List of rare diseases-C
From WikiMD's Food, Medicine & Wellness Encyclopedia
NIH genetic and rare disease info[edit source]
List of rare diseases-C is a rare disease.
- C syndrome
- C. perfringens infection
- C. sordellii infection
- C1q deficiency
- C1q nephropathy
- C8 alpha-gamma deficiency
- C8 beta deficiency
- C8 deficiency type I
- C8 deficiency type II
- C81 deficiency
- CAA, familial
- Cabezas syndrome
- Cabezas type of X-linked syndromic intellectual disability
- Cacchi Ricci disease
- Cacchi-Ricci disease
- Cacchi-Ricci syndrome
- CACH syndrome
- CACH/VWM
- CACH/VWM syndrome
- CACP syndrome
- CAD
- CADASIL
- CAD-CDG
- CADDS
- CADH deficiency
- CAEBV infection
- Caffey disease
- CAH
- CAH due to 11-beta-hydroxylase deficiency
- CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
- CAHTP
- CAID syndrome
- CAIS
- Calabro syndrome
- Calcaneonavicular coalition
- Calcification of joints and arteries; CALJA
- Calcifying Epithelial Odontogenic Tumor
- Calcifying epithelioma of Malherbe
- Calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia
- Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome
- Calciphylaxis
- Calcium gout
- Calcium gout, familial
- Calcium pyrophosphate arthropathy
- Calcium pyrophosphate arthropathy, familial
- Calderon Gonzalez-Cantu syndrome
- Calderón-González-Cantu syndrome
- California encephalitis
- Californian encephalitis
- Calloso-genital dysplasia
- Calpainopathy
- Calvarial hyperostosis
- Camera Lituania Cohen syndrome
- Camera Marugo Cohen syndrome
- CAMOS
- Campomelia Cumming type
- Campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys
- Campomelic dysplasia
- Campomelic dysplasia, mild
- Campomelic syndrome long limb type
- Camptobrachydactyly
- Camptocormia
- Camptocormism
- Camptodactyly - overgrowth - unusual facies
- Camptodactyly and sacral vertebral fusion (subtype)
- Camptodactyly arthropathy coxa vara pericarditis syndrome
- Camptodactyly arthropathy pericarditis syndrome
- 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
- Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
- Camptodactyly with Taurinuria
- Camptodactyly, cleft palate, and clubfoot
- Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
- Camptodactyly, joint contractures, facial skeletal defects
- Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
- Camptodactyly, tall stature, and hearing loss syndrome
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- Camptodactyly-ichthyosis syndrome
- Camptodactyly-overgrowth-unusual facies syndrome
- Camptodactyly-taurinuria
- Camptodactyly-taurinuria syndrome
- Camptomelic syndrome long limb type
- CAMS2
- CAMT
- Camurati Engelmann disease, type 2
- Camurati-Engelmann disease
- Canale-Smith syndrome
- Canaliculitis
- Canavan disease
- Canavan-van Bogaert-Bertrand disease
- Cancer of the anus
- Cancer of the fallopian tube
- Cancer of the oropharynx
- Cancer of the pancreas
- Cancer of the testes
- Cancer penis
- Cancers of the supraglottic larynx region
- Cancrum oris
- CANDF7
- Candida glabrata
- Candidiasis familial chronic mucocutaneous, autosomal dominant
- Candidiasis familial chronic mucocutaneous, autosomal recessive
- Candidiasis Familial, 7
- CANDLE syndrome
- Cane-cutter fever
- Canicola fever
- CANOMAD syndrome
- Cantalamessa Baldini Ambrosi syndrome
- Cantrell deformity
- Cantrell Haller Ravitsch syndrome
- Cantrell pentalogy
- Cantrell syndrome
- Cantu Sanchez-Corona Fragoso syndrome
- Cantu Sanchez-Corona Garcia-Cruz syndrome
- Cantu Sanchez-Corona Hernandez syndrome
- Cantu syndrome
- Cap disease
- Cap myopathy
- CAPA
- Capdepont teeth
- Capdepont teeth
- CAPED
- Capillary hemangioblastoma
- Capillary leak syndrome
- Capillary leak syndrome with monoclonal gammopathy
- Capillary lymphangioma
- Capillary lymphatic malformation
- Capillary malformation-arteriovenous malformation syndrome
- CAPOS
- CAPOS syndrome
- CAPS
- CAR
- CARASIL
- Carate
- Carbamoyl phosphate synthetase 1 deficiency
- Carbamyl phosphate synthetase (CPS) deficiency
- Carbohydrate deficient glycoprotein syndrome type
- Carbohydrate deficient glycoprotein syndrome type 1L
- Carbohydrate deficient glycoprotein syndrome type Ia
- Carbohydrate deficient glycoprotein syndrome type Ic
- Carbohydrate deficient glycoprotein syndrome type Id
- Carbohydrate deficient glycoprotein syndrome type Ie
- Carbohydrate deficient glycoprotein syndrome type If
- Carbohydrate deficient glycoprotein syndrome type Ig
- Carbohydrate deficient glycoprotein syndrome type Ih
- Carbohydrate deficient glycoprotein syndrome type Ii
- Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
- Carbohydrate deficient glycoprotein syndrome type IIa
- Carbohydrate deficient glycoprotein syndrome type IIb
- Carbohydrate deficient glycoprotein syndrome type IId
- Carbohydrate deficient glycoprotein syndrome type IIe
- Carbohydrate deficient glycoprotein syndrome type IIf
- Carbohydrate deficient glycoprotein syndrome type IIg
- Carbohydrate deficient glycoprotein syndrome type IIh
- Carbohydrate deficient glycoprotein syndrome type IIi
- Carbohydrate deficient glycoprotein syndrome type IIj
- Carbohydrate deficient glycoprotein syndrome type IIk
- Carbohydrate deficient glycoprotein syndrome type Ij
- Carbohydrate deficient glycoprotein syndrome type Ik
- Carbohydrate deficient glycoprotein syndrome type IL
- Carbohydrate deficient glycoprotein syndrome type Im
- Carbohydrate deficient glycoprotein syndrome type In
- Carbohydrate deficient glycoprotein syndrome type Io
- Carbohydrate deficient glycoprotein syndrome type Ip
- Carbohydrate deficient glycoprotein syndrome type Ir
- Carbohydrate deficient glycoprotein syndrome type Iu
- Carbohydrate deficient glycoprotein syndrome type Iy
- Carbohydrate deficient glycoprotein syndrome type Iz
- Carbohydrate inducible hyperlipemia
- Carbohydrate intolerance of glucose galactose
- Carbohydrate-deficient glycoprotein syndrome type 1A
- Carbohydrate-deficient glycoprotein syndrome type 1A (formerly)
- Carbohydrate-deficient glycoprotein syndrome type 1B
- Carbohydrate-deficient glycoprotein syndrome type 1C
- Carbohydrate-deficient glycoprotein syndrome type 1E
- Carbohydrate-deficient glycoprotein syndrome type 1F
- Carbohydrate-deficient glycoprotein syndrome type 1I
- Carbohydrate-deficient glycoprotein syndrome type 2
- Carbohydrate-deficient glycoprotein syndrome type IV (formerly)
- Carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)
- CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2, FORMERLY
- Carbohydrate-deficient glycoprotein syndrome, type V (formerly)
- Carbohydrate-deficient glycoprotein syndromes
- Carbon baby syndrome
- Carbon Pneumoconiosis
- Carbonic anhydrase 2 deficiency
- Carbonic anhydrase VA deficiency
- Carcinoid somatostatinoma
- Carcinoid syndrome
- Carcinoid tumor
- Carcinoid tumor childhood
- Carcinoid tumor syndrome
- Carcinoma of the penis
- Carcinoma of the vocal tract
- Carcinoma showing thymus-like differentiation
- Carcinoma, merkel cell
- Carcinoma, squamous cell- not a rare disease.
- Carcinoma, squamous cell of head and neck- not a rare disease.
- Carcinosarcoma
- Carcinosarcoma of the corpus uteri
- CARD9 deficiency
- Cardiac anomalies-developmental delay-facial dysmorphism syndrome
- Cardiac arrhythmia, ankyrin-B-related
- Cardiac diverticulum
- Cardiac hydatid cysts with intracavitary expansion
- Cardiac hydatidosis
- Cardiac rupture
- Cardiac valvular dysplasia, X-linked
- Cardiac-limb syndrome
- Cardiac-Valvular EDS
- Cardiac-Valvular Ehlers-Danlos syndrome
- Cardioauditory syndrome of Jervell and Lange-Nielsen
- Cardioauditory syndrome of Sanchez Cascos
- Cardiocranial syndrome, Pfeiffer type
- Cardioencephalomyopathy
- Cardiofacial syndrome short limbs
- Cardiofaciocutaneous syndrome
- Cardio-facio-cutaneous syndrome
- Cardiogenital syndrome
- Cardiomegalia glycogenica diffusa
- Cardiomelic syndrome Stratton Koehler type
- Cardiomyopathic lentiginosis
- cardiomyopathic mitochondrial DNA depletion syndrome 10
- Cardiomyopathy and cataract
- Cardiomyopathy and deafness due to MTTK 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
- Cardiomyopathy hypogonadism metabolic anomalies
- Cardiomyopathy spherocytosis
- Cardiomyopathy, dilated, 1S
- Cardiomyopathy, familial dilated
- Cardiomyopathy, fatal fetal, due to myocardial calcification
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardioskeletal syndrome Kuwaiti type
- Cardiospasm
- Cardiospondylocarpofacial syndrome
- Cardiovascular Gaucher disease
- Cardiovertebral syndrome
- Carey Fineman Ziter syndrome
- Carey-Fineman-Ziter syndrome
- Carey-Fineman-Ziter syndrome
- Carinatum deformity of the chest
- Carmi syndrome
- Carnevale Canun Mendoza syndrome
- Carnevale Hernandez Castillo syndrome
- Carney complex
- Carney dyad
- Carney myxoma-endocrine complex
- Carney syndrome
- Carney triad
- Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma
- Carney-Stratakis syndrome
- Carnitine acetyltransferase deficiency
- Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine palmitoyl transferase IA deficiency
- Carnitine palmitoyltransferase 1A deficiency
- Carnitine palmitoyltransferase 2 deficiency
- Carnitine palmitoyltransferase deficiency type 2
- Carnitine palmitoyltransferase II (CPT II) deficiency
- Carnitine plasma-membrane transporter deficiency
- Carnitine transporter deficiency
- Carnitine uptake defect
- Carnitine uptake deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinase deficiency
- Carnosinemia
- Caroli disease
- Caroli disease isolated
- Carotid body paraganglioma
- Carotid body tumor
- Carotid body tumors
- Carotidynia- not a rare disease.
