C | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• C syndrome
• C. perfringens infection - See Clostridium perfringens infection
• C. sordellii infection - See Clostridium sordellii infection
• C1q deficiency
• C1q nephropathy
• 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, familial - See Hereditary cerebral hemorrhage with amyloidosis
• Cabezas syndrome
• Cabezas type of X-linked syndromic intellectual disability - See Cabezas syndrome
• Cacchi Ricci disease - See Medullary sponge kidney
• Cacchi-Ricci disease - See Medullary sponge kidney
• Cacchi-Ricci syndrome - See Medullary sponge kidney
• CACH syndrome - See Leukoencephalopathy with vanishing white matter
• CACH/VWM - See Leukoencephalopathy with vanishing white matter
• CACH/VWM syndrome - See Leukoencephalopathy with vanishing white matter
• CACP syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• CAD - See Cold agglutinin disease
• CADASIL
• CAD-CDG
• CADDS - See Deafness, dystonia, and cerebral hypomyelination
• CADH deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
• CAEBV infection - See Chronic active Epstein-Barr virus infection
• Caffey disease
• CAH - See Congenital adrenal hyperplasia
• CAH due to 11-beta-hydroxylase deficiency - See 11-beta-hydroxylase deficiency
• CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
• CAHTP - See Brain-lung-thyroid 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 phenomenon - esophageal involvement - sclerodactyly - telangiectasia - See CREST syndrome
• Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome - See CREST syndrome
• 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
• Calderon Gonzalez-Cantu syndrome - See Hair defect-photosensitivity-intellectual disability syndrome
• Calderón-González-Cantu syndrome - See Hair defect-photosensitivity-intellectual disability syndrome
• California encephalitis
• Californian encephalitis - See La Crosse 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
• 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 - overgrowth - unusual facies - See Weaver syndrome
• 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 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-arthropathy-coxa-vara-pericarditis syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Camptodactyly-ichthyosis syndrome
• Camptodactyly-overgrowth-unusual facies syndrome - See Weaver syndrome
• Camptodactyly-taurinuria - See Camptodactyly taurinuria
• Camptodactyly-taurinuria syndrome - See Camptodactyly taurinuria
• Camptomelic syndrome long limb type
• CAMS2 - See Wyburn-Mason syndrome
• 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 penis - See Penile cancer, adult
• Cancers of the supraglottic larynx region - See Supraglottic laryngeal cancer
• Cancrum oris - See Noma
• CANDF7 - See Candidiasis familial chronic mucocutaneous, autosomal dominant
• Candida glabrata
• Candidiasis familial chronic mucocutaneous, autosomal dominant
• Candidiasis familial chronic mucocutaneous, autosomal recessive
• Candidiasis Familial, 7 - See Candidiasis familial chronic mucocutaneous, autosomal dominant
• 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 disease - See Cap myopathy
• Cap myopathy
• CAPA - See Episodic ataxia with nystagmus
• Capdepont teeth - See Dentinogenesis imperfecta type 2
• Capdepont teeth - See Dentinogenesis imperfecta
• 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 lymphangioma - See Microcystic lymphatic malformation
• Capillary lymphatic malformation - See Microcystic lymphatic malformation
• Capillary malformation-arteriovenous malformation syndrome
• 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 deficient glycoprotein syndrome type - See DDOST-CDG (CDG-Ir)
• Carbohydrate deficient glycoprotein syndrome type 1L - See ALG9-CDG (CDG-IL)
• Carbohydrate deficient glycoprotein syndrome type Ia - See PMM2-CDG (CDG-Ia)
• Carbohydrate deficient glycoprotein syndrome type Ic - See ALG6-CDG (CDG-Ic)
• Carbohydrate deficient glycoprotein syndrome type Id - See ALG3-CDG (CDG-Id)
• Carbohydrate deficient glycoprotein syndrome type Ie - See DPM1-CDG (CDG-Ie)
• Carbohydrate deficient glycoprotein syndrome type If - See MPDU1-CDG (CDG-If)
• Carbohydrate deficient glycoprotein syndrome type Ig - See ALG12-CDG (CDG-Ig)
• Carbohydrate deficient glycoprotein syndrome type Ih - See ALG8-CDG (CDG-Ih)
• Carbohydrate deficient glycoprotein syndrome type Ii - See ALG2-CDG (CDG-Ii)
• Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency - See MAN1B1-CDG
• Carbohydrate deficient glycoprotein syndrome type IIa - See MGAT2-CDG (CDG-IIa)
• Carbohydrate deficient glycoprotein syndrome type IIb - See MOGS-CDG (CDG-IIb)
• Carbohydrate deficient glycoprotein syndrome type IId - See B4GALT1-CDG (CDG-IId)
• Carbohydrate deficient glycoprotein syndrome type IIe - See COG7-CDG (CDG-IIe)
• Carbohydrate deficient glycoprotein syndrome type IIf - See SLC35A1-CDG (CDG-IIf)
• Carbohydrate deficient glycoprotein syndrome type IIg - See COG1-CDG (CDG-IIg)
• Carbohydrate deficient glycoprotein syndrome type IIh - See COG8-CDG (CDG-IIh)
