Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program C/1 ENGLISH

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







C/1



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• C syndrome
• C. perfringens infection - See Clostridium perfringens infection
• C. sordellii infection - See Clostridium sordellii infection
• C1q deficiency
• C1q nephropathy
• 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, 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 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
• Cafe au lait spots, multiple
• Cafe-au-lait spots with pulmonic stenosis - See Watson syndrome
• 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
• 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 - 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
• 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
• 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 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
• 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
• Cardiocranial syndrome, Pfeiffer type - See 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 1 deficiency
• Carnitine palmitoyl transferase IA deficiency - See Carnitine palmitoyltransferase I deficiency , muscle
• Carnitine palmitoyl transferase IA deficiency - See 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 - not a rare disease
• Carpal deformity micrognathia microstomia
• 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 (CEP)
• Carrington's Disease - See Chronic eosinophilic pneumonia (CEP)
• Carrington's pulmonary eosinophilia - See Chronic eosinophilic pneumonia (CEP)
• 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 hyperostosis frontalis dislocating patella - See Weleber Hecht Bigley syndrome
• Cataract mental retardation anal atresia urinary defects - See Karandikar Maria Kamble syndrome
• Cataract microcornea syndrome
• 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 - 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
• 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
• 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 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 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 Cutaneous collagenous vasculopathy
• CCV - See Cataract congenital Volkmann type
• 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