- carpal synostosis with dysplastic elbow joints and brachydactyly
- Carpenter syndrome
- Carpenter syndrome 1
- Carpo tarsal osteolysis recessive
- Carpotarsal osteochondromatosis
- Carrington syndrome
- Carrington's Disease
- Carrington's pulmonary eosinophilia
- Cartilage collagen
- Cartilage hair hypoplasia like syndrome
- Cartilage-hair hypoplasia
- Cartilage-hair hypoplasia variant, skeletal manifestations only
- Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency
- Cartilaginous cancer
- Cartilaginous or bony projections into the tracheobronchial lumen
- Cartwright Nelson Fryns syndrome
- Carvajal syndrome
- CAS
- CASIL
- CASK-Related Disorders
- CASM syndrome
- Caspase 8 deficiency
- Caspase-8 deficiency
- CASS
- Cassavism
- Cast syndrome
- CASTLE
- Castleman disease
- Castro Gago-Pombo-Novo syndrome
- Cat cry syndrome
- Cat eye syndrome
- Cat scratch disease
- Cat scratch fever
- Catalase deficiency
- Catamenial pneumothorax
- Cataract 24, anterior polar
- Cataract 40, X-linked
- Cataract and cardiomyopathy
- Cataract and congenital ichthyosis
- Cataract anterior polar
- Cataract ataxia deafness
- Cataract ataxia deafness syndrome
- Cataract congenital X-linked
- Cataract congenital autosomal dominant
- Cataract congenital dominant non nuclear
- Cataract congenital Volkmann type
- Cataract dental syndrome
- Cataract Hutterite type
- Cataract mental retardation anal atresia urinary defects
- Cataract microcornea syndrome
- Cataract skeletal anomalies
- Cataract X-linked with Hutchinsonian teeth
- Cataract, alopecia, sclerodactyly
- Cataract, alopecia, sclerodactyly syndrome
- Cataract, Anterior Polar, 2
- Cataract, autosomal recessive congenital 2
- Cataract, congenital, blue dot type 1
- Cataract, congenital, cerulean type 1
- Cataract, congenital, with microcornea or slight microphthalmia
- Cataract, polymorphic congenital
- 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
- Cataract-ataxia-deafness-retardation syndrome
- Cataract-glaucoma
- Cataract-hyperferritinemia syndrome
- Cataract-intellectual disability-hypogonadism syndrome
- Cataracts and testicular failure
- Cataracts, aberrant oral frenula, and growth retardation
- Cataracts, ataxia, short stature, and mental retardation
- Cataracts, motor neuronopathy, short stature and skeletal abnormalities
- Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities
- Cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental
- Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature
- Catastrophic antiphospholipid antibody syndrome
- Catastrophic antiphospholipid syndrome
- Catatonia of Kraepelin
- Catatrichy
- CATC2
- CATCH22
- Catecholamine-induced polymorphic ventricular tachycardia
- Catecholaminergic polymorphic ventricular tachycardia
- Catel Manzke syndrome
- Catel-Hempel syndrome
- Cathepsin A deficiency of
- Cathepsin D deficiency
- CATSHL syndrome
- Cauda equina syndrome
- Caudal appendage deafness
- Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation
- Caudal duplication
- Caudal dysgenesis familial type
- Caudal dysplasia
- Caudal regression sequence
- Caudal regression syndrome
- Caused by deficiency of selenium in the diet
- CA-VA Deficiency
- CAVC
- CAVD
- Cavernoma- not a rare disease.
- Cavernous angioma- not a rare disease.
- Cavernous haemangioma of the rectum
- Cavernous lymphangioma
- Cayler cardiofacial syndrome
- Cazenave's Vitiligo- not a rare disease.
- CBAS1
- CBAS2
- CBAS4
- CBAVD
- CBBM
- CBFB-MYH11
- CBG deficiency
- CBGD
- cblC
- CblD defect
- cblG
- CblJ defects
- CBPS
- CBS
- CBS deficiency
- CBT
- CCA
- CCA1
- CCAL1
- CCAL2
- CCD
- CCE
- CCGE syndrome
- CCHS
- CCM- not a rare disease.
- CCM syndrome
- CCMS
- CCO
- CCP
- CCT
- CCV
- CCV
- CD
- CD3 deficiency
- CD4 deficiency
- CD4+/CD56+ hematodermic neoplasm
- CDA
- CDA and CRMO
- CDA I
- CDA II
- CDA III
- CDA type II
- CDAGS syndrome
- CDAN2
- CDB1
- CDB2
- CDC
- CDG
- CDG 1A
- CDG 1B
- CDG 1C
- CDG 1D
- CDG 1E
- CDG 1F
- CDG 1G
- CDG 1H
- CDG 1I
- CDG 1J
- CDG 1K
- CDG 1L
- CDG 2A
- CDG 2B
- CDG 2C
- CDG 2D
- CDG 2E
- CDG 2G
- CDG gastrointestinal type
- CDG IIf
- CDG IIh
- CDG IIi
- CDG IIl
- CDG Im
- CDG Io
- CDG IY
- CDG syndrome type 3
- CDG syndrome type 4
- CDG syndrome type Ia
- CDG syndrome type Ic
- CDG syndrome type Id
- CDG syndrome type Ie
- CDG syndrome type If
- CDG syndrome type Ig
- CDG syndrome type Ih
- CDG syndrome type Ii
- CDG syndrome type IIa
- CDG syndrome type IIb
- CDG syndrome type IId
- CDG syndrome type IIe
- CDG syndrome type IIf
- CDG syndrome type IIg
- CDG syndrome type IIh
- CDG syndrome type IIi
- CDG syndrome type IIj
- CDG syndrome type IIk
- CDG syndrome type IIm
- CDG syndrome type Ij
- CDG syndrome type Ik
- CDG syndrome type IL
- CDG syndrome type Im
- CDG syndrome type In
- CDG syndrome type Io
- CDG syndrome type Ip
- CDG syndrome type Iq
- CDG syndrome type Ir
- CDG syndrome type Is
- CDG syndrome type It
- CDG syndrome type Iu
- CDG syndrome type Iy
- CDG syndrome type Iz
- CDG X
- CDG1(DPM3)
- CDG1A
- CDG1B
- CDG1C
- CDG1D
- CDG1E
- CDG1F
- CDG1G
- CDG1H
- CDG1I
- CDG1J
- CDG1K
- CDG1L
- CDG1M
- CDG1N
- CDG1O
- CDG1P
- CDG1Q
- CDG1R
- CDG1S
- CDG1T
- CDG1U
- CDG1X
- CDG1Y
- CDG1Z
- CDG2A
- CDG2B
- CDG2C
- CDG2D
- CDG2E
- CDG2F
- CDG2G
- CDG2H
- CDG2I
- CDG2J
- CDG2K
- CDG2L
- CDG2M
- CDGDL
- CDGG1
- CDG-Ia
- CDG-Ic
- CDG-Id
- CDG-Ie
- CDG-If
- CDG-Ig
- CDG-Ih
- CDG-Ii
- CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME
- CDG-IIa
- CDG-IIb
- CDG-IId
- CDG-IIe
- CDG-IIf
- CDG-IIg
- CDG-IIh
- CDG-IIi
- CDG-IIj
- CDG-IIk
- CDGIIl
- CDG-IIm
- CDG-Ij
- CDG-Ik
- CDG-IL
- CDGIm
- CDG-Im
- CDG-In
- CDGIN
- CDGIo
- CDG-Io
- CDG-Ip
- CDGIq
- CDG-Iq
- CDG-Ir
- CDG-Is
- CDG-It
- CDG-Iu
- CDGIw
- CDGIx
- CDGIy
- CDG-Iy
- CDG-Iz
- CDGS2
- CDGS4 (formerly)
- CDGS5 (formerly)
- CDH
- CDHS
- CDK4 linked melanoma
- CDKL5
- CDKL5 deficiency
- CDKL5 deficiency disorder
- CDKL5 disorder
- CDKL5-related disorder
- CDL1
- CDLS
- CDO syndrome
- CDPD
- CDPX1
- CDPX2
- CDPXD
- CDRB
- CDS
- CDT
- CDTB
- CEBV
- CED
- CED2
- CEDNIK syndrome
- Celiac artery compression syndrome
- Celiac axis syndrome
- Celiac disease- not a rare disease.
- Celiac disease epilepsy occipital calcifications
- Celiac sprue- not a rare disease.
- Cellular ependymoma (histologic variant)
- Celsus' Vitiligo- not a rare disease.
