMA - See Oculomotor apraxia Cogan type
* Coma basedovicum - See Basedow's coma
* Combarros Calleja Leno syndrome
* Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis - See Raine syndrome
* Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase - See Molybdenum cofactor deficiency
* Combined granular-lattice corneal dystrophies - See Corneal dystrophy Avellino type
* Combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
* Combined malonic and methylmalonic aciduria
* Combined variable immune deficiency - See Common variable immunodeficiency
* Common atrioventricular canal - See Complete atrioventricular canal
* Common ichthyosis - See Ichthyosis vulgaris
* Common variable hypogamma-globulinemia - See Common variable immunodeficiency
* Common variable immune deficiency - See Common variable immunodeficiency
* Common variable immunodeficiency
* Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts - See HEC syndrome
* Compartment syndrome
* Complement component 2 deficiency
* Complement component 5 deficiency - See Leiner disease
* Complement component 8 deficiency type 1
* Complement component 8 deficiency type 2
* Complement component 8 deficiency type I - See Complement component 8 deficiency type 1
* Complement component 8 deficiency type II - See Complement component 8 deficiency type 2
* Complement component deficiency
* Complement component receptor 1
* Complement receptor deficiency
* Complete absence of breasts - See Absent breasts and nipples
* Complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet - See Ulnar hypoplasia lobster claw deformity of feet
* Complete agenesis of the dorsal pancreas - See Agenesis of the dorsal pancreas
* Complete androgen insensitivity syndrome
* Complete atrioventricular canal
* Complete atrioventricular septal defect - See Complete atrioventricular canal
* Complete trisomy 13 syndrome - See Trisomy 13
* Complex 1 mitochondrial respiratory chain deficiency - See Mitochondrial complex I deficiency
* Complex 2 mitochondrial respiratory chain deficiency - See Mitochondrial complex II deficiency
* Complex 3 mitochondrial respiratory chain deficiency - See Mitochondrial complex III deficiency
* Complex 4 mitochondrial respiratory chain deficiency - See Mitochondrial complex IV deficiency
* Complex 5 mitochondrial respiratory chain deficiency - See Mitochondrial complex V deficiency
* Complex carbohydrate intolerance - See Glucose-galactose malabsorption
* Complex congenital heart defect, renal agenesis and cleft lip and palate - See Holzgreve syndrome
* Complex familial seizure disorder - See Kifafa seizure disorder
* Complex IV deficiency - See Mitochondrial complex IV deficiency
* Complex malformation syndrome with brachymesomelia - See Le Marec Bracq Picaud syndrome
* Complex of anomalies involving the cranium and brain - See Craniotelencephalic dysplasia
* Complex regional pain syndrome
* COND - See Hutterite cerebroosteonephrodysplasia syndrome
* Condensing osteitis of the clavicle
* Condensing osteitis of the medial clavicle - See Condensing osteitis of the clavicle
* Conductive deafness - malformed external ear - See Conductive deafness with malformed external ear
* Conductive deafness with malformed external ear
* Conductive hearing loss and malformed low-set ears - See Conductive deafness with malformed external ear
* Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia - See Thickened earlobes with conductive deafness from incus-stapes abnormalities
* Cone dystrophy
* Cone dystrophy autosomal dominant - See Retinal cone dystrophy 1
* Cone dystrophy progressive - See Retinal cone dystrophy 2
* Cone dystrophy with night blindness and supernormal rod responses KCNV2 related - See Retinal cone dystrophy 3B
* Cone dystrophy with night blindness and supernormal rod responses PDE6H-related - See Retinal cone dystrophy 3A
* Cone dystrophy X-linked 1 - See Cone-rod dystrophy X-linked 1
* Cone dystrophy X-linked 2 - See Cone-rod dystrophy X-linked 2
* Cone dystrophy X-linked with tapetal-like sheen
* Cone-rod degeneration X-linked - See Retinitis Pigmentosa 15
* Cone-rod dystrophy
* Cone-rod dystrophy 1
* Cone-rod dystrophy 2
* Cone-rod dystrophy 3
* Cone-rod dystrophy 5
* Cone-rod dystrophy 6
* Cone-rod dystrophy amelogenesis imperfecta
* Cone-rod dystrophy with amelogenesis imperfecta - See Cone-rod dystrophy amelogenesis imperfecta
* Cone-rod dystrophy X-linked 1
* Cone-rod dystrophy X-linked 2
* Cone-rod dystrophy X-linked 3
* Cone-rod retinal dystrophy 2 - See Cone-rod dystrophy 2
* Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies - See Ablepharon macrostomia syndrome
* Congenital absence of gluteal muscles - See Absence of gluteal muscle
* Congenital absence of insulin-producing beta cells with diabetes mellitus - See Pancreatic beta cell agenesis with neonatal diabetes mellitus
* Congenital absence of nose and anterior nasopharynx - See Arhinia choanal atresia microphthalmia
* Congenital absence of skin on the upper or lower limbs - See Aplasia cutis congenita of limbs recessive
* Congenital absence of testes - See Anorchia
* Congenital absence of the heart - See Acardia
* Congenital absence of the nose - See Arrhinia
* Congenital absence of the pulmonary artery - See Unilateral absence of a pulmonary artery
* Congenital absence of the rods and cones - See Leber congenital amaurosis
* Congenital absence of the sternocleidomastoid muscle
* Congenital absence of the uterus and vagina - See Mayer-Rokitansky-Kuster-Hauser syndrome
* Congenital adrenal hyperplasia
* Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - See 11-beta-hydroxylase deficiency
* Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - See 17-alpha-hydroxylase deficiency
* Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - See 21-hydroxylase deficiency
* Congenital adrenal hyperplasia lipoid - See Congenital lipoid adrenal hyperplasia
* Congenital adrenal hyperplasia type 5 - See 17-alpha-hydroxylase deficiency
* Congenital adrenal hypoplasia - See X-linked adrenal hypoplasia congenita
* Congenital afibrinogenemia - See Afibrinogenemia
* Congenital agenesis of the tricuspid valve - See Tricuspid atresia
* Congenital aleukia - See Reticular dysgenesis
* Congenital alopecia - See Congenital alopecia X-linked
* Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
