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

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



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 2/4

• 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
• 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
• Cerebroarthrodigital syndrome - See Spranger Schinzel Myers syndrome
• 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 Congenital hypomyelination neuropathy
• 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 abuse dwarfism - See Psychosocial short stature
• 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 onset autosomal recessive slowly progressive spinocerebellar ataxia - See Spinocerebellar ataxia autosomal recessive 7
• Childhood ovarian cancer
• Childhood pheochromocytoma - See Pheochromocytoma, childhood
• Childhood pineoblastoma - See Pineoblastoma, 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 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 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