- Cenani syndactylism
- Cenani-Lenz type syndactyly
- Cennamo Gangemi syndrome
- Central areolar choroidal dystrophy
- Central areolar pigment epithelial dystrophy
- Central centrifugal alopecia
- Central centrifugal cicatricial alopecia
- Central congenital hypothyroidism
- Central core disease
- Central core disease of muscle
- Central diabetes insipidus
- Central nervous system epidermoid cyst
- Central nervous system germinoma
- Central neurocytoma
- Central pain syndrome
- Central pontine myelinolysis- not a rare disease.
- Central post-stroke pain (subtype)
- Central serous chorioretinopathy
- Central serous chorioretinopathy after bone marrow transplantation
- Central serous choroidopathy
- Centrifugal lipodystrophy (subtype)
- Centromeric instability, immunodeficiency syndrome
- Centronuclear myopathy
- CEOT
- CEP
- Cephalocele
- Cephaloskeletal dysplasia
- CEPS
- Ceramidase deficiency
- Ceramide trihexosidase deficiency
- Cercarial Dermatitis
- Cercopithecine herpesvirus 1 infection
- Cerebellar agenesis
- Cerebellar astrocytoma, childhood
- Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
- Cerebellar ataxia - ectodermal dysplasia
- Cerebellar ataxia - hypogonadism
- Cerebellar ataxia and hypogonadotropic hypogonadism
- Cerebellar ataxia autosomal dominant FGF14-related
- Cerebellar ataxia early onset with retained tendon reflex
- Cerebellar ataxia early-onset nonprogressive
- Cerebellar ataxia ectodermal dysplasia
- Cerebellar ataxia infantile nonprogressive autosomal recessive
- Cerebellar ataxia infantile with progressive external ophthalmoplegia
- Cerebellar ataxia with extrapyramidal involvement early-onset
- Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities
- Cerebellar ataxia with neuronal migration defect
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
- Cerebellar ataxia, autosomal dominant with mental retardation
- Cerebellar ataxia, cataract, deafness, and dementia or psychosis
- Cerebellar ataxia, paroxysmal, Acetazolamide-responsive
- Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Cerebellar ataxia-ectodermal dysplasia syndrome
- Cerebellar ataxia-hypogonadism syndrome
- Cerebellar atrophy with progressive microcephaly
- Cerebellar degeneration
- Cerebellar degeneration, subacute
- Cerebellar disorder, nonprogressive, with mental retardation
- Cerebellar granular cell hypoplasia and mental retardation, congenital
- Cerebellar hypoplasia
- Cerebellar hypoplasia tapetoretinal degeneration
- Cerebellar hypoplasia with endosteal sclerosis
- Cerebellar hypoplasia with pancytopenia
- Cerebellar hypoplasia, nonprogressive Norman type
- Cerebellar hypoplasia, VLDLR associated
- Cerebellar liponeurocytoma
- Cerebellar vermis agenesis
- Cerebellar vermis aplasia
- Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
- Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
- Cerebello-oculocutaneous telangiectasia
- Cerebellooculorenal syndrome
- Cerebello-oculo-renal syndrome
- Cerebellooculorenal syndrome 1
- Cerebellooculorenal syndrome 2
- Cerebelloolivary atrophy
- Cerebello-olivary atrophy
- Cerebelloparenchymal disorder 1
- Cerebelloparenchymal disorder 3
- Cerebelloparenchymal disorder 4
- Cerebellopathy, hereditary paroxysmal
- Cerebellopontine angle tumor
- Cerebellotrigeminal dermal dysplasia
- Cerebellotrigeminal-dermal dysplasia
- Cerebellotrigeminal-dermal dysplasia syndrome
- Cerebellum agenesis hydrocephaly
- Cerebral amyloid angiopathy
- Cerebral amyloid angiopathy, British type
- Cerebral amyloid angiopathy, familial
- cerebral amyloid angiopathy, genetic
- Cerebral aneurysm-cirrhosis syndrome
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral arteriovenous malformation
- Cerebral astroblastoma
- Cerebral astrocytoma, childhood
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral calcification cerebellar hypoplasia
- Cerebral calcification nonarteriosclerotic idiopathic adult-onset
- Cerebral calcification nonarteriosclerotic idiopathic childhood-onset
- Cerebral calcifications opalescent teeth phosphaturia
- Cerebral cavernous hemangioma- not a rare disease.
- Cerebral cavernous malformation- not a rare disease.
- Cerebral cholesterinosis
- Cerebral creatine deficiency syndrome 2
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- Cerebral folate deficiency
- Cerebral folate deficiency syndrome
- Cerebral folate transport deficiency
- Cerebral gigantism
- Cerebral gigantism jaw cysts
- Cerebral malformation, seizures, hypertrichosis, and overlapping fingers
- Cerebral palsy- not a rare disease.
- Cerebral palsy ataxic
- Cerebral palsy athetoid
- Cerebral palsy dyskinetic
- Cerebral palsy spastic diplegic
- Cerebral palsy spastic hemiplegic
- Cerebral palsy spastic monoplegic
- Cerebral palsy spastic quadriplegic
- Cerebral palsy, spastic quadriplegic, 4 (formerly)
- Cerebral sarcoma
- Cerebral sclerosis diffuse metachromatic form
- Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
- Cerebral ventricle cancer
- Cerebral, ocular, dental, auricular, and skeletal syndrome
- Cerebro facio thoracic dysplasia
- Cerebro-costo-mandibular syndrome
- Cerebrocostomandibular syndrome
- Cerebrocostomandibular-like syndrome
- Cerebrofacial arteriovenous metameric syndrome type 2
- Cerebrofacioarticular syndrome
- Cerebro-facio-articular syndrome
- Cerebro-facio-articular syndrome of Van Maldergem
- Cerebrofaciothoracic dysplasia
- Cerebro-frontofacial syndrome, type 3
- Cerebrohepatorenal syndrome
- Cerebromedullospinal disconnection
- Cerebromuscular dystrophy, Fukuyama type
- Cerebroocular dysgenesis
- Cerebroocular dysplasia muscular dystrophy syndrome
- Cerebro-oculo-dento-auriculo-skeletal syndrome
- Cerebro-oculo-facio-skeletal syndrome
- Cerebro-oculo-hepato-renal syndrome
- Cerebrooculonasal syndrome
- Cerebroosteonephosis syndrome
- Cerebroretinal vasculopathy, hereditary
- Cerebroside lipidosis syndrome
- Cerebroside sulfatase deficiency
- Cerebrospinal fluid leak
- Cerebrotendinous xanthomatosis
- Cerebrovascular disease with thin skin, alopecia, and disc disease
- Cerebro-vascular lesions and livedo reticularis
- Ceroid lipofuscinosis neuronal 1
- Ceroid lipofuscinosis neuronal 8
- Ceroid lipofuscinosis neuronal Cathepsin D-deficient
- Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant
- Ceroid lipofuscinosis, neuronal, Parry type
- Ceroid storage disease
- Cerulean cataract
- Ceruloplasmin deficiency
- Cervical dystonia
- Cervical hypertrichosis peripheral neuropathy
- Cervical intraepithelial neoplasia
- Cervical lymphocele with bowed long bones
- Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
- Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction
- Cervical vertebral fusion
- Cervico-oculo-acoustic dysplasia
- Cervicooculoacoustic syndrome
- Cervico-oculo-acoustic syndrome
- CES
- CESD
- CF
- CFC syndrome
- CFD1
- CFEOM-U
- CFND
- CFNS
- CFTDM
- CFZ syndrome
- CFZS
- CGH
- CGL4
- CGM
- ChAc
- CHACS
- Chagas disease- not a rare disease.