• Carbohydrate deficient glycoprotein syndrome type IIi - See COG5-CDG (CDG-IIi)
• Carbohydrate deficient glycoprotein syndrome type IIj - See COG4-CDG (CDG-IIj)
• Carbohydrate deficient glycoprotein syndrome type IIk - See TMEM165-CDG (CDG-IIk)
• Carbohydrate deficient glycoprotein syndrome type Ij - See DPAGT1-CDG (CDG-Ij)
• Carbohydrate deficient glycoprotein syndrome type Ik - See ALG1-CDG (CDG-Ik)
• Carbohydrate deficient glycoprotein syndrome type IL - See ALG9-CDG (CDG-IL)
• Carbohydrate deficient glycoprotein syndrome type Im - See DOLK-CDG (CDG-Im)
• Carbohydrate deficient glycoprotein syndrome type In - See RFT1-CDG (CDG-In)
• Carbohydrate deficient glycoprotein syndrome type Io - See DPM3-CDG (CDG-Io)
• Carbohydrate deficient glycoprotein syndrome type Ip - See ALG11-CDG (CDG-Ip)
• Carbohydrate deficient glycoprotein syndrome type Ir - See DDOST-CDG (CDG-Ir)
• Carbohydrate deficient glycoprotein syndrome type Iu - See DPM2-CDG
• Carbohydrate deficient glycoprotein syndrome type Iy - See SSR4-CDG
• Carbohydrate deficient glycoprotein syndrome type Iz - See CAD-CDG
• Carbohydrate inducible hyperlipemia - See Hyperlipoproteinemia type 4
• Carbohydrate intolerance of glucose galactose - See Glucose-galactose malabsorption
• Carbohydrate-deficient glycoprotein syndrome type 1A - See PMM2-CDG (CDG-Ia)
• Carbohydrate-deficient glycoprotein syndrome type 1A (formerly) - See PMM2-CDG (CDG-Ia)
• Carbohydrate-deficient glycoprotein syndrome type 1B - See MPI-CDG (CDG-Ib)
• Carbohydrate-deficient glycoprotein syndrome type 1C - See ALG6-CDG (CDG-Ic)
• Carbohydrate-deficient glycoprotein syndrome type 1E - See DPM1-CDG (CDG-Ie)
• Carbohydrate-deficient glycoprotein syndrome type 1F - See MPDU1-CDG (CDG-If)
• Carbohydrate-deficient glycoprotein syndrome type 1I - See ALG2-CDG (CDG-Ii)
• Carbohydrate-deficient glycoprotein syndrome type 2 - See MGAT2-CDG (CDG-IIa)
• Carbohydrate-deficient glycoprotein syndrome type IV (formerly) - See ALG3-CDG (CDG-Id)
• Carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly) - See ALG6-CDG (CDG-Ic)
• CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2, FORMERLY - See MGAT2-CDG (CDG-IIa)
• Carbohydrate-deficient glycoprotein syndrome, type V (formerly) - See ALG6-CDG (CDG-Ic)
• Carbohydrate-deficient glycoprotein syndromes - See Congenital disorders of glycosylation
• Carbon baby syndrome - See Universal acquired melanosis
• Carbon Pneumoconiosis - See Graphite Pneumoconiosis
• Carbonic anhydrase 2 deficiency - See Osteopetrosis autosomal recessive 3
• Carbonic anhydrase VA deficiency
• 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, merkel cell - See Merkel cell carcinoma
• Carcinoma, squamous cell - See Squamous cell carcinoma - not a rare disease
• Carcinoma, squamous cell of head and neck - See Squamous cell carcinoma of the head and neck - not a rare disease
• Carcinosarcoma - See Malignant mixed Mullerian tumor
• Carcinosarcoma of the corpus uteri - See Uterine Carcinosarcoma
• CARD9 deficiency - See Candidiasis familial chronic mucocutaneous, autosomal recessive
• Cardiac anomalies-developmental delay-facial dysmorphism syndrome - See MED13L haploinsufficiency syndrome
• Cardiac arrhythmia, ankyrin-B-related - See Ankyrin-B syndrome
• 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
• Cardiac-Valvular EDS - See Cardiac-Valvular Ehlers-Danlos syndrome
• Cardiac-Valvular Ehlers-Danlos syndrome
• Cardioauditory syndrome of Jervell and Lange-Nielsen - See Jervell Lange-Nielsen syndrome
• Cardioauditory syndrome of Sanchez Cascos
• Cardiocranial syndrome, Pfeiffer type - See Pfeiffer-type 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
• cardiomyopathic mitochondrial DNA depletion syndrome 10 - See Sengers syndrome
• Cardiomyopathy and cataract - See Sengers syndrome
• 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 metabolic anomalies
• Cardiomyopathy spherocytosis
• Cardiomyopathy, dilated, 1S - See Familial dilated cardiomyopathy
• 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
• Cardiovascular Gaucher disease - See Gaucher disease
• Cardiovertebral syndrome - See Alagille syndrome
• Carey Fineman Ziter syndrome - See Carey-Fineman-Ziter syndrome
• Carey-Fineman-Ziter syndrome - See Carey-Fineman-Ziter syndrome
• Carey-Fineman-Ziter syndrome
• Carinatum deformity of the chest - See Pectus carinatum
• Carmi syndrome - See Epidermolysis bullosa
• Carnevale Canun Mendoza syndrome - See Multicentric osteolysis nephropathy
• Carnevale Hernandez Castillo 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 1A deficiency
• Carnitine palmitoyl transferase IA deficiency - See Carnitine palmitoyl transferase 1A deficiency
• Carnitine palmitoyltransferase 1A deficiency - See Carnitine palmitoyl transferase 1A deficiency
• Carnitine palmitoyltransferase 2 deficiency
• Carnitine palmitoyltransferase deficiency type 2 - See Carnitine palmitoyltransferase 2 deficiency
• 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 - not a rare disease
• carpal synostosis with dysplastic elbow joints and brachydactyly - See Brachydactyly elbow wrist dysplasia