* Congenital alopecia X-linked
* Congenital alveolar capillary dysplasia - See Alveolar capillary dysplasia
* Congenital amegakaryocytic thrombocytopenia
* Congenital amputation
* Congenital aneurysms of the great vessels
* Congenital anomalies, involving mainly the face, thorax, and genitalia - See Facio thoraco genital syndrome
* Congenital anosmia
* Congenital antithrombin deficiency
* Congenital antithrombin deficiency type 2
* Congenital antithrombin deficiency type 3
* Congenital Antithrombin III Deficiency - See Congenital antithrombin deficiency type 3
* Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy - See Hamanishi Ueba Tsuji syndrome
* Congenital aplastic anemia
* Congenital arteriovenous shunt
* Congenital arthromyodysplasia - See Arthrogryposis multiplex congenita
* Congenital articular rigidity
* Congenital AT-III deficiency - See Congenital antithrombin deficiency type 3
* Congenital atresia of the small intestine - See Atresia of small intestine
* Congenital atrophoderma of Pasini and Pierini - See Atrophoderma of Pierini and Pasini
* Congenital benign spinal muscular atrophy dominant
* Congenital betalipoprotein deficiency syndrome - See Abetalipoproteinemia
* Congenital bilateral absence of the vas deferens
* Congenital bilateral aplasia of vas deferens - See Congenital bilateral absence of the vas deferens
* Congenital bilateral metadiaphyseal acrodysplasia of the little finger - See Dystelephalangy
* Congenital bilateral perisylvian syndrome - See Bilateral perisylvian polymicrogyria
* Congenital bilateral recurrent nerve paralysis and ptosis - See Tucker syndrome
* Congenital bowing with short bones - See Kyphomelic dysplasia
* Congenital bronchobiliary fistula
* Congenital bullous ichthyosiform erythroderma - See Epidermolytic hyperkeratosis
* Congenital bullous poikiloderma - See Kindler syndrome
* Congenital cardiovascular shunt
* Congenital cataract - microphthalmia - See Microphthalmia cataract
* Congenital cataract with multiple congenital anomalies in a sibship - See Karandikar Maria Kamble syndrome
* Congenital cataracts, renal tubular necrosis and encephalopathy in two sisters - See Crome syndrome
* Congenital central hypoventilation syndrome
* Congenital cerebral granulomas - See Granulomas, congenital cerebral
* Congenital chloride diarrhea
* Congenital chloridorrhea - See Congenital chloride diarrhea
* Congenital choledochal cyst - See Bile duct cysts
* Congenital cholesteatoma (type) - See Cholesteatoma
* Congenital chylous ascites - See Chylous ascites
* Congenital coloboma of the optic nerve - See Coloboma of optic nerve
* Congenital constricting bands - See Amniotic band syndrome
* Congenital contractural arachnodactyly
* Congenital contractures
* Congenital contractures of the digits - See Windblown hand
* Congenital contractures with major involvement of the hands and feet - See Arthrogryposis multiplex congenita, distal type 2
* Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment - See Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
* Congenital convex pes valgus - See Vertical talus, congenital
* Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation - See Ramos Arroyo Clark syndrome
* Congenital corneal dystrophy, progressive sensorineural deafness - See Corneal dystrophy and perceptive deafness
* Congenital coxa vara, patella aplasia and tarsal synostosis - See Small patella syndrome
* Congenital craniosynostosis maternal hyperthyroiditis
* Congenital cutaneous multifocal kaposiform hemangioendothelioma - See Kaposiform Hemangioendothelioma
* Congenital cutaneous neurilemmomatosis - See Schwannomatosis
* Congenital cystic adenomatoid malformation - See Cystic adenomatoid malformation of lung
* Congenital cystic eye
* Congenital cystic eye multiple ocular and intracranial anomalies
* Congenital cytomegalovirus
* Congenital deafness with inner ear agenesis microtia and microdontia - See Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
* Congenital deafness with vitiligo and achalasia
* Congenital defect of skull and scalp - See Aplasia cutis congenita
* Congenital deformity of the thumb and congenital alopecia - See Thumb deformity, alopecia, pigmentation anomaly
* Congenital diaphragmatic defect - See Congenital diaphragmatic hernia
* 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 2A
* Congenital disorder of glycosylation type 2B
* Congenital disorder of glycosylation type 2C
* Congenital disorder of glycosylation type 2D
* Congenital disorder of glycosylation type 2E
* Congenital disorder of glycosylation type 2G
* Congenital disorder of glycosylation type I/IIX
* Congenital disorder of glycosylation type IIL
* Congenital disorder of glycosylation, type IIl - See Congenital disorder of glycosylation type IIL
* Congenital disorders of glycosylation
* Congenital dyserythropoietic anemia
* Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis - See Majeed syndrome
* Congenital dyserythropoietic anemia type 1
* Congenital dyserythropoietic anemia type 2
* Congenital dyserythropoietic anemia type 3
* Congenital dysfibrinogenemia - See Dysfibrinogenemia
*   Congenital dysplasia of hip - See Developmental dysplasia of hip
* Congenital ectodermal dysplasia with hearing loss
* Congenital enteropathy - See Tufting enteropathy
* Congenital erythropoietic porphyria - See Congenital porphyria
* Congenital exfoliative erythroderma resistant to treatment - See Erythroderma lethal congenital
* Congenital extrahepatic portosystemic shunt
* Congenital extraocular muscle fibrosis with ulnar hand anomalies - See Tukel syndrome
* Congenital eye malformation in which the pupils are displaced from their normal central position - See Ectopia pupillae
* Congenital facial diplegia - See Moebius syndrome
* Congenital facial diplegia syndrome - See Moebius syndrome
* Congenital facial linear porokeratosis (type) - See Linear porokeratosis
* Congenital factor II deficiency - See Inherited hypoprothrombinemia
* Congenital Factor XIII deficiency - See Factor XIII deficiency
* Congenital failure of autonomic control - See Congenital central hypoventilation syndrome
* Congenital familial hypertrophic synovitis - See Camptodactyly arthropathy coxa vara pericarditis syndrome