- CHAI
- CHAMP1 gene mutation
- CHAMP1 mutations
- CHAMP1-associated intellectual disability syndrome
- Chanarin-Dorfman disease
- Chanarin-Dorfman syndrome
- Chancroid
- Chandler syndrome
- Chandler's syndrome
- Channelopathy-associated CIP
- Channelopathy-associated congenital insensitivity to pain
- Chaotic atrial tachycardia
- CHAR
- Char douglas dungan syndrome
- Char syndrome
- Charcot disease
- Charcot Marie Tooth disease
- Charcot Marie Tooth disease dominant intermediate 3
- Charcot Marie Tooth disease type 1A
- Charcot Marie Tooth disease type 1B
- Charcot Marie Tooth disease type 1C
- Charcot Marie Tooth disease type 1D
- Charcot Marie Tooth disease type 1E
- Charcot Marie Tooth disease type 1F
- Charcot Marie Tooth disease type 2A
- Charcot Marie Tooth disease type 2B
- Charcot Marie Tooth disease type 2B1
- Charcot Marie Tooth disease type 2B2
- Charcot Marie Tooth disease type 2C
- Charcot Marie Tooth disease type 2D
- Charcot Marie Tooth disease type 2E
- Charcot Marie Tooth disease type 2F
- Charcot Marie Tooth disease type 2G
- Charcot Marie Tooth disease type 2H
- Charcot Marie Tooth disease type 2I
- Charcot Marie Tooth disease type 2J
- Charcot Marie Tooth disease type 2K
- Charcot Marie Tooth disease type 4A
- Charcot Marie Tooth disease type 4B1
- Charcot Marie Tooth disease type 4B2
- Charcot Marie Tooth disease type 4C
- Charcot Marie Tooth disease type 4E
- Charcot Marie Tooth disease X-linked 1
- Charcot Marie Tooth disease X-linked recessive 2
- Charcot Marie Tooth disease X-linked recessive 3
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease - nephropathy
- Charcot-Marie-Tooth Disease (Variant)
- Charcot-Marie-Tooth disease and deafness
- Charcot-Marie-Tooth disease type 1
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1B
- Charcot-Marie-Tooth disease type 1C
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 2
- Charcot-Marie-Tooth disease type 2A
- Charcot-Marie-Tooth disease type 2B
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 2B2
- Charcot-Marie-Tooth disease type 2C
- Charcot-Marie-Tooth disease type 2D
- Charcot-Marie-Tooth disease type 2E
- Charcot-Marie-Tooth disease type 2F
- Charcot-Marie-Tooth disease type 2G
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 2I
- Charcot-Marie-Tooth disease type 2J
- Charcot-Marie-Tooth disease type 2K
- Charcot-Marie-Tooth disease type 2L
- Charcot-Marie-Tooth disease type 2N
- Charcot-Marie-Tooth disease type 2O
- Charcot-Marie-Tooth disease type 2P
- Charcot-Marie-Tooth disease type 2Q
- Charcot-Marie-Tooth disease type 2R
- Charcot-Marie-Tooth disease type 3
- Charcot-Marie-Tooth disease type 4
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B1
- Charcot-Marie-Tooth disease type 4B2
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease type 4D
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4F
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Charcot-Marie-Tooth disease with deafness and mental retardation
- Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy
- Charcot-Marie-Tooth disease, autosomal recessive, type 4g
- CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H
- CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
- 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
- Charcot-Marie-Tooth disease, axonal, Type 2B
- Charcot-Marie-Tooth disease, axonal, Type 2B1
- Charcot-Marie-Tooth disease, axonal, Type 2B2
- Charcot-Marie-Tooth disease, axonal, Type 2C
- Charcot-Marie-Tooth disease, axonal, Type 2D
- Charcot-Marie-Tooth disease, axonal, Type 2E
- Charcot-Marie-Tooth disease, axonal, Type 2F
- Charcot-Marie-Tooth disease, axonal, Type 2G
- Charcot-Marie-Tooth disease, axonal, Type 2H
- Charcot-Marie-Tooth disease, axonal, Type 2I
- Charcot-Marie-Tooth disease, axonal, Type 2J
- Charcot-Marie-Tooth disease, axonal, Type 2K
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
- Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive
- Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
- Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
- Charcot-Marie-Tooth disease, demyelinating, autosomal recessive
- CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C
- CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H
- Charcot-Marie-Tooth disease, demyelinating, type 1A
- Charcot-Marie-Tooth disease, demyelinating, Type 1B
- Charcot-Marie-Tooth disease, demyelinating, Type 1C
- Charcot-Marie-Tooth disease, demyelinating, Type 1D
- Charcot-Marie-Tooth disease, demyelinating, Type 1E
- Charcot-Marie-Tooth disease, demyelinating, Type 1F
- CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A
- CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
- Charcot-Marie-Tooth disease, Dominant Intermediate E
- CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
- Charcot-Marie-Tooth disease, neuronal, Type 2A
- Charcot-Marie-Tooth disease, neuronal, Type 2B
- Charcot-Marie-Tooth disease, neuronal, Type 2B1
- Charcot-Marie-Tooth disease, neuronal, Type 2B2
- Charcot-Marie-Tooth disease, neuronal, Type 2D
- Charcot-Marie-Tooth disease, neuronal, Type 2F
- Charcot-Marie-Tooth disease, recessive intermediate, A
- Charcot-Marie-Tooth disease, recessive intermediate, B
- Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
- Charcot-Marie-Tooth Disease, type 3
- Charcot-Marie-Tooth disease, Type 4A, axonal form
- Charcot-Marie-Tooth disease, Type 4B
- Charcot-Marie-Tooth Disease, Type 4D
- Charcot-Marie-Tooth disease, type 4g
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
- CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2
- Charcot-Marie-Tooth disease, X-linked dominant, 6
- Charcot-Marie-Tooth disease, X-linked recessive, 2
- Charcot-Marie-Tooth disease, X-linked recessive, 3
- Charcot-Marie-Tooth disease, X-linked recessive, 4
- Charcot-Marie-Tooth disease, X-linked, 1
- Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
- Charcot-Marie-Tooth neuropathy type 1
- Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
- Charcot-Marie-Tooth neuropathy X type 1
- Charcot-Marie-Tooth Neuropathy X Type 5
- CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N
- CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O
- CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
- CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE A
- CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B
- CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B
- Charcot-Marie-Tooth neuropathy, type 2F
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R - Another name for Charcot-Marie-Tooth disease type 2R
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H
- CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
- CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2
- Charcot-Marie-Tooth peroneal muscular atrophy, X-linked
- Charcot-Marie-Tooth type 1
- Charcot-Marie-Tooth type 2
- Charcot-Marie-Toothe disease, axonal, type 2P
- Charcot-Marie-Tooth-Roussy-Levy Disease
- CHARGE association
- CHARGE like syndrome X-linked
- CHARGE syndrome
- Charles Bonnet syndrome
- Charlevoix disease
- Charlevoix-Saguenay spastic ataxia
- Charlie M syndrome
- CHD2 encephalopathy
- CHD2 myoclonic encephalopathy
- CHD2-related neurodevelopmental disorders
- CHED2
- Chediak Higashi syndrome
- Chediak-Higashi syndrome
- Cheilitis glandularis
- Cheilitis Granulomatosa
- Chemke Oliver Mallek syndrome
- Chemke syndrome
- Chemke-Oliver-Mallek syndrome
- Chemodectomas
- Cheney syndrome
- Cherry red spot myoclonus syndrome
- Cherubism
- Cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth
- Cherubism, optic atrophy and short stature
- Chester porphyria
- Cheveux incoiffables
- CHH
- CHHV
- CHI
- 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- not a rare disease.
- Chiari malformation type II
- Chiari malformation type III
- Chiari malformation type IV
- Chiari type I malformation- not a rare disease.
- Chiari type II malformation
- Chiari type III malformation
- Chiari type IV malformation
- Chiari-Frommel syndrome
- Chigger flea
- CHIK
- Chikungunya
- Chikungunya fever
- Chikungunya virus infection
- CHIKV infection
- Chilaiditi syndrome
- Chilblains
- ChILD
- CHILD syndrome
- Childhood absence epilepsy
- Childhood acute lymphoblastic leukemia
- Childhood acute lymphocytic leukemia
- Childhood ALL
- Childhood apraxia of speech
- Childhood ataxia with central nervous system hypomyelination/vanishing white matter
- Childhood ataxia with diffuse central nervous system hypomyelination
- Childhood brain stem glioma
- Childhood Carcinoma of Liver Cell
- Childhood cerebral ALD
- Childhood cerebral astrocytoma
- Childhood disintegrative disorder
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Childhood hepatocellular carcinoma
- Childhood Hepatoma
- Childhood hypophosphatasia
- Childhood Liver Cell Carcinoma
- Childhood medulloblastoma
- Childhood onset autosomal recessive slowly progressive spinocerebellar ataxia
- Childhood pheochromocytoma
- Childhood schizophrenia
- Childhood Supratentorial Embryonal Tumor, NOS
- Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
- Childhood Supratentorial PNET
- Childhood supratentorial primitive neuroectodermal tumors
- Childhood-onset cerebral X-linked adrenoleukodystrophy
- Childhood-onset dystonia-28
- Childhood-onset epileptic encephalopathy
- Childhood-onset hypophosphatasia
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Childhood-onset nemaline myopathy
- Childhood-onset neurodegeneration with brain atrophy
- Childhood-onset phosphoethanolaminuria
- Childhood-onset polyarteritis nodosa
- Childhood-onset Rathburn disease
- Childhood-Onset Schizophrenia
- Children's interstitial lung disease
- CHIME syndrome
- Chitayat Meunier Hodgkinson syndrome
- Chitayat-Hall syndrome
- Chitty Hall Webb syndrome
- Chitty-Hall-Baraitser syndrome
- CHL
- Chlamydia psittaci
- Chlamydial pneumonia
- Chloride shunt syndrome
- Chloridorrhea, congenital
- Chloroma
- CHLS
- CHM
- CHN
- Choanal atresia deafness cardiac defects dysmorphism
- Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- Choked disk
- Cholangitis, primary sclerosing
- Cholecystitis
- Choledochal cyst
- Choledochocele
- Cholemia, familial- not a rare disease.