• Carpenter syndrome
• Carpenter syndrome 1 - See Carpenter syndrome
• Carpo tarsal osteolysis recessive
• Carpotarsal osteochondromatosis
• Carrington syndrome - See Chronic eosinophilic pneumonia
• Carrington's Disease - See Chronic eosinophilic pneumonia
• Carrington's pulmonary eosinophilia - See Chronic eosinophilic pneumonia
• 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
• CAS - See Childhood apraxia of speech
• CASIL - See CADASIL
• CASK-Related Disorders
• CASM syndrome - See Cataracts, ataxia, short stature, and mental retardation
• Caspase 8 deficiency - See Caspase-8 deficiency
• Caspase-8 deficiency
• CASS - See Autosomal recessive palmoplantar keratoderma and congenital alopecia
• Cassavism
• Cast syndrome - See Superior mesenteric artery syndrome
• CASTLE - See Carcinoma showing thymus-like differentiation
• Castleman 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 24, anterior polar - See Early-onset anterior polar cataract
• Cataract 40, X-linked - See Cataract, congenital, with microcornea or slight microphthalmia
• Cataract and cardiomyopathy - See Sengers syndrome
• Cataract and congenital ichthyosis
• Cataract anterior polar - See Early-onset anterior polar cataract
• 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 mental retardation anal atresia urinary defects - See Karandikar Maria Kamble syndrome
• Cataract microcornea syndrome
• Cataract skeletal anomalies
• Cataract X-linked with Hutchinsonian teeth - See Nance-Horan syndrome
• Cataract, alopecia, sclerodactyly - See Autosomal recessive palmoplantar keratoderma and congenital alopecia
• Cataract, alopecia, sclerodactyly syndrome - See Autosomal recessive palmoplantar keratoderma and congenital alopecia
• Cataract, Anterior Polar, 2 - See Early-onset anterior polar cataract
• 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, 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-ataxia-deafness-retardation syndrome - See Cataract ataxia deafness
• Cataract-glaucoma
• Cataract-hyperferritinemia syndrome - See Hyperferritinemia cataract syndrome
• Cataract-intellectual disability-hypogonadism syndrome - See Martsolf syndrome
• 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
• Catel-Hempel syndrome - See Schwartz Jampel syndrome
• Cathepsin A deficiency of - See Galactosialidosis
• Cathepsin D deficiency - See Neuronal ceroid lipofuscinosis 10
• 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 Familial caudal dysgenesis
• Caudal dysplasia - See Caudal regression sequence
• Caudal regression sequence
• Caudal regression syndrome - See Caudal regression sequence
• Caused by deficiency of selenium in the diet - See Keshan disease
• CA-VA Deficiency - See Carbonic anhydrase VA deficiency
• CAVC - See Complete atrioventricular canal
• CAVD - See Congenital bilateral absence of the vas deferens
• Cavernoma - See Cerebral cavernous malformation - not a rare disease
• Cavernous angioma - See Cerebral cavernous malformation - not a rare disease
• 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 - not a rare disease
• CBAS1 - See Congenital bile acid synthesis defect, type 1
• CBAS2 - See Congenital bile acid synthesis defect, type 2
• CBAS4 - See Bile acid synthesis defect, congenital, 4
• CBAVD - See Congenital bilateral absence of the vas deferens
• CBBM - See Blue cone monochromatism
• CBFB-MYH11 - See Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
• CBG deficiency - See Corticosteroid-binding globulin deficiency
• CBGD - See Corticobasal degeneration
• cblC - See Methylmalonic acidemia with homocystinuria type cblC
• CblD defect - See Methylmalonic acidemia with homocystinuria type cblD
• cblG - See Methylcobalamin deficiency cbl G type
• CblJ defects - See Methylmalonic acidemia with homocystinuria type cblJ
• 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 - See Acrocardiofacial syndrome
• CCHS - See Congenital central hypoventilation syndrome
• CCM - See Cerebral cavernous malformation - not a rare disease
• 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
• CCV - See Cutaneous collagenous vasculopathy
• CD - See Cowden syndrome
• CD3 deficiency
• CD4 deficiency
• CD4+/CD56+ hematodermic neoplasm - See Blastic plasmacytoid dendritic cell
• 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
• CDA type II - See Congenital dyserythropoietic anemia type 2
• 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 PMM2-CDG (CDG-Ia)
• CDG 1B - See MPI-CDG (CDG-Ib)
• CDG 1C - See ALG6-CDG (CDG-Ic)
• CDG 1D - See ALG3-CDG (CDG-Id)
• CDG 1E - See DPM1-CDG (CDG-Ie)
• CDG 1F - See MPDU1-CDG (CDG-If)
• CDG 1G - See ALG12-CDG (CDG-Ig)
• CDG 1H - See ALG8-CDG (CDG-Ih)
• CDG 1I - See ALG2-CDG (CDG-Ii)
• CDG 1J - See DPAGT1-CDG (CDG-Ij)
• CDG 1K - See ALG1-CDG (CDG-Ik)
• CDG 1L - See ALG9-CDG (CDG-IL)
• CDG 2A - See MGAT2-CDG (CDG-IIa)
• CDG 2B - See MOGS-CDG (CDG-IIb)
• CDG 2C - See SLC35C1-CDG (CDG-IIc)
• CDG 2D - See B4GALT1-CDG (CDG-IId)
• CDG 2E - See COG7-CDG (CDG-IIe)
• CDG 2G - See COG1-CDG (CDG-IIg)
• CDG gastrointestinal type - See MPI-CDG (CDG-Ib)