* Congenital familial intractable diarrhea with enterocytes assembly abnormalities - See Tufting enteropathy
* Congenital familial protracted diarrhea - See Microvillus inclusion disease
* Congenital familial protracted diarrhea with enterocyte brush-border abnormalities - See Microvillus inclusion disease
* Congenital fiber type disproportion
* Congenital fiber-type disproportion myopathy - See Congenital fiber type disproportion
* Congenital fibrinogen deficiency - See Fibrinogen deficiency, congenital
* Congenital filiform fusion of the eyelids with cleft palate and/or cleft lip - See Ankyloblepharon filiforme adnatum cleft palate
* Congenital fissure of the abdominal cavity - See Gastroschisis
* Congenital Foix-Chavany-Marie syndrome (subtype) - See Foix Chavany Marie syndrome
* Congenital generalized fibromatosis
* Congenital generalized lipodystrophy type 1
* Congenital generalized lipodystrophy type 2
* Congenital generalized lipodystrophy type 4
* Congenital giant megaureter
* Congenital giant pigmented nevus - See Giant congenital nevus
* Congenital glaucoma and Friedreich ataxia - See Friedreich ataxia congenital glaucoma
* Congenital glaucoma, flexion contracture of fingers and facial dysmorphism without peroxisomal abnormalities - See Bowen syndrome
* Congenital glutamine deficiency - See Glutamine deficiency, congenital
* Congenital hairy nevus - See Giant congenital nevus
* Congenital heart block
* Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure - See Cardiofaciocutaneous syndrome
* Congenital heart defects, hamartomas of tongue, and polysyndactyly - See Orstavik Lindemann Solberg syndrome
* Congenital heart disease ptosis hypodontia craniostosis
* Congenital heart disease radio ulnar synostosis mental retardation
* Congenital heart disease, deafness, and skeletal malformations - See Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
* Congenital heart disease, ptosis, hypodontia, and craniosynostosis - See Mehta Lewis Patton syndrome
* Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects - See CHILD syndrome
* Congenital hemolytic anemia
* Congenital hepatic fibrosis
* Congenital hereditary endothelial dystrophy of the cornea - See Corneal endothelial dystrophy type 2
* Congenital hereditary hematuria - See Alport syndrome
* Congenital hereditary lymphedema - See Milroy disease
* Congenital hereditary vertical nystagmus - See Nystagmus, hereditary vertical
* Congenital herpes simplex
* Congenital HIV - See Congenital human immunodeficiency virus
* Congenital human immunodeficiency virus
* Congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism - See Hydrocephalus obesity hypogonadism
* Congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation - See Okamoto syndrome
* Congenital hyperinsulinism - See Familial hyperinsulinism
* Congenital hypertrichosis lanuginosa - See Hypertrichosis lanuginosa congenita
* Congenital hypomelanotic and hypermelanotic macules - See Macules hereditary congenital hypopigmented and hyperpigmented
* Congenital hypomyelinating neuropathy (CHN) - See Charcot-Marie-Tooth disease type 4E
* Congenital hypomyelination neuropathy
* Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita - See Boylan Dew Greco syndrome
* Congenital hypopituitarism and microphthalmia - See Kaplowitz Bodurtha syndrome
* Congenital hypoplastic anemia - See Diamond-Blackfan anemia
* Congenital hypothyroidism
* Congenital hypotrichosis milia
* Congenital ichthyosiform erythroderma - See Nonbullous congenital ichthyosiform erythroderma
* Congenital ichthyosis with biliary atresia - See Ichthyosis congenita biliary atresia
* Congenital ichthyosis, mental retardation, dwarfism and renal impairment - See Ichthyosis mental retardation dwarfism renal impairment
* Congenital ichthyosis, microcephalus, quadriplegia
* Congenital idiopathic intestinal pseudoobstruction - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
* Congenital insensitivity to pain with anhidrosis
* Congenital isolated ACTH deficiency - See Isolated ACTH deficiency
* Congenital Isolated nail dysplasia - See Nail dysplasia, isolated congenital
* Congenital koilonychia - See Hereditary koilonychia
* Congenital laryngeal clefts (subtype) - See Laryngeal cleft
* Congenital laryngeal stridor - See Laryngomalacia
* Congenital laryngomalacia - See Laryngomalacia
* Congenital lipoatrophic diabetes - See Congenital generalized lipodystrophy type 2
* Congenital lipoid adrenal hyperplasia
* Congenital lipomatosis of pancreas - See Shwachman-Diamond syndrome
* Congenital lipomatous overgrowth - vascular malformation - epidermal nevi - See CLOVES syndrome
* Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi - See CLOVES syndrome
* Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities - See CLOVES syndrome
* Congenital lobar emphysema
* Congenital lung agenesis - See Lung agenesis
* Congenital lupus - See Neonatal systemic lupus erythematosus
* Congenital lupus erythematosus - See Neonatal systemic lupus erythematosus
* Congenital macroglossia - See Macroglossia
* Congenital MD - See Congenital muscular dystrophy
* Congenital megalo-ureter
* Congenital melanocytosis with myelomeningocele and hydrocephalus - See Schwartz Cohen-Addad Lambert syndrome
* Congenital mesoblastic nephroma
* Congenital MG - See Myasthenia gravis congenital
* Congenital microcoria - See Microcoria, congenital
* Congenital microgastria and limb reduction defects - See Microgastria limb reduction defect
* Congenital microvillous atrophy - See Microvillus inclusion disease
* Congenital miosis - See Microcoria, congenital
* Congenital mitral malformation
* Congenital mitral stenosis
* Congenital mixovirus
* Congenital multiple arthrogryposis - See Arthrogryposis multiplex congenita
* Congenital mumps
* Congenital muscular dystrophy
* Congenital muscular dystrophy syringomyelia
* Congenital muscular dystrophy type 1A
* Congenital muscular torticollis - See Congenital torticollis
* Congenital Myasthenia - See Congenital myasthenic syndrome
* Congenital myasthenic syndrome
* Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
* Congenital myasthenic syndrome type 1a - See Congenital myasthenic syndrome with episodic apnea
* Congenital myasthenic syndrome with episodic apnea
* Congenital myopathy - See Myopathy congenital