- Cholera
- Cholestasis lymphedema syndrome
- Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
- Cholestasis with peripheral pulmonary stenosis
- Cholestasis, benign recurrent intrahepatic 1
- Cholestasis, benign recurrent intrahepatic 2
- Cholestasis, fatal intrahepatic
- Cholestasis, intrahepatic of pregnancy
- Cholestasis, intrahepatic, with defective conversion of
- Cholestasis, progressive familial intrahepatic 4
- Cholestasis-pigmentary retinopathy-cleft palate syndrome
- Cholesteatoma
- Cholesterol ester hydrolase deficiency
- Cholesterol ester storage disease
- Cholesterol pneumonia
- Cholesterol thesaurismosis
- Cholesteryl ester storage disease
- Cholinesterase 2 Deficiency
- Chondroblastoma
- Chondrocalcinosis 1
- Chondrocalcinosis 2
- Chondrocalcinosis due to apatite crystal deposition
- Chondrocalcinosis familial articular
- Chondrocalcinosis with early-onset osteoarthritis
- Chondrodysplasia acromesomelic with genital anomalies
- Chondrodysplasia Blomstrand type
- Chondrodysplasia calcificans metaphysealis
- Chondrodysplasia lethal neonatal with snail like pelvis
- Chondrodysplasia lethal recessive
- Chondrodysplasia punctata
- Chondrodysplasia punctata 1 X-linked recessive
- Chondrodysplasia punctata 1, X-linked recessive
- Chondrodysplasia punctata brachytelephalangic
- Chondrodysplasia punctata Sheffield type
- Chondrodysplasia punctata syndrome
- Chondrodysplasia punctata with steroid sulfatase deficiency
- Chondrodysplasia punctata, brachytelephalangic
- Chondrodysplasia punctata, humero-metacarpal type
- Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate
- Chondrodysplasia punctata, x-linked dominant
- Chondrodysplasia situs inversus imperforate anus polydactyly
- Chondrodysplasia with joint dislocations, GPAPP type
- Chondrodysplasia, Grebe type
- Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs
- Chondrodystrophic myotonia
- Chondrodystrophy
- Chondrodystrophy with sensorineural deafness
- Chondroectodermal dysplasia
- Chondroectodermal dysplasia-like syndrome
- Chondrogenesis imperfecta
- Chondroma
- Chondropathia tuberosa
- Chondrosarcoma
- CHOPS syndrome
- Chordoid glioma of the third ventricle
- Chordoma
- Chorea acanthocytosis
- Chorea familial benign
- Chorea, remitting with nystagmus and cataracts
- Chorea-acanthocytosis
- Choreoacanthocytosis
- Choreoacanthocytosis amyotrophic
- Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
- Choreoathetosis self-mutilation syndrome
- Choreoathetosis with mental retardation X- linked
- Choreoathetosis-hypothyroidism-neonatal respiratory distress
- Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
- Choriocarcinoma
- Chorioretinal atrophy, progressive bifocal
- Chorioretinal coloboma with cerebellar vermis aplasia
- Chorioretinal dysplasia-microcephaly-mental retardation syndrome
- Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
- Chorioretinitis
- Choroid plexus carcinoma
- Choroid plexus cyst
- Choroid plexus papilloma
- Choroidal atrophy alopecia
- Choroidal coloboma
- Choroidal dystrophy central areolar
- Choroideremia
- Choroideremia deafness obesity
- Choroideremia hypopituitarism
- Choroideremia, obesity, and congenital deafness
- Choroiditis
- Choroido-cerebral calcification syndrome with retardation
- Choroidoretinal degeneration with retinal reflex in heterozygous women
- Chotzen syndrome
- CHR
- ChRCC
- Christian Demyer Franken syndrome
- Christian Johnson Angenieta syndrome
- Christian syndrome
- Christianson syndrome
- Christmas disease
- Christ-Siemens-Touraine syndrome
- Chromaffin Paraganglioma of the Adrenal Gland
- Chromhidrosis
- Chromoblastomycosis
- Chromomycosis
- Chromophil RCC
- Chromophil renal cell carcinoma
- Chromophobe renal cell carcinoma
- Chromosomal triplication
- Chromosome Xq27.1 interchromosomal insertion syndrome
- Chromosome 1 ring
- Chromosome 1, uniparental disomy 1q12 q21
- Chromosome 10 ring
- Chromosome 10, uniparental disomy
- Chromosome 10p deletion
- Chromosome 10p duplication
- Chromosome 10q deletion
- Chromosome 10q duplication
- Chromosome 11 ring
- Chromosome 11p deletion
- Chromosome 11p deletion syndrome
- Chromosome 11p duplication
- Chromosome 11q deletion
- Chromosome 11q deletion syndrome
- Chromosome 11q duplication
- Chromosome 12 ring
- Chromosome 12, Isochromosome 12p syndrome
- Chromosome 12p deletion
- Chromosome 12p duplication
- Chromosome 12q deletion
- Chromosome 12q duplication
- Chromosome 13 ring
- Chromosome 13, trisomy 13 complete
- Chromosome 13q deletion
- Chromosome 13q duplication
- Chromosome 14 ring
- Chromosome 14q deletion
- Chromosome 14q duplication
- Chromosome 14q22 deletion syndrome
- Chromosome 15 ring
- Chromosome 15, trisomy mosaicism
- Chromosome 15q deletion
- Chromosome 15q duplication
- Chromosome 15q tetrasomy
- Chromosome 15q11.2 deletion
- Chromosome 15q11.2 microdeletion
- Chromosome 15q13.3 deletion syndrome
- Chromosome 15q13.3 duplication syndrome
- Chromosome 15q13.3 microdeletion syndrome
- Chromosome 15q13.3 microduplication syndrome
- Chromosome 15q25.2 microdeletion
- Chromosome 16 ring
- Chromosome 16 trisomy
- Chromosome 16, uniparental disomy
- Chromosome 16p deletion
- Chromosome 16p duplication
- Chromosome 16p11.2 deletion syndrome
- Chromosome 16p13.3 deletion syndrome
- Chromosome 16p13.3 duplication
- Chromosome 16q deletion
- Chromosome 16q duplication
- Chromosome 16q24.3 microdeletion syndrome
- Chromosome 17 duplication
- Chromosome 17 ring
- Chromosome 17 trisomy
- Chromosome 17, trisomy
- Chromosome 17, trisomy mosaicism
- Chromosome 17p deletion
- Chromosome 17p duplication
- Chromosome 17p11.2 deletion syndrome
- Chromosome 17p13.1 deletion syndrome
- Chromosome 17q deletion
- Chromosome 17q duplication
- Chromosome 17q11.2 deletion syndrome
- Chromosome 17q11.2 deletion syndrome, 1.4Mb
- Chromosome 17q12 deletion syndrome
- Chromosome 17q12 duplication syndrome
- Chromosome 17q21.31 microdeletion syndrome
- Chromosome 17q23.1-q23.2 deletion syndrome
- Chromosome 18 ring
- Chromosome 18 trisomy
- Chromosome 18p deletion
- Chromosome 18p duplication
- Chromosome 18p tetrasomy
- Chromosome 18q deletion
- Chromosome 18q duplication
- Chromosome 19 ring
- Chromosome 19p deletion
- Chromosome 19p duplication
- Chromosome 19q deletion
- Chromosome 19q duplication
- Chromosome 19q13.11 deletion syndrome
- Chromosome 1p deletion
- Chromosome 1p duplication
- Chromosome 1p36 deletion syndrome
- Chromosome 1q deletion
- Chromosome 1q21.1 duplication syndrome
- Chromosome 1q21.1 microdeletion syndrome
- Chromosome 1q41-q42 deletion syndrome
- Chromosome 1q44 microdeletion syndrome
- Chromosome 2 ring
- Chromosome 20 ring
- Chromosome 20 trisomy
- Chromosome 20p deletion
- Chromosome 20p duplication
- Chromosome 20q deletion
- Chromosome 20q duplication
- Chromosome 21 ring
- Chromosome 21, uniparental disomy
- Chromosome 21q deletion
- Chromosome 21q duplication
- Chromosome 22 partial tetrasomy
- Chromosome 22 ring
- Chromosome 22 trisomy
- Chromosome 22q deletion
- Chromosome 22q duplication
- Chromosome 22q11.2 deletion syndrome
- Chromosome 22q11.2 duplication syndrome
- Chromosome 22q13.3 deletion syndrome
- Chromosome 2p deletion
- Chromosome 2p duplication
- Chromosome 2q deletion
- Chromosome 2q duplication
- Chromosome 2q23.1 microdeletion syndrome
- Chromosome 2q24 microdeletion syndrome
- Chromosome 2q37 deletion syndrome
- Chromosome 3 ring
- Chromosome 3, monosomy 3p25
- Chromosome 3, trisomy 3q
- Chromosome 3p deletion
- Chromosome 3p duplication
- Chromosome 3p- syndrome
- Chromosome 3pter-p25 Deletion Syndrome
- Chromosome 3q deletion
- Chromosome 3q duplication
- Chromosome 3q29 microdeletion syndrome
- Chromosome 3q29 microduplication syndrome
- Chromosome 4 ring
- Chromosome 4p deletion
- Chromosome 4p duplication
- Chromosome 4p syndrome
- Chromosome 4q deletion
- Chromosome 4q duplication
- Chromosome 5 ring
- Chromosome 5, uniparental disomy
- Chromosome 5p deletion
- Chromosome 5p deletion syndrome
- Chromosome 5p duplication
- Chromosome 5p- syndrome
- Chromosome 5q deletion
- Chromosome 5q duplication
- Chromosome 5q14.3 deletion syndrome
- Chromosome 6 ring
- Chromosome 6-associated transient diabetes mellitus
- Chromosome 6p deletion
- Chromosome 6p duplication
- Chromosome 6q deletion
- Chromosome 6q duplication
- Chromosome 6q25 microdeletion syndrome
- Chromosome 7 ring
- Chromosome 7p deletion
- Chromosome 7p duplication
- Chromosome 7q deletion
- Chromosome 7q duplication
- Chromosome 7q11.23 duplication syndrome
- Chromosome 8 ring
- Chromosome 8p deletion
- Chromosome 8p duplication
- Chromosome 8p23.1 deletion
- Chromosome 8q deletion
- Chromosome 8q duplication
- Chromosome 8q12 microduplication syndrome
- Chromosome 8q24.3 deletion syndrome
- Chromosome 9 inversion- not a rare disease.