• CDG IIf - See SLC35A1-CDG (CDG-IIf)
• CDG IIh - See COG8-CDG (CDG-IIh)
• CDG IIi - See COG5-CDG (CDG-IIi)
• CDG IIl - See COG6-CDG (CDG-IIL)
• CDG Im - See DOLK-CDG (CDG-Im)
• CDG Io - See DPM3-CDG (CDG-Io)
• CDG IY - See SSR4-CDG
• CDG syndrome type 3
• CDG syndrome type 4
• CDG syndrome type Ia - See PMM2-CDG (CDG-Ia)
• CDG syndrome type Ic - See ALG6-CDG (CDG-Ic)
• CDG syndrome type Id - See ALG3-CDG (CDG-Id)
• CDG syndrome type Ie - See DPM1-CDG (CDG-Ie)
• CDG syndrome type If - See MPDU1-CDG (CDG-If)
• CDG syndrome type Ig - See ALG12-CDG (CDG-Ig)
• CDG syndrome type Ih - See ALG8-CDG (CDG-Ih)
• CDG syndrome type Ii - See ALG2-CDG (CDG-Ii)
• CDG syndrome type IIa - See MGAT2-CDG (CDG-IIa)
• CDG syndrome type IIb - See MOGS-CDG (CDG-IIb)
• CDG syndrome type IId - See B4GALT1-CDG (CDG-IId)
• CDG syndrome type IIe - See COG7-CDG (CDG-IIe)
• CDG syndrome type IIf - See SLC35A1-CDG (CDG-IIf)
• CDG syndrome type IIg - See COG1-CDG (CDG-IIg)
• CDG syndrome type IIh - See COG8-CDG (CDG-IIh)
• CDG syndrome type IIi - See COG5-CDG (CDG-IIi)
• CDG syndrome type IIj - See COG4-CDG (CDG-IIj)
• CDG syndrome type IIk - See TMEM165-CDG (CDG-IIk)
• CDG syndrome type IIm - See SLC35A2-CDG
• CDG syndrome type Ij - See DPAGT1-CDG (CDG-Ij)
• CDG syndrome type Ik - See ALG1-CDG (CDG-Ik)
• CDG syndrome type IL - See ALG9-CDG (CDG-IL)
• CDG syndrome type Im - See DOLK-CDG (CDG-Im)
• CDG syndrome type In - See RFT1-CDG (CDG-In)
• CDG syndrome type Io - See DPM3-CDG (CDG-Io)
• CDG syndrome type Ip - See ALG11-CDG (CDG-Ip)
• CDG syndrome type Iq - See SRD5A3-CDG (CDG-Iq)
• CDG syndrome type Ir - See DDOST-CDG (CDG-Ir)
• CDG syndrome type Is - See ALG13-CDG
• CDG syndrome type It - See PGM1-CDG
• CDG syndrome type Iu - See DPM2-CDG
• CDG syndrome type Iy - See SSR4-CDG
• CDG syndrome type Iz - See CAD-CDG
• CDG X - See Congenital disorder of glycosylation type I/IIX
• CDG1(DPM3) - See DPM3-CDG (CDG-Io)
• CDG1A - See PMM2-CDG (CDG-Ia)
• CDG1B - See MPI-CDG (CDG-Ib)
• CDG1C - See ALG6-CDG (CDG-Ic)
• CDG1D - See ALG3-CDG (CDG-Id)
• CDG1E - See DPM1-CDG (CDG-Ie)
• CDG1F - See MPDU1-CDG (CDG-If)
• CDG1G - See ALG12-CDG (CDG-Ig)
• CDG1H - See ALG8-CDG (CDG-Ih)
• CDG1I - See ALG2-CDG (CDG-Ii)
• CDG1J - See DPAGT1-CDG (CDG-Ij)
• CDG1K - See ALG1-CDG (CDG-Ik)
• CDG1L - See ALG9-CDG (CDG-IL)
• CDG1M - See DOLK-CDG (CDG-Im)
• CDG1N - See RFT1-CDG (CDG-In)
• CDG1O - See DPM3-CDG (CDG-Io)
• CDG1P - See ALG11-CDG (CDG-Ip)
• CDG1Q - See SRD5A3-CDG (CDG-Iq)
• CDG1R - See DDOST-CDG (CDG-Ir)
• CDG1S - See ALG13-CDG
• CDG1T - See PGM1-CDG
• CDG1U - See DPM2-CDG
• CDG1X - See STT3A-CDG and STT3B-CDG
• CDG1Y - See SSR4-CDG
• CDG1Z - See CAD-CDG
• CDG2A - See MGAT2-CDG (CDG-IIa)
• CDG2B - See MOGS-CDG (CDG-IIb)
• CDG2C - See SLC35C1-CDG (CDG-IIc)
• CDG2D - See B4GALT1-CDG (CDG-IId)
• CDG2E - See COG7-CDG (CDG-IIe)
• CDG2F - See SLC35A1-CDG (CDG-IIf)
• CDG2G - See COG1-CDG (CDG-IIg)
• CDG2H - See COG8-CDG (CDG-IIh)
• CDG2I - See COG5-CDG (CDG-IIi)
• CDG2J - See COG4-CDG (CDG-IIj)
• CDG2K - See TMEM165-CDG (CDG-IIk)
• CDG2L - See COG6-CDG (CDG-IIL)
• CDG2M - See SLC35A2-CDG
• CDGDL - See Amyloidosis corneal
• CDGG1 - See Groenouw type I corneal dystrophy
• CDG-Ia - See PMM2-CDG (CDG-Ia)
• CDG-Ic - See ALG6-CDG (CDG-Ic)
• CDG-Id - See ALG3-CDG (CDG-Id)
• CDG-Ie - See DPM1-CDG (CDG-Ie)
• CDG-If - See MPDU1-CDG (CDG-If)
• CDG-Ig - See ALG12-CDG (CDG-Ig)
• CDG-Ih - See ALG8-CDG (CDG-Ih)
• CDG-Ii - See ALG2-CDG (CDG-Ii)
• CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME - See COG1-CDG (CDG-IIg)
• CDG-IIa - See MGAT2-CDG (CDG-IIa)
• CDG-IIb - See MOGS-CDG (CDG-IIb)
• CDG-IId - See B4GALT1-CDG (CDG-IId)
• CDG-IIe - See COG7-CDG (CDG-IIe)
• CDG-IIf - See SLC35A1-CDG (CDG-IIf)
• CDG-IIg - See COG1-CDG (CDG-IIg)
• CDG-IIh - See COG8-CDG (CDG-IIh)
• CDG-IIi - See COG5-CDG (CDG-IIi)
• CDG-IIj - See COG4-CDG (CDG-IIj)
• CDG-IIk - See TMEM165-CDG (CDG-IIk)
• CDGIIl - See COG6-CDG (CDG-IIL)
• CDG-IIm - See SLC35A2-CDG
• CDG-Ij - See DPAGT1-CDG (CDG-Ij)
• CDG-Ik - See ALG1-CDG (CDG-Ik)
• CDG-IL - See ALG9-CDG (CDG-IL)
• CDGIm - See DOLK-CDG (CDG-Im)
• CDG-Im - See DOLK-CDG (CDG-Im)
• CDG-In - See RFT1-CDG (CDG-In)
• CDGIN - See RFT1-CDG (CDG-In)
• CDGIo - See DPM3-CDG (CDG-Io)
• CDG-Io - See DPM3-CDG (CDG-Io)
• CDG-Ip - See ALG11-CDG (CDG-Ip)
• CDGIq - See SRD5A3-CDG (CDG-Iq)
• CDG-Iq - See SRD5A3-CDG (CDG-Iq)
• CDG-Ir - See DDOST-CDG (CDG-Ir)
• CDG-Is - See ALG13-CDG
• CDG-It - See PGM1-CDG
• CDG-Iu - See DPM2-CDG
• CDGIw - See STT3A-CDG and STT3B-CDG
• CDGIx - See STT3A-CDG and STT3B-CDG
• CDGIy - See SSR4-CDG
• CDG-Iy - See SSR4-CDG
• CDG-Iz - See CAD-CDG
• CDGS2 - See MGAT2-CDG (CDG-IIa)
• CDGS4 (formerly) - See ALG3-CDG (CDG-Id)
• CDGS5 (formerly) - See ALG6-CDG (CDG-Ic)
• CDH - See Congenital diaphragmatic hernia
• CDHS - See Craniofacial deafness hand syndrome
• CDK4 linked melanoma
• CDKL5 - See CDKL5 deficiency disorder
• CDKL5 deficiency - See CDKL5 deficiency disorder
• CDKL5 deficiency disorder
• CDKL5 disorder - See CDKL5 deficiency disorder
• CDKL5-related disorder - See CDKL5 deficiency 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