* Congenital myopathy cleft palate and malignant hyperthermia - See Native American myopathy
* Congenital myopathy with caps - See Cap myopathy
* Congenital myotonic dystrophy
* Congenital nephrotic syndrome 1 - See Congenital nephrotic syndrome Finnish type
* Congenital nephrotic syndrome Finnish type
* Congenital nonhemolytic jaundice
* Congenital nonprogressive myopathy with Moebius and Robin sequences
* Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex - See Neuropathy, congenital, with arthrogryposis multiplex
* Congenital nuclear cataract, autosomal recessive - See Autosomal recessive nonsyndromic congenital nuclear cataract
* Congenital oculofacial paralysis - See Moebius syndrome
* Congenital oculomotor apraxia - See Oculomotor apraxia Cogan type
* Congenital Ondine curse - See Congenital central hypoventilation syndrome
* Congenital optic atrophy and brachytelephalangy - See Berk-Tabatznik syndrome
* Congenital pachyonychia - See Pachyonychia congenita
* Congenital pancreatic agenesis - See Pancreatic agenesis
* Congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease - See Yorifuji Okuno syndrome
* Congenital PAP - See Congenital pulmonary alveolar proteinosis
* Congenital partial atresia of the larynx - See Larynx, congenital partial atresia of
* Congenital patellar dislocation - See Congenital dislocation of the patella
* Congenital pernicious anemia due to defect of intrinsic factor - See Intrinsic factor deficiency
* Congenital polycystic dilatation of intrahepatic bile ducts - See Caroli disease
* Congenital porphyria
* Congenital primary aphakia
* Congenital profound sensorineural deafness and oligodontia - See Deafness oligodontia syndrome
* Congenital pseudoarthrosis
* Congenital ptosis and posterior fusion of lumbosacral vertebrae - See Vertebral fusion posterior lumbosacral blepharoptosis
* Congenital pulmonary alveolar proteinosis
* Congenital pulmonary lymphangiectasia
* Congenital radio-ulnar synostosis
* Congenital retinal blindness - See Leber congenital amaurosis
* Congenital rod disease - See Nemaline myopathy
* Congenital rubella
* Congenital rubella syndrome - See Congenital rubella
* Congenital scalp defects associated with postaxial polydactyly - See Scalp defects postaxial polydactyly
* Congenital scalp defects with distal limb anomalies - See Adams Oliver syndrome
* Congenital short femur
* Congenital short pancreas - See Agenesis of the dorsal pancreas
* Congenital shortness of the costocoracoid ligament - See Costocoracoid ligament congenitally short
* Congenital sideroblastic anemia - See X-linked sideroblastic anemia
* Congenital spherocytic hemolytic anemia - See Hereditary spherocytosis
* Congenital spherocytosis - See Hereditary spherocytosis
* Congenital stationary night blindness with myopia - See X-linked congenital stationary night blindness
* Congenital stenosis of cervical medullary canal
* Congenital sternal cleft - See Sternal cleft
* Congenital sucrase-isomaltase deficiency
* Congenital sucrose isomaltose malabsorption
* Congenital sucrose-isomaltase malabsorption - See Congenital sucrase-isomaltase deficiency
* Congenital suprabulbar paresis - See Worster Drought syndrome
*   Congenital Talipes Equinovarus - See Talipes equinovarus
* Congenital Telangiectatic Erythema - See Bloom syndrome
* Congenital testicular deficiency - See Sohval Soffer syndrome
* Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay - See Thrombocytopenia Robin sequence
* Congenital torticollis
*   Congenital toxoplasmosis
* Congenital tracheal agenesis - See Tracheal agenesis
* Congenital tracheal stenosis
* Congenital tracheobronchomegaly - See Mounier-Kuhn syndrome
* Congenital tracheomalacia
* Congenital transposition of the penis - See Penoscrotal transposition
* Congenital trigger thumb (type) - See Trigger thumb
* Congenital ulnar drift - See Windblown hand
* Congenital unilateral pulmonary hypoplasia
* Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea - See Alopecia, epilepsy, pyorrhea, mental subnormality
* Congenital upward displacement of the scapula - See Sprengel deformity
* Congenital vagal hyperreflexivity
* Congenital varicella syndrome
* Congenital velopharyngeal incompetence - See Palatopharyngeal incompetence
* Congenital vertical talus - See Vertical talus, congenital
* Congenital warfarin syndrome - See Warfarin syndrome
* Congenitally corrected transposition of the great arteries
* Congenitally corrected transposition of the great vessels - See Congenitally corrected transposition of the great arteries
* Conical teeth - See Hutchinson incisors
* Conjugate gaze palsy - See Supranuclear ocular palsy
* Conjugated Hyperbilirubinemia - See Dubin-Johnson syndrome
* Conjunctival melanoma
* Conjunctivitis ligneous
* Conjunctivitis with Pseudomembrane
* Connective tissue disorder Marden Walker type - See Marden-Walker syndrome
* Connective tissue dysplasia Spellacy type
* Connexin 26 deafness - See DFNB1
* Conn's syndrome
* Conorenal syndrome - See Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
* Conotruncal anomaly face syndrome - See 22q11.2 deletion syndrome
* Conotruncal cardiac defects - See Conotruncal heart malformations
* Conotruncal heart malformations
* Conrad Hunermann Happle syndrome - See Chondrodysplasia punctata 2 X-linked dominant
* Conradi Hunermann syndrome - See Chondrodysplasia punctata 2 X-linked dominant
* Constitutional megaloblastic anemia with severe neurologic disease - See Megaloblastic anemia due to dihydrofolate reductase deficiency
* Constrictive bronchiolitis - See Bronchiolitis obliterans organizing pneumonia
* Continuous muscle fiber activity hereditary
* Continuous muscle fiber activity syndrome - See Isaac's syndrome
* Continuous spike-wave during slow sleep syndrome
* Contractural arachnodactyly - See Marfan syndrome
* Contractures ectodermal dysplasia cleft lip palate - See Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
* Contractures of feet, muscle atrophy, and oculomotor apraxia - See Wieacker syndrome
* Contractures of fingers and jaw - See Arthrogryposis, distal, type 2E
* Contractures, multiple with arachnodactyly - See Congenital contractural arachnodactyly
* Conversion disorder
* Convulsions benign familial neonatal - See Benign familial neonatal-infantile seizures
* Convulsions benign familial neonatal dominant form