- Chromosome 9 ring
- Chromosome 9p deletion
- Chromosome 9p duplication
- Chromosome 9p tetrasomy
- Chromosome 9q deletion
- Chromosome 9q deletion syndrome
- Chromosome 9q duplication
- Chromosome 9q34.3 deletion syndrome
- Chromosome triploidy syndrome
- Chromosome X Monosomy X
- Chromosome X pentasomy
- Chromosome Xp deletion
- Chromosome Xp11.23-p11.22 duplication syndrome
- Chromosome Xq deletion
- Chromosome Xq duplication
- Chromosome Xq28 deletion syndrome
- Chromosome XXXXX syndrome
- Chromosome19p13.12 microdeletion
- Chronic active Epstein-Barr disease
- Chronic active Epstein-Barr virus infection
- Chronic Ataxic Neuropathy Ophthalmoplegia M-protein Agglutination Disialosyl antibodies syndrome
- Chronic atrial and intestinal dysrhythmia
- Chronic atrial intestinal dysrhythmia syndrome
- Chronic atrophic polychondritis
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
- Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
- Chronic B-cell leukemia
- Chronic dacryoadenitis and sialadenitis
- Chronic demyelinizing neuropathy with IgM monoclonal
- Chronic eosinophilic pneumonia
- Chronic erosive gastritis
- Chronic familial neutropenia
- Chronic fatigue immune dysfunction syndrome- not a rare disease.
- Chronic fatigue syndrome- not a rare disease.
- Chronic graft versus host disease
- Chronic granulocytic leukemia
- Chronic granulomatous disease
- Chronic GVHD
- Chronic heavy metal poisoning
- Chronic hiccups
- Chronic idiopathic eosinophilic pneumonia
- Chronic Idiopathic Jaundice
- Chronic Infantile Neurological Cutaneous Articular syndrome
- Chronic inflammatory demyelinating polyneuropathy
- Chronic Inflammatory Demyelinating Polyradiculoneuropathy
- Chronic intestinal pseudoobstruction
- Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
- Chronic lymphocytic leukemia
- Chronic lymphocytic thyroiditis- not a rare disease.
- Chronic Marchiafava-Bignami syndrome
- Chronic mucocutaneous candidiasis- not a rare disease.
- Chronic multifocal osteomyelitis
- Chronic myelogenous leukemia
- Chronic myeloid leukemia
- Chronic myelomonocytic leukemia
- Chronic myeloproliferative disorders
- Chronic neutrophilic leukemia
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- Chronic othostatic intolerance- not a rare disease.
- Chronic peptic ulcer and esophagitis syndrome- not a rare disease.
- Chronic polyradiculoneuritis
- Chronic progressive external ophthalmoplegia
- Chronic progressive external ophthalmoplegia with myopathy
- Chronic pulmonary Berylliosis
- Chronic recurrent multifocal osteomyelitis
- Chronic recurrent multifocal osteomyelitis, congenital
- Chronic sensory ataxic neuropathy with anti-disialosyl antibodies
- Chronic silicosis
- Chronic T-cell leukemia
- Chronic thromboembolic pulmonary hypertension
- Chronic urticaria with gammapathy
- Chronic urticaria with gammopathy
- Chronic urticaria with macroglobulinemia
- CHS
- Chudley Rozdilsky syndrome
- Chudley syndrome
- Chudley-Mccullough syndrome
- Churg-Strauss syndrome
- Churg-Strauss vasculitis
- Chylomicron retention disease
- Chylothorax, congenital
- Chylous ascites
- CIBD
- Cicatricial pemphigoid
- Cicatricial pemphigoid of the Brunsting-Perry type
- Cicatricial pemphigoid, ocular
- CID due to LRBA deficiency
- CID due to MAGT1 deficiency
- CID due to partial RAG1 deficiency
- CID due to PGM3 deficiency
- CID due to RAG 1/2 deficiency
- CID with expansion of gamma delta T cells
- CIDEC-related familial partial lipodystrophy
- CIDEC-related FPLD
- CIDP
- CIE
- Ciguatera fish poisoning
- Ciguatera poisoning
- CIID
- CIIP
- CIIP X-linked
- CIIPX
- Cilia with defective radial spokes
- Ciliary discoordination, due to random ciliary orientation
- Ciliary dyskinesia primary
- Ciliary dyskinesia with excessively long cilia
- Ciliary dyskinesia, due to transposition of ciliary microtubules
- Ciliary dyskinesia-bronchiectasis
- Cilliers-Beighton syndrome
- CINCA
- CINCA syndrome
- CIP with hyperhidrosis and gastrointestinal dysfunction
- CIPA
- CIPO
- Circadian rhythm sleep disorder, free-running type
- Circumferential skin creases Kunze type
- Circumscribed cutaneous aplasia of the vertex
- Circumscribed disseminated keratosis Jadassohn Lew type
- Circumscribed hairy dysembryoplasia of palms
- Cirrhosis, familial, with deposition of abnormal glycogen
- CISS
- Citrin deficiency
- Citrin deficiency
- Citrulline transport defect
- Citrullinemia 1
- Citrullinemia type 2
- Citrullinemia type I
- Citrullinemia type II
- Citrullinuria
- CJD
- CK
- Cl. septicum infection
- CLAH
- CLAM
- Clark-Baraitser syndrome
- Clarkson disease
- Clasped thumb and mental retardation
- Clasped thumbs, congenital
- Classic 21-OHD CAH
- Classic citrullinemia
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Classic distal renal tubular acidosis
- Classic Ehlers-Danlos syndrome
- Classic ependymoma
- Classic galactosemia
- Classic hemochromatosis- not a rare disease.
- Classic hemophilia
- Classic homocystinuria
- Classic lissencephaly
- Classic non-deforming OI with blue sclerae
- Classic type RTA
- Classical Ehlers-Danlos syndrome
- Classical hemophilia
- Classical-like EDS
- Classical-like EDS type 1
- Classical-like Ehlers-Danlos syndrome
- Classical-like Ehlers-Danlos syndrome type 1
- CLCD
- CLD
- CLE
- Clear cell adenoma
- Clear cell carcinoma
- Clear cell eccrine carcinoma
- Clear cell ependymoma (histologic variant)
- Clear cell RCC
- Clear cell renal cell carcinoma
- Clear-cell metastatic renal cell carcinoma (subtype)
- clEDS
- clEDS type 1
- Cleft hand absent tibia
- Cleft Limb Heart Malformation Syndrome
- Cleft lip and palate malrotation cardiopathy
- Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation
- Cleft lip and palate, lower lip pits, and limb deficiency defects
- Cleft lip and/or palate with mucous cysts of lower lip
- Cleft lip palate dysmorphism Kumar type
- Cleft lip palate lip pits limb deficiency
- Cleft lip palate oligodontia syndactyly pili torti
- Cleft lip palate pituitary deficiency
- Cleft lip palate-tetraphocomelia
- Cleft lip with progressive retinopathy
- Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease
- Cleft lip/palate oligodontia syndactyly hair alterations
- Cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies
- Cleft lip/palate with abnormal thumbs and microcephaly
- Cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly
- Cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cleft lip/palate-syndactyly-pili torti
- Cleft lip/palate-syndactyly-pili torti syndrome
- Cleft lower lip cleft lateral canthi chorioretinal
- Cleft nare, brachydactyly, short stature dwarfism
- Cleft palate colobomata radial synostosis deafness
- Cleft palate heart disease polydactyly absent tibia
- Cleft palate large ears small head
- Cleft palate lateral synechia syndrome
- Cleft palate short stature vertebral anomalies
- Cleft palate stapes fixation oligodontia
- Cleft palate X-linked
- Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects
- Cleft palate, Cardiac defect, Genital anomalies, and Ectrodactily
- Cleft palate, cardiac defects, and intellectual disability
- Cleft palate, microcephaly, large ears, and short stature
- Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet,
- Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
- Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
- Cleft palate-omphalocele syndrome, lethal
- Cleft spine
- Cleft tongue
- Clefting, ectropion, and conical teeth
- Cleido rhizomelic syndrome
- Cleidocranial dysostosis
- Cleidocranial dysplasia
- Cleidocranial dysplasia recessive form
- Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia
- Cleidorhizomelic syndrome
- Clericuzio type poikiloderma with neutropenia
- CLH Syndrome
- C-like syndrome
- Clinical anophthalmia
- Clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
- CLIPPERS
- CLL
- CLM
- CLN 9
- CLN1
- CLN1 variable age at onset
- CLN10
- CLN10 disease, adult (subtype)
- CLN10 disease, congenital (subtype)
- CLN10 disease, juvenile (subtype)
- CLN10 disease, late infantile (subtype)
- CLN2
- CLN2 disease, juvenile (subtype)
- CLN2 disease, late infantile (subtype)
- CLN3 disease, juvenile
- CLN4 disease, adult autosomal dominant
- CLN4B
- CLN4B disease
- CLN5
- CLN5 disease, adult
- CLN5 disease, juvenile
- CLN5 disease, late infantile (subtype)
- CLN6
- CLN6 disease, adult Kufs type A (subtype)
- CLN6 disease, late infantile (subtype)
- CLN7
- CLN7 disease
- CLN7 disease, late infantile
- CLN8
- CLN8 disease, EPMR (subtype)
- CLN8 disease, late infantile (subtype)
- CLN8 disease, Northern epilepsy variant
- Cloacal exstrophy
- Cloacal exstrophy sequence
- Closed spina bifida- not a rare disease.
- Clostridium perfringens infection
- Clostridium septicum infection
- Clostridium sordellii infection
- Clostridium sordellii toxic shock syndrome
- Clouston syndrome
- Clouston syndrome
- Clouston's hidrotic ectodermal dysplasia
- CLOVE syndrome
- Cloverleaf skull and asphyxiating thoracic dysplasia
- Cloverleaf skull generalised bone dysplasia
- Cloverleaf skull syndrome
- Cloverleaf skull with thanatophoric dwarfism
- Cloverleaf skull-micromelic bone dysplasia syndrome
- CLOVES syndrome
- CLPED1
- CLS
- Clubfoot- not a rare disease.