• CDPX1 - See Chondrodysplasia punctata 1, X-linked recessive
• CDPX2 - See X-linked dominant chondrodysplasia punctata 2
• CDPXD - See X-linked dominant chondrodysplasia punctata 2
• 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 artery compression syndrome
• Celiac axis syndrome - See Celiac artery compression syndrome
• Celiac disease - not a rare disease
• Celiac disease epilepsy occipital calcifications - See Epilepsy occipital calcifications
• Celiac sprue - See Celiac disease - not a rare disease
• Cellular ependymoma (histologic variant) - See Ependymoma
• Celsus' Vitiligo - See Alopecia areata - not a rare disease
• 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 congenital hypothyroidism
• Central core disease
• Central core disease of muscle - See Central core disease
• Central diabetes insipidus
• Central nervous system epidermoid cyst - See Epidermoid brain cyst
• Central nervous system germinoma
• Central neurocytoma
• Central pain syndrome
• Central pontine myelinolysis - not a rare disease
• Central post-stroke pain (subtype) - See Central pain syndrome
• Central serous chorioretinopathy
• Central serous chorioretinopathy after bone marrow transplantation - See Central serous chorioretinopathy
• Central serous choroidopathy - See Central serous chorioretinopathy
• Centrifugal lipodystrophy (subtype) - See Localized lipodystrophy
• Centromeric instability, immunodeficiency syndrome - See ICF syndrome
• Centronuclear myopathy
• CEOT - See Calcifying Epithelial Odontogenic Tumor
• CEP - See Congenital erythropoietic 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
• Cercopithecine herpesvirus 1 infection - See Herpesvirus simiae B virus infection
• Cerebellar agenesis
• Cerebellar astrocytoma, childhood
• Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss - See Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
• Cerebellar ataxia - ectodermal dysplasia - See Cerebellar ataxia ectodermal dysplasia
• 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 - See Progressive external ophthalmoplegia, autosomal recessive 1
• 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 ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - See Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
• Cerebellar ataxia-ectodermal dysplasia syndrome - See Cerebellar ataxia ectodermal dysplasia
• Cerebellar ataxia-hypogonadism syndrome - See Cerebellar ataxia and hypogonadotropic hypogonadism
• 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 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
• Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis - See COACH syndrome
• Cerebello-oculocutaneous telangiectasia - See Ataxia telangiectasia
• Cerebellooculorenal syndrome - See Joubert syndrome with oculorenal anomalies
• Cerebello-oculo-renal syndrome - See Joubert syndrome with oculorenal anomalies
• 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
• Cerebellotrigeminal-dermal dysplasia syndrome - See Gomez Lopez Hernandez syndrome
• Cerebellum agenesis hydrocephaly
• Cerebral amyloid angiopathy - See Hereditary cerebral hemorrhage with amyloidosis
• Cerebral amyloid angiopathy, British type - See Dementia familial British
• Cerebral amyloid angiopathy, familial - See Hereditary cerebral hemorrhage with amyloidosis
• cerebral amyloid angiopathy, genetic - See Hereditary cerebral hemorrhage with amyloidosis
• 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 Primary Familial Brain 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 - not a rare disease
• Cerebral cavernous malformation - not a rare disease
• Cerebral cholesterinosis - See Cerebrotendinous xanthomatosis
• Cerebral creatine deficiency syndrome 2 - See Guanidinoacetate methyltransferase deficiency
• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
• Cerebral folate deficiency
• Cerebral folate deficiency syndrome - See Cerebral folate deficiency
• Cerebral folate transport deficiency - See Cerebral folate deficiency
• Cerebral gigantism - See Sotos syndrome
• Cerebral gigantism jaw cysts
• Cerebral malformation, seizures, hypertrichosis, and overlapping fingers - See Muller Barth Menger syndrome
• Cerebral palsy - not a rare disease
• 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
• Cerebro-costo-mandibular syndrome
• Cerebrocostomandibular syndrome - See Cerebro-costo-mandibular syndrome
• Cerebrocostomandibular-like syndrome
• Cerebrofacial arteriovenous metameric syndrome type 2 - See Wyburn-Mason syndrome
• Cerebrofacioarticular syndrome - See Cerebro-facio-articular syndrome
• Cerebro-facio-articular syndrome
• Cerebro-facio-articular syndrome of Van Maldergem - See Cerebro-facio-articular syndrome
• Cerebrofaciothoracic dysplasia - See Cerebro facio thoracic dysplasia
• Cerebro-frontofacial syndrome, type 3 - See Baraitser-Winter syndrome
• Cerebrohepatorenal syndrome - See Zellweger syndrome
• Cerebromedullospinal disconnection - See Locked-in 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
• Cerebro-oculo-hepato-renal syndrome - See Joubert syndrome with oculorenal anomalies