* Convulsions, benign familial infantile, 1
* Convulsions, benign familial neonatal with Myokymia - See Myokymia with neonatal epilepsy
* Convulsions, infantile, with paroxysmal choreoathetosis, familial - See Infantile convulsions and paroxysmal choreoathetosis, familial
* Cooks syndrome - See Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
* Cooley's anemia - See Beta-thalassemia
* COP - See Cryptogenic organizing pneumonia
* Copper deficiency, familial benign
* Copper transport disease - See Menkes disease
* Coproporphyria - See Hereditary coproporphyria
* Coproporphyria hereditary - See Hereditary coproporphyria
* Coproporphyrinogen oxidase deficiency - See Hereditary coproporphyria
* CoQ10 deficiency - See Coenzyme Q10 deficiency
* CoQ10 deficiency, primary - See Coenzyme Q10 deficiency
* CoQ-responsive OXPHOS deficiency
* Cor biloculare
* Cor triatriatum
* Cor triatriatum sinistrum - See Cor triatriatum
* CORD1 - See Cone-rod dystrophy 1
* CORD2 - See Cone-rod dystrophy 2
* CORD3 - See Cone-rod dystrophy 3
* CORD5 - See Cone-rod dystrophy 5
* CORDX1 - See Cone-rod dystrophy X-linked 1
* CORDX2 - See Cone-rod dystrophy X-linked 2
* CORDX3 - See Cone-rod dystrophy X-linked 3
* Cori disease - See Glycogen storage disease type 3
* Cormier Rustin Munnich syndrome
* Cornea guttata with anterior polar cataract
* Corneal amyloidosis - See Amyloidosis corneal
* Corneal anesthesia deafness mental retardation
* Corneal cerebellar syndrome - See Spinocerebellar degeneration and corneal dystrophy
* Corneal clouding, cutis laxa and mental retardation - See De Barsy syndrome
* Corneal crystals myopathy and neuropathy - See Arnold Stickler Bourne syndrome
* Corneal crystals myopathy neuropathy
* Corneal dystrophy and perceptive deafness
* Corneal dystrophy and sensorineural deafness - See Corneal dystrophy and perceptive deafness
* Corneal dystrophy Avellino type
* Corneal dystrophy crystalline of Schnyder
* Corneal dystrophy epithelial and short stature - See Corneodermatoosseous syndrome
* Corneal dystrophy Fuchs endothelial 1
*   Corneal dystrophy Fuchs endothelial 2
* Corneal dystrophy Fuchs endothelial early-onset - See Corneal dystrophy Fuchs endothelial 1
*   Corneal dystrophy Fuchs endothelial late-onset - See Corneal dystrophy Fuchs endothelial 2
* Corneal dystrophy geographic - See Corneal dystrophy of Bowman layer type 1
* Corneal dystrophy granular type - See Groenouw type I corneal dystrophy
* Corneal dystrophy honeycomb shaped - See Corneal dystrophy Thiel Behnke type
* Corneal dystrophy ichthyosis microcephaly mental retardation
* Corneal dystrophy of Bowman layer type 1
* Corneal dystrophy of the Bowman layer type 2 - See Corneal dystrophy Thiel Behnke type
* Corneal dystrophy pigmentary anomaly malabsorption
* Corneal dystrophy punctate or nodular - See Groenouw type I corneal dystrophy
* Corneal dystrophy Reis Bucklers type - See Corneal dystrophy of Bowman layer type 1
* Corneal dystrophy Thiel Behnke type
* Corneal dystrophy with gum hypertrophy - See Rutherfurd syndrome
* Corneal dystrophy, anterior basement membrane - See Epithelial basement membrane corneal dystrophy
* Corneal dystrophy, congenital hereditary endothelial - See Corneal endothelial dystrophy type 2
* Corneal dystrophy, epithelial, with skin and skeletal changes - See Corneodermatoosseous syndrome
* Corneal dystrophy, gelatinous drop-like - See Amyloidosis corneal
* Corneal dystrophy, juvenile epithelial of Meesmann - See Meesmann corneal dystrophy
* Corneal dystrophy, lattice type 1 - See Lattice corneal dystrophy type 1
* Corneal dystrophy, Lattice type 3 - See Amyloidosis corneal
* Corneal dystrophy, macular type - See Macular dystrophy, corneal type 1
* Corneal endothelial dystrophy type 2
* Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility - See Brittle cornea syndrome
* Corneal hypesthesia, familial
* Corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation - See Mental retardation Mietens Weber type
* Cornelia de Lange syndrome
* Corneodermatoosseous syndrome
* Coronal dentin dysplasia - See Dentin dysplasia, coronal
* Coronal synostosis, syndactyly and jejunal atresia
* Coronaro-cardiac fistula
* Coronary arteries congenital malformation
* Coronary artery aneurysm
* Coronary sinus atrial septal defects - See Atrial septal defect coronary sinus
* Corpus callosum agenesis - See Agenesis of the corpus callosum
* Corpus callosum agenesis double urinary collecting
* Corpus callosum agenesis facial anomalies Robin sequence - See Toriello Carey syndrome
* Corpus callosum agenesis neuronopathy - See Andermann syndrome
* Corpus callosum agenesis of blepharophimosis Robin type
* Corpus callosum agenesis polysyndactyly - See Curry Jones syndrome
* Corpus callosum dysgenesis cleft spasm
* Corpus callosum dysgenesis hypopituitarism
* Corpus callosum dysgenesis X-linked recessive
* Corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation - See Microcephaly, corpus callosum dysgenesis and cleft lip-palate
* Corpus callosum, agenesis of, with abnormal genitalia - See Proud Levine Carpenter syndrome
* Corpus callosum, agenesis of, with chorioretinal abnormality - See Aicardi syndrome
* Corrected transposition - See Double discordia
* CORS1 - See Joubert syndrome
* CORS2 - See Joubert syndrome 2
* Cortada Koussef Matsumoto syndrome
* Cortes Lacassie syndrome
* Cortical blindness mental retardation polydactyly
* Cortical defects wormian bones and dentinogenesis imperfecta
* Cortical Degeneration of the Cerebellum - Parenchymatous - See Parenchymatous cortical degeneration of cerebellum
* Cortical dysplasia of Taylor - See Focal cortical dysplasia of Taylor
* Cortical hyperostosis with hyperphosphatemia - See Hyperostosis-hyperphosphatemia syndrome
* Cortical hyperostosis with syndactyly - See Sclerosteosis
* Cortical-Basal Ganglionic degeneration - See Corticobasal degeneration
* Corticobasal degeneration
* Cortico-Basal Ganglionic Degeneration (CBGD) - See Corticobasal degeneration
* Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin - See Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
* Corticosteroid-sensitive aseptic abscesses
* Corticosterone methyloxidase type 1 deficiency - See 18 Hydroxylase deficiency