- Cluster headache- not a rare disease.
- Cluttering
- CLWM
- CMAMMA
- CMAVM
- CM-AVM syndrome
- CMC- not a rare disease.
- CMD
- CMD
- CMD due to dystroglycanopathy
- CMD with intellectual disability and severe epilepsy
- CMD1
- CMDD
- CMDJ
- CMDR
- CML
- CML-like syndrome, familial
- CMM
- CMO
- CMO 1 deficiency
- CMPD
- CMPD1
- CMPD1/SRA1
- CMP-sialic acid transporter deficiency
- CMRD
- CMS
- CMS IIa
- CMS w/episodic apnea
- CMS1A
- CMS2A
- CMS-EA
- CMT
- CMT 1A
- CMT 1B
- CMT 1C
- CMT 1D
- CMT 1E
- CMT 1F
- CMT 2A
- CMT 2B
- CMT 2B1
- CMT 2B2
- CMT 2C
- CMT 2D
- CMT 2E
- CMT 2F
- CMT 2G
- CMT 2H
- CMT 2I
- CMT 2J
- CMT 2K
- CMT 4B
- CMT 4B1
- CMT 4B2
- CMT 4C
- CMT 4E
- CMT with pyramidal features
- CMT1
- CMT2
- CMT2 with giant axons
- CMT2H
- CMT2L
- CMT2N
- CMT2O
- CMT2P
- CMT2Q
- CMT2R - Another name for Charcot-Marie-Tooth disease type 2R
- CMT3
- CMT4
- CMT4A
- CMT4D
- CMT4E
- CMT4G
- CMT4H
- CMT4J
- CMT6X
- CMTC
- CMTDI
- CMTDIA
- CMTDIB
- CMTDIC
- CMTDID
- CMTDIE
- CMTDIF
- CMTRIA
- CMTRIB
- CMTX
- CMTX
- CMTX 1
- CMTX 2
- CMTX 3
- CMTX 4
- CMTX5
- CMTX6
- CMV antenatal infection
- CNC1
- CND
- CNF
- CNL
- CNO/CRMO
- CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr
- CNS tumors with Familial polyposis of the colon
- CNTF receptor-related disorders
- COA Syndrome
- COACH syndrome
- Coagulation factor 12 deficiency
- Coal worker's pneumoconiosis
- Coarctation of the aorta
- Coarse face hypotonia constipation
- Coarse, dry, lusterless hair which breaks off easily
- COASY Protein-Associated Neurodegeneration
- Coats disease
- Cobalamin C disease
- Cobalamin D defect
- Cobalamin J defect
- Cobalamin pseudodeficiency due to transcobalamin deficiency
- Cobalamin r binder protein deficiency
- Cobb syndrome
- COCA1- not a rare disease.
- Cocaine antenatal exposure
- Cocaine fetopathy
- Coccidioides immitis infection
- Coccidioidomycosis
- Coccidiosis
- Coccydynia
- Coccygodynia
- Cochin Jewish disorder
- Cochleosaccular degeneration of the inner ear and progressive cataracts
- Cockayne syndrome
- Cockayne syndrome type 2
- Cockayne syndrome type I
- Cockayne syndrome classic form
- Cockayne syndrome classical
- Cockayne syndrome type 2
- Cockayne syndrome type 3
- Cockayne syndrome type A
- Cockayne syndrome type B
- Cockayne syndrome type C
- Cockayne syndrome type II
- Cockayne syndrome type III
- Cockayne's syndrome
- Cockett syndrome
- COD1
- COD2
- CODAS syndrome
- COD-MD syndrome
- Coeliac disease- not a rare disease.
- Coenzyme Q cytochrome c reductase deficiency of
- Coenzyme Q10 deficiency
- Coffin syndrome
- Coffin syndrome 1
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- COFS syndrome
- COG1-CDG
- COG1-CDG (CDG-IIg)
- COG4-CDG
- COG4-CDG (CDG-IIj)
- COG5-CDG
- COG5-CDG (CDG-IIi)
- COG5-CDG (CDG-Iii).
- COG6-CDG (CDG-IIL)
- COG7-CDG (CDG-IIe)
- COG8-CDG
- COG8-CDG (CDG-IIh)
- Cogan corneal dystrophy
- Cogan syndrome
- Cogan-Reese syndrome
- Cogan's syndrome
- Cogan's syndrome type 2
- COH1
- Cohen Lockood Wyborney syndrome
- Cohen syndrome
- Cohen-Hayden syndrome
- Cohesinopathy affecting heart and gut rhythm
- COL2A1
- Colavita Kozlowski syndrome
- Cold agglutinin disease
- Cold antibody disease
- Cold antibody hemolytic anemia
- Cold contact urticaria
- Cold urticaria
- Cold-induced painful or pruritic erythematous or violaceous acral papular or nodular lesions
- Cold-induced sweating syndrome
- Cole Carpenter syndrome
- Cole disease
- Cole-Hughes syndrome
- Collagen II
- Collagen VI related muscular dystrophy
- Collagenopathy type 2 alpha 1
- Collagenous colitis- not a rare disease.
- Collagenous gastritis
- Collagenous plaques of hand and feet
- Collecting duct carcinoma
- Collecting duct carcinoma of the kidney
- Collins Pope syndrome
- Collins Sakati syndrome
- Collodion fetus
- Colloid cysts of third ventricle
- Coloboma of alar-nasal cartilages with telecanthus
- Coloboma of choroid and retina
- Coloboma of eye lens
- Coloboma of iris
- Coloboma of macula
- Coloboma of macula with type B brachydactyly
- Coloboma of optic nerve
- Coloboma of optic nerve with renal disease
- Coloboma of optic papilla
- Coloboma porencephaly hydronephrosis
- Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
- COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES
- Coloboma-microphthalmos syndrome
- Coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
- Colobomata unilobar lung heart defect
- Colon cancer, familial nonpolyposis- not a rare disease.
- Colonic atresia
- Colonic malakoplakia
- Colonic type adenocarcinoma
- Color blindness blue mono cone monochromatic type
- Colorblindness, total
- Colorectal cancer, familial
- Colorectal cancer, hereditary nonpolyposis- not a rare disease.
- Colpocephaly
- Columnar-like esophagus- not a rare disease.
- Colver Steer Godman syndrome
- COMA
- Coma basedovicum
- Combarros Calleja Leno syndrome
- Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis
- Combined cellular and humoral immune defects with granulomas
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
- Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
- Combined granular-lattice corneal dystrophies
- Combined immunodeficiency due to LRBA deficiency
- Combined immunodeficiency due to MAGT1 deficiency
- Combined immunodeficiency due to partial RAG1 deficiency
- Combined immunodeficiency due to PGM3 deficiency
- Combined immunodeficiency due to RAG 1/2 deficiency
- Combined immunodeficiency with expansion of gamma delta T cells
- Combined immunodeficiency with granulomatosis
- Combined immunodeficiency with skin granulomas
- Combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections
- Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency - Another name for Lipodystrophy due to peptidic growth factors deficiency
- Combined malonic and methylmalonic aciduria
- Combined oxidative phosphorylation defect type 12
- Combined oxidative phosphorylation defect type 16
- Combined oxidative phosphorylation deficiency
- Combined oxidative phosphorylation deficiency 12
- Combined oxidative phosphorylation deficiency 16
- Combined pituitary hormone deficiencies, genetic forms
- Combined prosaposin deficiency
- Combined SAP deficiency
- COMBINED SAPOSIN DEFICIENCY
- Comedo naevus
- Comedone naevus
- Common atrioventricular canal
- Common ichthyosis
- COMMON syndrome
- Common variable hypogamma-globulinemia
- Common variable immune deficiency
- Common variable immunodeficiency
- Common variable immunodeficiency-8 (CVID8) with autoimmunity
- Common variable OI with normal sclerae
- Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts
- Compartment syndrome
- Complement component 2 deficiency
- Complement component 5 deficiency
- Complement component 8 deficiency type 1
- Complement component 8 deficiency type 2
- Complement component 8 deficiency type I
- Complement component 8 deficiency type II
- Complement component deficiency
- Complement component receptor 1
- Complement receptor deficiency
- Complete absence of breasts
- Complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet
- Complete agenesis of the dorsal pancreas
- Complete androgen insensitivity syndrome
- Complete atrioventricular canal
- Complete atrioventricular septal defect
- Complete HPRT deficiency complete
- Complete LCAT deficiency
- Complete mevalonate kinase deficiency
- Complete trisomy 13 syndrome
- Complex 1 mitochondrial respiratory chain deficiency
- Complex 2 mitochondrial respiratory chain deficiency
- Complex 3 mitochondrial respiratory chain deficiency
- Complex 4 mitochondrial respiratory chain deficiency
- Complex 5 mitochondrial respiratory chain deficiency
- Complex carbohydrate intolerance
- Complex congenital heart defect, renal agenesis and cleft lip and palate
- Complex familial seizure disorder
- Complex IV deficiency
- Complex malformation syndrome with brachymesomelia
- Complex of anomalies involving the cranium and brain
- Complex regional pain syndrome
- Concentric demyelination
- COND
- CONDBA
- Condensing osteitis of the clavicle
- Condensing osteitis of the medial clavicle
- Condrodisplasia punctata rizomélica
- Conductive deafness - malformed external ear
- Conductive deafness with malformed external ear
- Conductive hearing loss and malformed low-set ears
- Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia
- Cone dystrophy
- Cone dystrophy autosomal dominant
- Cone dystrophy progressive
- Cone dystrophy with night blindness and supernormal rod responses KCNV2 related
- Cone dystrophy with night blindness and supernormal rod responses PDE6H-related
- Cone dystrophy X-linked 1
- Cone dystrophy X-linked 2
- Cone dystrophy X-linked with tapetal-like sheen
- Cone-rod degeneration X-linked
- Cone-rod dystrophy
- Cone-rod dystrophy 1
- Cone-rod dystrophy 2
- Cone-rod dystrophy 3
- Cone-rod dystrophy 5
- Cone-rod dystrophy 6
- Cone-rod dystrophy amelogenesis imperfecta
- Cone-rod dystrophy with amelogenesis imperfecta
- Cone-rod dystrophy X-linked 1
- Cone-rod dystrophy X-linked 2
- Cone-rod dystrophy X-linked 3
- Cone-rod retinal dystrophy 2
- Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies
- Congenital absence of fingerprints
- Congenital absence of gluteal muscles
- Congenital absence of nose and anterior nasopharynx
- Congenital absence of skin on the upper or lower limbs