• Cerebrooculonasal syndrome
• 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 8 - See Northern epilepsy
• Ceroid lipofuscinosis neuronal Cathepsin D-deficient - See Neuronal ceroid lipofuscinosis 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
• Cervico-oculo-acoustic dysplasia - See Wildervanck syndrome
• Cervicooculoacoustic syndrome - See Wildervanck syndrome
• Cervico-oculo-acoustic syndrome - See Wildervanck syndrome
• CES - See Cat eye syndrome
• CESD - See Cholesteryl ester storage disease
• 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 Carey-Fineman-Ziter syndrome
• CFZS - See Carey-Fineman-Ziter syndrome
• CGH - See X-linked congenital generalized hypertrichosis
• CGL4 - See Congenital generalized lipodystrophy type 4
• CGM - See Congenital giant megaureter
• ChAc - See Chorea-acanthocytosis
• CHACS - See Curly hair-acral keratoderma-caries syndrome
• Chagas disease - not a rare disease
• CHAI - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• CHAMP1 gene mutation - See Autosomal dominant intellectual disability 40
• CHAMP1 mutations - See Autosomal dominant intellectual disability 40
• CHAMP1-associated intellectual disability syndrome - See Autosomal dominant intellectual disability 40
• Chanarin-Dorfman disease - See Chanarin-Dorfman syndrome
• Chanarin-Dorfman syndrome
• Chancroid
• Chandler syndrome - See Chandler's syndrome
• Chandler's syndrome
• Channelopathy-associated CIP - See Congenital insensitivity to pain
• Channelopathy-associated congenital insensitivity to pain - See Congenital insensitivity to pain
• Chaotic atrial tachycardia
• CHAR - See Char syndrome
• Char douglas dungan syndrome - See Extrasystoles short stature hyperpigmentation microcephaly
• Char syndrome
• Charcot disease - See Amyotrophic lateral sclerosis
• Charcot Marie Tooth disease - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease dominant intermediate 3 - See Autosomal dominant intermediate Charcot-Marie-Tooth
• Charcot Marie Tooth disease type 1A - See Charcot-Marie-Tooth disease type 1A
• Charcot Marie Tooth disease type 1B - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 1C - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 1D - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 1E - See Charcot-Marie-Tooth disease type 1E
• Charcot Marie Tooth disease type 1F - See Charcot-Marie-Tooth disease
• 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
• Charcot Marie Tooth disease type 2B2 - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 2C - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 2D - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 2E - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 2F - See Charcot-Marie-Tooth disease type 2F
• Charcot Marie Tooth disease type 2G - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 2H - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 2I - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 2J - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 2K - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 4A - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 4B1 - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 4B2 - See Charcot-Marie-Tooth disease type 4B2
• Charcot Marie Tooth disease type 4C - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease type 4E - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease X-linked 1 - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease X-linked recessive 2 - See Charcot-Marie-Tooth disease
• Charcot Marie Tooth disease X-linked recessive 3 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease - nephropathy - See Autosomal dominant intermediate Charcot-Marie-Tooth
• 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 type 1
• Charcot-Marie-Tooth disease type 1A
• Charcot-Marie-Tooth disease type 1B - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 1C - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 1D - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 1E
• Charcot-Marie-Tooth disease type 1F - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2
• Charcot-Marie-Tooth disease type 2A
• Charcot-Marie-Tooth disease type 2B
• Charcot-Marie-Tooth disease type 2B1 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2B2 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2C - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2D - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2E - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2F
• Charcot-Marie-Tooth disease type 2G - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2H - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2I - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2J - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2K - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2L - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2P
• Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 2R
• Charcot-Marie-Tooth disease type 3 - See Hypertrophic neuropathy of Dejerine-Sottas
• Charcot-Marie-Tooth disease type 4