* Corticotropin-independent macronodular adrenal hyperplasia - See ACTH-independent macronodular adrenal hyperplasia
* Cortisol 11-beta-ketoreductase deficiency - See Apparent mineralocorticoid excess
* Cortisone reductase deficiency
* Costeff optic atrophy syndrome - See 3-methylglutaconic aciduria type III
* Costeff syndrome - See 3-methylglutaconic aciduria type III
* Costello syndrome
* Costochondral junction syndrome - See Tietze syndrome
* Costocoracoid ligament congenitally short
* Costovertebral dysplasia - See Spondylocostal dysostosis 1
* Costovertebral segmentation anomalies - See Spondylocostal dysostosis 4
* Costovertebral segmentation defect with mesomelia (formerly) - See Robinow syndrome
* Cote Katsantoni syndrome
* Cough headache
* Coumarin syndrome - See Warfarin syndrome
* Cousin syndrome
* Covesdem syndrome (formerly) - See Robinow syndrome
* Cowchock syndrome
* Cowchock Wapner Kurtz syndrome - See Cystic hygroma lethal cleft palate
* Cowden disease - See Cowden syndrome
* Cowden syndrome
* Cowden's disease - See Cowden syndrome
* COX deficiency - See Mitochondrial complex IV deficiency
* Cox deficiency, French Canadian type - See Leigh syndrome, French Canadian type
* Cox deficiency, Saguenay Lac saint Jean type - See Leigh syndrome, French Canadian type
* COX1 DEFICIENCY - See PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
* Coxa plana - See Legg-Calve-Perthes disease
* Coxa vara, congenital
* Coxiella Burnetii fever - See Q fever
* Coxoauricular syndrome
* Coxo-podo-patellar syndrome - See Small patella syndrome
* CPA - See Congenital primary aphakia
* CPD3 - See Cerebelloparenchymal disorder 3
* CPD4 - See Joubert syndrome
* CPDIII - See Cerebelloparenchymal disorder 3
* CPEO - See Chronic progressive external ophthalmoplegia
* CPEO with myopathy - See Kearns Sayre syndrome
* CPEO with ragged red fibers - See Kearns Sayre syndrome
* CPHD1 - See Pituitary hormone deficiency, combined 1
* CPHD2 - See Pituitary hormone deficiency, combined 2
* CPHD3 - See Pituitary hormone deficiency, combined 3
* CPHD4 - See Pituitary hormone deficiency, combined 4
* CPL - See Congenital pulmonary lymphangiectasia
*   CPM - See Central pontine myelinolysis
* CPO deficiency - See Hereditary coproporphyria
* CPP4 - See Cataract, posterior polar, 4
* CPPDD - See Chondrocalcinosis 2
* CPRO deficiency - See Hereditary coproporphyria
* CPS 1 deficiency - See Carbamoyl phosphate synthetase 1 deficiency
* CPSQ4 (formerly) - See Spastic paraplegia 51
* CPT1, muscle - See Carnitine palmitoyltransferase I deficiency , muscle
* CPT1A deficiency - See Carnitine palmitoyl transferase 1 deficiency
* CPT1B - See Carnitine palmitoyltransferase I deficiency , muscle
* CPT2 - See Carnitine palmitoyltransferase 2 deficiency
* CPX - See Cleft palate X-linked
* CPX deficiency - See Hereditary coproporphyria
* CPXD - See Chondrodysplasia punctata 2 X-linked dominant
* CPXR - See Chondrodysplasia punctata 1, X-linked recessive
* Cramer Niederdellmann syndrome - See Cerebral gigantism jaw cysts
* Cramp-fasciculation syndrome
* Crandall syndrome
* Crane-Heise syndrome
* Cranial arteritis - See Giant cell arteritis
* Cranial mononeuropathy VI - See Sixth nerve palsy
* Cranial nerve VI palsy - See Sixth nerve palsy
* Cranial variant of GBS - See Miller-Fisher syndrome
* Cranial variant of Guillain-Barré syndrome - See Miller-Fisher syndrome
* Cranio fronto nasal dysplasia poland anomaly - See Webster Deming syndrome
* Cranio osteoarthropathy
* Cranioacrofacial syndrome
* Craniocarpotarsal dysplasia - See Freeman Sheldon syndrome
* Craniocarpotarsal dystrophy - See Freeman Sheldon syndrome
* Craniocele - See Encephalocele
* Craniocerebellocardiac dysplasia - See Dandy-Walker like malformation with atrioventricular septal defect
* Cranio-cerebello-cardiac dysplasia - See Dandy-Walker like malformation with atrioventricular septal defect
* Craniodiaphyseal dysplasia
* Craniodiaphyseal dysplasia, dominant - See Schaefer Stein Oshman syndrome
* Craniodigital syndrome mental retardation
* Craniodigital syndrome with mental retardation - See Scott Bryant Graham syndrome
* Craniodigital syndrome-mental retardation, Scott type - See Scott Bryant Graham syndrome
* Cranioectodermal dysplasia
* Craniofacial and osseous defects mental retardation - See Grix Blankenship Peterson syndrome
* Craniofacial and skeletal defects
* Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage - See Teebi Shaltout syndrome
* Craniofacial deafness hand syndrome
* Craniofacial digital genital anomalies - See Harrod Doman Keele syndrome
* Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation - See Temtamy syndrome
* Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature - See Cousin syndrome
* Craniofacial dysostosis arthrogryposis progeroid appearence
* Craniofacial dysostosis type 1 - See Crouzon syndrome
* Craniofacial dysostosis with diaphyseal hyperplasia
* Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies - See Gorlin Chaudhry Moss syndrome
* Craniofacial dyssynostosis
* Craniofacial dyssynostosis and short stature - See Craniofacial dyssynostosis
* Craniofacial dystonia
* Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development - See Curry Jones syndrome
* Craniofacial microsomia - See Hemifacial microsomia
* Craniofaciocardioskeletal syndrome - See Cantu syndrome
* Craniofaciocervical osteoglyphic dysplasia - See Bazopoulou-Kyrkanidou syndrome
* Craniofrontonasal dysostosis - See Craniofrontonasal dysplasia
* Craniofrontonasal dysplasia
* Craniofrontonasal dysplasia, Teebi type - See Brachycephalofrontonasal dysplasia
* Craniofrontonasal syndrome - See Craniofrontonasal dysplasia
* Craniofrontonasal syndrome Teebi type
* Craniometaphyseal dysplasia Jackson type - See Craniometaphyseal dysplasia, autosomal dominant
* Craniometaphyseal dysplasia, autosomal dominant
* Craniometaphyseal dysplasia, autosomal recessive type
* Craniomicromelic syndrome
* Cranio-oro-digital syndrome - See Oto-palato-digital syndrome type 2
* Craniopharyngeal duct tumor - See Craniopharyngioma
* Craniopharyngioma
* Craniorachischisis
* Craniostenosis - See Craniosynostosis
* Craniostenosis cataract
* Craniostenosis with congenital heart disease mental retardation
* Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis - See Cardiocranial syndrome