• Charcot-Marie-Tooth disease type 4A - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 4B1 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 4B2
• Charcot-Marie-Tooth disease type 4C - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 4D - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 4E - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 4F - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 4H - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease type 4J - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease with deafness and mental retardation - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy - See Keratoderma palmoplantar spastic paralysis
• Charcot-Marie-Tooth disease, autosomal recessive, type 4g - See Neuropathy, hereditary motor and sensory, Russe type
• CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R - Another name for Charcot-Marie-Tooth disease type 2R
• 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
• Charcot-Marie-Tooth disease, axonal, Type 2B2 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, Type 2C - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, Type 2D - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, Type 2E - See Charcot-Marie-Tooth disease
• 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
• Charcot-Marie-Tooth disease, axonal, Type 2H - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, Type 2I - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, Type 2J - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, Type 2K - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, axonal, with vocal cord paresis - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, demyelinating, autosomal recessive - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H - See Charcot-Marie-Tooth disease
• 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
• Charcot-Marie-Tooth disease, demyelinating, Type 1C - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, demyelinating, Type 1D - See Charcot-Marie-Tooth disease
• 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
• CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C - See Autosomal dominant intermediate Charcot-Marie-Tooth
• Charcot-Marie-Tooth disease, Dominant Intermediate E - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F - See Autosomal dominant intermediate Charcot-Marie-Tooth
• 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
• Charcot-Marie-Tooth disease, neuronal, Type 2B2 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, neuronal, Type 2D - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, neuronal, Type 2F - See Charcot-Marie-Tooth disease type 2F
• Charcot-Marie-Tooth disease, recessive intermediate, A - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, recessive intermediate, B - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities - See Charcot-Marie-Tooth disease
• 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
• Charcot-Marie-Tooth disease, Type 4B - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth Disease, Type 4D - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, type 4g - See Neuropathy, hereditary motor and sensory, Russe type
• CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2 - See Charcot-Marie-Tooth disease type 4B2
• Charcot-Marie-Tooth disease, X-linked dominant, 6 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, X-linked recessive, 2 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, X-linked recessive, 3 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, X-linked recessive, 4 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, X-linked, 1 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant - See Charcot-Marie-Tooth disease type 1E
• Charcot-Marie-Tooth neuropathy type 1 - See Charcot-Marie-Tooth disease type 1
• Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis - See Autosomal dominant intermediate Charcot-Marie-Tooth
• Charcot-Marie-Tooth neuropathy X type 1 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth Neuropathy X Type 5 - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE - SeeAutosomal recessive Charcot-Marie-Tooth disease with hoarseness
• CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE A - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth neuropathy, type 2F - See Charcot-Marie-Tooth disease type 2F
• CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P - See Charcot-Marie-Tooth disease type 2P
• CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R - Another name for Charcot-Marie-Tooth disease type 2R
• CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 - See Charcot-Marie-Tooth disease type 4B2
• CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 - See Charcot-Marie-Tooth disease
• CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2 - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth peroneal muscular atrophy, X-linked - See Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth type 1 - See Charcot-Marie-Tooth disease type 1
• Charcot-Marie-Tooth type 2 - See Charcot-Marie-Tooth disease type 2