* Craniosynostosis
* Craniosynostosis alopecia brain defect
* Craniosynostosis and clavicular hypoplasia, Delayed closure of the fontanel, Anal anomalies and Genitourinary malformations - See Craniosynostosis, anal anomalies, and porokeratosis
* Craniosynostosis arthrogryposis cleft palate
* Craniosynostosis autosomal dominant
* Craniosynostosis Boston type - See Warman Mulliken Hayward syndrome
* Craniosynostosis brachydactyly - See Glass Chapman Hockley syndrome
* Craniosynostosis cleft lip palate arthrogryposis
* Craniosynostosis contractures cleft
* Craniosynostosis exostoses nevus epibulbar dermoid
* Craniosynostosis Fontaine type
* Craniosynostosis Maroteaux Fonfria type
* Craniosynostosis mental retardation clefting syndrome
* Craniosynostosis mental retardation heart defects
* Craniosynostosis Philadelphia type
* Craniosynostosis radial aplasia type Imaizumi - See Imaizumi Kuroki syndrome
* Craniosynostosis synostoses hypertensive nephropathy - See Allain-Babin-Demarquez syndrome
* Craniosynostosis Warman type - See Warman Mulliken Hayward syndrome
* Craniosynostosis with arachnodactyly and abdominal hernias - See Shprintzen-Goldberg craniosynostosis syndrome
* Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features - See Iida Kannari syndrome
* Craniosynostosis with lid anomalies - See Michels syndrome
* Craniosynostosis with radial defects - See Baller-Gerold syndrome
* Craniosynostosis, anal anomalies, and porokeratosis
* Craniosynostosis, lambdoidal - See Lambdoid synostosis
* Craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects - See Calabro syndrome
* Craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature - See Hunter-McAlpine syndrome
* Craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose - See Baraitser Rodeck Garner syndrome
* Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia - See Samson Gardner syndrome
* Craniosynostosis, midfacial hypoplasia, and foot abnormalities - See Jackson-Weiss syndrome
* Craniosynostosis-bifid hallux syndrome - See Robinow Sorauf syndrome
* Craniosynostosis-craniofacial dysostosis syndrome - See Craniofacial dyssynostosis
* Craniosynostosis-mental retardation syndrome of Lin and Gettig
* Craniosynostosis-radial aplasia syndrome - See Baller-Gerold syndrome
* Craniotelencephalic dysplasia
* Cranium bifidum - See Encephalocele
* CRAPB - See Progressive bifocal chorioretinal atrophy
* Crash syndrome - See Spastic paraplegia 1
* Crawfurd syndrome
* CRB - See Leber congenital amaurosis 1
* CRBM - See Cherubism
* CRCC - See Chromophobe renal cell carcinoma
* CRD2 - See Cone-rod dystrophy 2
* Creatine deficiency, X-linked - See X-linked creatine deficiency
* Cree leukoencehalopathy - See Leukoencephalopathy with vanishing white matter
* Creeping eruption - See Cutaneous larva migrans
* Creeping myiasis
* CREST syndrome - See Limited scleroderma
* Cretinism - See Neonatal hypothyroidism
* Cretinism athyreotic
* Creutzfeldt Jacob disease - See Creutzfeldt-Jakob disease
* Creutzfeldt Jakob disease - See Creutzfeldt-Jakob disease
* Creutzfeldt-Jacob disease - See Creutzfeldt-Jakob disease
* Creutzfeldt-Jakob disease
* Cri du chat syndrome
* Cribriform carcinoma - See Adenoid cystic carcinoma
* Crigler Najjar syndrome, type 1
* Crigler Najjar syndrome, type 2
* Crigler-Najjar syndrome, type I - See Crigler Najjar syndrome, type 1
* Crigler-Najjar syndrome, type II - See Crigler Najjar syndrome, type 2
* Crisponi syndrome
* Criswick-Schepens syndrome - See Familial exudative vitreoretinopathy
* CRMO - See Chronic recurrent multifocal osteomyelitis
*   Crohn's disease
* Crohn's disease of the esophagus
* Crohn's disease, pediatric - See Pediatric Crohn's disease
* Crome syndrome
* Cronkhite-Canada disease
* Crooked little finger, familial - See Familial streblodactyly
* Cross syndrome - See Oculocerebral syndrome with hypopigmentation
* Crossed polydactyly type 1
* Crossed polysyndactyly
* Crosti-gianotti syndrome - See Gianotti Crosti syndrome
* Crouzon craniofacial dysostosis - See Crouzon syndrome
* Crouzon disease - See Crouzon syndrome
* Crouzon syndrome
* Crow-Fukase syndrome - See POEMS syndrome
* CRPS - See Complex regional pain syndrome
* CRS - See Congenital rubella
* Crumpled helices and small mouth
* Crusted scabies
* CRV - See Retinal vasculopathy with cerebral leukodystrophy
* Cryofibrinogenemia
* Cryoglobulinemia
* Cryoglobulinemia, familial mixed
* Cryohydrocytosis - See Pseudohyperkalemia Cardiff
* Cryopyrin-associated periodic syndrome
* Cryopyrinopathy - See Cryopyrin-associated periodic syndrome
* Cryptococcosis
* Cryptogenic organizing pneumonia
* Cryptomicrotia brachydactyly syndrome
* Cryptomicrotia brachydactyly syndrome excess fingertip arch - See Cryptomicrotia brachydactyly syndrome
* Cryptophthalmos
* Cryptophthalmos syndrome - See Fraser syndrome
* Cryptophthalmos with other malformations - See Fraser syndrome
* Cryptophthalmos-syndactyly syndrome - See Fraser syndrome
* Cryptorchidism arachnodactyly intellectual deficit - See Van Benthem-Driessen-Hanveld syndrome
* Cryptorchidism arachnodactyly mental retardation
* Cryptosporidiosis
* CS - See Cowden syndrome
* CSF leak - See Cerebrospinal fluid leak
* CSF otorrhea - See Cerebrospinal fluid leak
* CSF rhinorrhea - See Cerebrospinal fluid leak
* CSID - See Congenital sucrase-isomaltase deficiency
* CSNU - See Cystinuria
* CSO - See Craniosynostosis
* CSS - See Churg Strauss syndrome
* CST syndrome - See Hypohidrotic ectodermal dysplasia
* CTAA1 - See Cataract anterior polar dominant
* CTAA2 - See Anterior polar cataract 2
* CTCL - See Cutaneous T-cell lymphoma
*   CTEV - See Talipes equinovarus
* CTHM - See Conotruncal heart malformations
* CTLN2 - See Adult-onset citrullinemia type II
* CTNL1 - See Citrullinemia type I
* CTNS - See Nephropathic cystinosis
* CTPA - See Cataract, posterior polar, 1
* CTPP - See Cataract, posterior polar, 1
* CTPP1 - See Cataract, posterior polar, 1
* CTPP3 - See Cataract, posterior polar, 3
* CTPP4 - See Cataract, posterior polar, 4
* CTPP5 - See Cataract, posterior polar, 5
* CTX - See Cerebrotendinous xanthomatosis
* Cumming syndrome - See Campomelia Cumming type
* Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly - See Metaphyseal acroscyphodysplasia
* Cupped metaphyses and cone-shaped epiphyses with alopecia - See Trichoscyphodysplasia
* Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly - See Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
* Curatolo Cilio Pessagno syndrome - See White matter hypoplasia, corpus callosum agenesia, and mental retardation
* Curly hair ankyloblepharon nail dysplasia syndrome - See CHAND syndrome
* Curly hair-acral keratoderma-caries syndrome
* Curly hair-ankyloblepharon-nail dysplasia syndrome - See CHAND syndrome
* Curran syndrome - See Acrorenal syndrome recessive
* Currarino syndrome - See Currarino triad
* Currarino triad
* Curry Hall syndrome - See Weyers acrofacial dysostosis
* Curry Jones syndrome
* Curth-Macklin type ichthyosis hystrix - See Ichthyosis hystrix, Curth Macklin type
* Cushing syndrome - See Cushing's syndrome
* Cushing syndrome, familial
* Cushing's symphalangism
* Cushing's syndrome
* Cutaneomeningospinal angiomatosis - See Cobb syndrome
* Cutaneous anthrax
* Cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb - See Parkes Weber syndrome
* Cutaneous larva migrans
* Cutaneous leishmaniasis (subtype) - See Leishmaniasis
* Cutaneous leukocytoclastic angiitis - See Cutaneous necrotizing vasculitis
* Cutaneous lupus erythematosus
*   Cutaneous malignant melanoma, hereditary (CMM) - See Atypical mole syndrome
* Cutaneous mastocytosis
* Cutaneous necrotizing vasculitis
* Cutaneous neuroendocrine carcinoma - See Merkel cell carcinoma
* Cutaneous photosensitivity and colitis, lethal
* Cutaneous polyarteritis nodosa
* Cutaneous sclerosis
* Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas - See Muir-Torre syndrome
* Cutaneous T-cell lymphoma
* Cutis Gyrata syndrome of Beare and Stevenson
* Cutis gyratum acanthosis nigricans craniosynostosis
* Cutis laxa
* Cutis laxa growth deficiency syndrome - See De Barsy syndrome
* Cutis laxa osteoporosis
* Cutis laxa with bone dystrophy - See Cutis laxa, autosomal recessive type 2A
* Cutis laxa with growth and developmental delay - See Cutis laxa, autosomal recessive type 2A
* Cutis laxa with joint laxity and retarded development - See Cutis laxa, autosomal recessive type 2A
* Cutis laxa with progeroid features - See Cutis laxa, autosomal recessive type 2B
* Cutis laxa X-linked - See Occipital horn syndrome
* Cutis laxa, autosomal dominant
* Cutis laxa, autosomal recessive - See Cutis laxa, autosomal recessive type 1
* Cutis laxa, autosomal recessive type 1
* Cutis laxa, autosomal recessive type 2A
* Cutis laxa, autosomal recessive type 2B
* Cutis laxa, Debre type - See Cutis laxa, autosomal recessive type 2A
* Cutis laxa, type 1 - See Cutis laxa, autosomal recessive type 1
* Cutis marmorata telangiectatica congenita
* Cutis verticis gyrata
* Cutis verticis gyrata mental deficiency
* Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome - See Akesson syndrome
* Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome - See Akesson syndrome
* Cutler Bass Romshe syndrome
* CVD1 - See Cardiac valvular dysplasia, X-linked
* CVID - See Common variable immunodeficiency
* CVPT - See Catecholaminergic polymorphic ventricular tachycardia
* CVS - See Cyclic vomiting syndrome
* CVT - See Vertical talus, congenital
* CX - See Xanthogranulomatous cholecystitis
* Cyclic hematopoiesis - See Cyclic neutropenia
* Cyclic neutropenia
* Cyclic thrombocytopenia
* Cyclic vomiting syndrome
*   Cyclical edema - See Idiopathic edema
* CYCLOOXYGENASE 1 DEFICIENCY - See PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
* Cyclopism - See Fraser syndrome
* Cyclospora infection - See Cyclosporiasis
* Cyclosporiasis
* Cyclosporosis - See Cyclosporiasis
* CYLD - See Familial cylindromatosis
* Cylindrical spirals myopathy
* Cylindroma - See Adenoid cystic carcinoma
* Cylindromatosis, familial - See Familial cylindromatosis
* Cyllosomas - See Limb-body wall complex
* CYP21 deficiency - See 21-hydroxylase deficiency
*   CYP2D6 - See Cytochrome p450 2D6 variant
* Cyprus facial neuromusculoskeletal syndrome
* Cyprus fever - See Brucellosis
* Cystadenocarcinoma - See Adenocarcinoma of the appendix
* Cystathionine beta-synthase deficiency - See Homocystinuria due to CBS deficiency
* Cystathioninuria - See Gamma-cystathionase deficiency
* Cystic adenomatoid malformation of lung
* Cystic adventitial disease
* Cystic angiomatosis of bone diffuse - See Gorham's disease
* Cystic dilatation of renal collecting tubes - See Medullary sponge kidney
* Cystic dilatation of the intrahepatic biliary tree - See Caroli disease
* Cystic endosalpingiosis of the uterus - See Florid cystic endosalpingiosis of the uterus
* Cystic fibrosis
* Cystic fibrosis gastritis megaloblastic anemia - See Lubani Al Saleh Teebi syndrome
* Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies - See Lubani Al Saleh Teebi syndrome
* Cystic hamartoma of lung and kidney - See Graham Boyle Troxell syndrome
* Cystic hygroma
* Cystic hygroma fetal - See Nuchal bleb, familial
* Cystic hygroma lethal cleft palate
* Cystic medial necrosis of aorta
* Cysticercosis
* Cystic-multilocular variant - See Clear cell renal cell carcinoma
* Cystine diathesis - See Cystinosis
* Cystine disease - See Cystinosis
* Cystine storage disease - See Cystinosis
* Cystinoses - See Cystinosis
* Cystinosin, defect of - See Nephropathic cystinosis
* Cystinosis
* Cystinosis, adult, nonnephropathic - See Cystinosis, ocular nonnephropathic
* Cystinosis, benign, nonnephropathic - See Cystinosis, ocular nonnephropathic
* Cystinosis, ocular nonnephropathic
* Cystinuria
* Cystinuria-lysinuria - See Cystinuria
* Cystoisosporiasis - See Isosporiasis
* Cystosarcoma phyllodes
* Cytochrome C oxidase deficiency - See Mitochondrial complex IV deficiency
* Cytochrome c oxidase deficiency, French Canadian type - See Leigh syndrome, French Canadian type
*   Cytochrome p450 (2D6) - See Cytochrome p450 2D6 variant
*   Cytochrome p450 2D6 variant
* Cytokine deficiency
* Cytokine receptor deficiency
* Cytomegalic inclusion body disease - See Cytomegalic inclusion disease
* Cytomegalic inclusion disease
* Cytomegalovirus retinitis
* Cytoplasmic body myopathy
* Czech dysplasia metatarsal type
* Czeizel Brooser syndrome - See Polydactyly myopia syndrome
* Czeizel syndrome - See Omphalocele cleft palate syndrome lethal
* Czeizel-Losonci syndrome - See Split hand urinary anomalies spina bifida