• Charcot-Marie-Toothe disease, axonal, type 2P - See Charcot-Marie-Tooth disease type 2P
• 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
• CHD2 encephalopathy - See CHD2 myoclonic encephalopathy
• CHD2 myoclonic encephalopathy
• CHD2-related neurodevelopmental disorders - See CHD2 myoclonic encephalopathy
• 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 Acroosteolysis dominant type
• 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
• CHI - See Congenital hyperinsulinism
• Chiari malformation - not a rare disease
• Chiari malformation type 1 - not a rare disease
• Chiari malformation type 2
• Chiari malformation type 3
• Chiari malformation type 4
• Chiari malformation type I - See Chiari malformation type 1 - not a rare disease
• 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 - not a rare disease
• 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 syndrome
• Childhood absence epilepsy - See Epilepsy juvenile absence
• Childhood acute lymphoblastic leukemia
• Childhood acute lymphocytic leukemia - See Childhood acute lymphoblastic leukemia
• Childhood ALL - See Childhood acute lymphoblastic leukemia
• Childhood apraxia of speech
• Childhood ataxia with central nervous system hypomyelination/vanishing white matter - See Leukoencephalopathy with vanishing white matter
• 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 brain stem glioma
• Childhood breast cancer - See Breast cancer, childhood
• Childhood Carcinoma of Liver Cell - See Childhood hepatocellular carcinoma
• 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 encephalopathy due to thiamine pyrophosphokinase deficiency
• Childhood esophageal cancer - See Esophageal cancer, childhood
• Childhood hepatocellular carcinoma
• Childhood Hepatoma - See Childhood hepatocellular carcinoma
• Childhood Hodgkin's lymphoma - See Hodgkin lymphoma, childhood
• Childhood hypophosphatasia
• Childhood Liver Cell Carcinoma - See Childhood hepatocellular carcinoma
• Childhood Lung Small Cell Carcinoma
• Childhood medulloblastoma - See Medulloblastoma, childhood
• Childhood Non-Hodgkin Lymphoma
• Childhood onset autosomal recessive slowly progressive spinocerebellar ataxia - See Spinocerebellar ataxia autosomal recessive 7
• Childhood ovarian cancer
• Childhood pheochromocytoma - See Pheochromocytoma, childhood
• Childhood schizophrenia - See Childhood-Onset Schizophrenia
• Childhood Small Cell Lung Cancer - See Childhood Lung Small Cell Carcinoma
• Childhood stomach cancer - See Stomach cancer, childhood
• Childhood stomach carcinoma - See Stomach cancer, childhood
• Childhood Supratentorial Embryonal Tumor, NOS - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Childhood Supratentorial PNET - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Childhood supratentorial primitive neuroectodermal tumors - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Childhood thyroid cancer - See Thyroid cancer, childhood
• Childhood-onset cerebral X-linked adrenoleukodystrophy
• Childhood-onset dystonia-28 - See DYT-KMT2B
• Childhood-onset epileptic encephalopathy - See CHD2 myoclonic encephalopathy
• Childhood-onset hypophosphatasia - See Childhood hypophosphatasia
• Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - See Childhood-onset neurodegeneration with brain atrophy
• Childhood-onset nemaline myopathy
• Childhood-onset neurodegeneration with brain atrophy
• Childhood-onset phosphoethanolaminuria - See Childhood hypophosphatasia
• Childhood-onset polyarteritis nodosa - See Adenosine Deaminase 2 deficiency
• Childhood-onset Rathburn disease - See Childhood hypophosphatasia
• Childhood-Onset Schizophrenia
• Children's interstitial lung disease
• CHIME syndrome - See Zunich neuroectodermal syndrome
• Chitayat Meunier Hodgkinson syndrome
• Chitayat-Hall syndrome - See Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
• 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 - See Myeloid sarcoma
• CHLS - See Aagenaes syndrome
• CHM - See Choroideremia
• CHN - See Charcot-Marie-Tooth disease
• Choanal atresia deafness cardiac defects dysmorphism - See Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
• Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism 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 - not a rare disease
• Cholera
• Cholestasis lymphedema syndrome - See Aagenaes syndrome
• Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency - See Congenital bile acid synthesis defect, type 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 Progressive familial intrahepatic cholestasis 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 4
• Cholestasis-pigmentary retinopathy-cleft palate syndrome - See Hardikar syndrome
• Cholesteatoma
• Cholesterol ester hydrolase deficiency - See Cholesteryl ester storage disease
• Cholesterol ester storage disease - See Cholesteryl ester storage disease
• Cholesterol pneumonia
• Cholesterol thesaurismosis - See Tangier disease
• Cholesteryl ester storage disease
• Cholinesterase 2 Deficiency - See Pseudocholinesterase deficiency