- Congenital absence of testes
- Congenital absence of the heart
- Congenital absence of the nose
- Congenital absence of the pulmonary artery
- Congenital absence of the rods and cones
- Congenital absence of the sternocleidomastoid muscle
- Congenital absence of the uterus and vagina (CAUV)
- Congenital absence of uterus and vagina
- Congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital adrenal hyperplasia due to cytochrome POR deficiency
- Congenital adrenal hyperplasia lipoid
- Congenital adrenal hyperplasia type 5
- Congenital adrenal hypoplasia
- Congenital afibrinogenemia
- Congenital agenesis of the tricuspid valve
- Congenital aleukia
- Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency
- Congenital alveolar capillary dysplasia
- Congenital amegakaryocytic thrombocytopenia
- Congenital amputation
- Congenital analbuminemia
- Congenital aneurysms of the great vessels
- Congenital anomalies, involving mainly the face, thorax, and genitalia
- Congenital anonychia
- Congenital anosmia
- Congenital anterior megalophthalmia
- Congenital Antithrombin III Deficiency
- Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
- Congenital aplastic anemia
- Congenital arteriovenous shunt
- Congenital arthromyodysplasia
- Congenital articular rigidity
- Congenital AT-III deficiency
- Congenital atresia of the small intestine
- Congenital atrophoderma of Pasini and Pierini
- Congenital benign spinal muscular atrophy dominant
- Congenital betalipoprotein deficiency syndrome
- Congenital bilateral absence of the vas deferens
- Congenital bilateral aplasia of vas deferens
- Congenital bilateral metadiaphyseal acrodysplasia of the little finger
- Congenital bilateral perisylvian syndrome
- Congenital bilateral recurrent nerve paralysis and ptosis
- Congenital bile acid synthesis defect type 1
- Congenital bile acid synthesis defect, type 1
- Congenital bile acid synthesis defect, type 2
- Congenital bowing with short bones
- Congenital bronchobiliary fistula
- Congenital bullous ichthyosiform erythroderma
- Congenital bullous poikiloderma
- Congenital cardiovascular shunt
- Congenital cataract with microphthalmia
- Congenital cataract with multiple congenital anomalies in a sibship
- Congenital cataracts, renal tubular necrosis and encephalopathy in two sisters
- Congenital central hypoventilation syndrome
- Congenital cerebral granulomas
- Congenital chloride diarrhea
- Congenital chloridorrhea
- Congenital choledochal cyst
- Congenital cholesteatoma (type)
- Congenital chylous ascites
- Congenital coloboma of the optic nerve
- Congenital constricting bands
- Congenital contractural arachnodactyly
- Congenital contractures
- Congenital contractures of the digits
- Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment
- Congenital convex pes valgus
- Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation
- Congenital corneal dystrophy, progressive sensorineural deafness
- Congenital coxa vara, patella aplasia and tarsal synostosis
- Congenital craniosynostosis maternal hyperthyroiditis
- Congenital cutaneous multifocal kaposiform hemangioendothelioma
- Congenital cutaneous neurilemmomatosis
- Congenital cystic adenomatoid malformation
- Congenital cystic eye
- Congenital cystic eye multiple ocular and intracranial anomalies
- Congenital cytomegalovirus
- Congenital deafness with inner ear agenesis microtia and microdontia
- Congenital deafness with vitiligo and achalasia
- Congenital defect of folate absorption
- Congenital defect of skull and scalp
- Congenital deformity of the thumb and congenital alopecia
- Congenital diaphragmatic defect
- Congenital diaphragmatic hernia
- Congenital dislocation of the patella
- Congenital disorder of deglycosylation;CDDG
- Congenital disorder of glycosylation
- Congenital disorder of glycosylation due to PIGM deficiency
- Congenital disorder of glycosylation due to PIGN deficiency - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
- Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency
- Congenital disorder of glycosylation type 1a
- Congenital disorder of glycosylation type 1c
- Congenital disorder of glycosylation type 1d
- Congenital disorder of glycosylation type 1e
- Congenital disorder of glycosylation type 1f
- Congenital disorder of glycosylation type 1g
- Congenital disorder of glycosylation type 1h
- Congenital disorder of glycosylation type 1i
- Congenital disorder of glycosylation type 1j
- Congenital disorder of glycosylation type 1k
- Congenital disorder of glycosylation type 1L
- Congenital disorder of glycosylation type 1m
- Congenital disorder of glycosylation type 1n
- Congenital disorder of glycosylation type 1o
- Congenital disorder of glycosylation type 1p
- Congenital disorder of glycosylation type 1q
- Congenital disorder of glycosylation type 1r
- Congenital disorder of glycosylation type 1s
- Congenital disorder of glycosylation type 1t
- Congenital disorder of glycosylation type 1u
- Congenital disorder of glycosylation type 1y
- Congenital disorder of glycosylation type 1z
- Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
- Congenital disorder of glycosylation type 2a
- Congenital disorder of glycosylation type 2b
- Congenital disorder of glycosylation type 2d
- Congenital disorder of glycosylation type 2e
- Congenital disorder of glycosylation type 2f
- Congenital disorder of glycosylation type 2G
- Congenital disorder of glycosylation type 2h
- Congenital disorder of glycosylation type 2i
- Congenital disorder of glycosylation type 2j
- Congenital disorder of glycosylation type 2k
- Congenital disorder of glycosylation type 2m
- Congenital disorder of glycosylation type I/IIX
- Congenital disorder of glycosylation type Ia
- Congenital disorder of glycosylation type Ic
- Congenital disorder of glycosylation type Id
- Congenital disorder of glycosylation type Ie
- Congenital disorder of glycosylation type If
- Congenital disorder of glycosylation type Ig
- Congenital disorder of glycosylation type Ih
- Congenital disorder of glycosylation type Ii
- Congenital disorder of glycosylation type II due to MAN1B1 deficiency
- Congenital disorder of glycosylation type IIA
- Congenital disorder of glycosylation type IIB
- Congenital disorder of glycosylation type IIC
- Congenital disorder of glycosylation type IID
- Congenital disorder of glycosylation type IIe
- Congenital disorder of glycosylation type IIf
- Congenital disorder of glycosylation type IIg
- Congenital disorder of glycosylation type IIh
- Congenital disorder of glycosylation type IIi
- Congenital disorder of glycosylation type IIj
- Congenital disorder of glycosylation type IIk
- Congenital disorder of glycosylation type IIm
- Congenital disorder of glycosylation type Ij
- Congenital disorder of glycosylation type Ik
- Congenital disorder of glycosylation type IL
- Congenital disorder of glycosylation type Im
- Congenital disorder of glycosylation type In
- Congenital disorder of glycosylation type Io
- Congenital disorder of glycosylation type Ip
- Congenital disorder of glycosylation type Iq
- Congenital disorder of glycosylation type Ir
- Congenital disorder of glycosylation type Is
- Congenital disorder of glycosylation type It
- Congenital disorder of glycosylation type Iu
- Congenital disorder of glycosylation type IV; CDG1V
- Congenital disorder of glycosylation type Iy
- Congenital disorder of glycosylation type Iz
- Congenital disorder of glycosylation with developmental anomaly
- Congenital disorder of glycosylation, type Ia
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
- Congenital disorder of glycosylation, type If
- Congenital disorder of glycosylation, type Ig
- Congenital disorder of glycosylation, type Ih
- Congenital disorder of glycosylation, type Ii
- Congenital disorder of glycosylation, type IIa
- Congenital disorder of glycosylation, type IIb
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
- Congenital disorder of glycosylation, type IId
- Congenital disorder of glycosylation, type IIe
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
- Congenital disorder of glycosylation, type IIg
- Congenital disorder of glycosylation, type IIh
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk
- Congenital disorder of glycosylation, type IIl
- Congenital disorder of glycosylation, type IIm
- Congenital disorder of glycosylation, type Ij
- Congenital disorder of glycosylation, type Ik
- Congenital disorder of glycosylation, type Il
- Congenital disorder of glycosylation, type Im
- Congenital disorder of glycosylation, type In
- Congenital disorder of glycosylation, type Io
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
- Congenital disorder of glycosylation, type Ir
- Congenital disorder of glycosylation, type Is
- Congenital disorder of glycosylation, type It
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy
- Congenital disorders of glycosylation
- Congenital dyserythropoietic anemia
- Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis
- Congenital dyserythropoietic anemia type 1
- Congenital dyserythropoietic anemia type 2
- Congenital dyserythropoietic anemia type 3
- Congenital dyserythropoietic anemia type II
- Congenital dysfibrinogenemia
- Congenital dysplasia of hip- not a rare disease.
- Congenital ectodermal dysplasia with hearing loss
- Congenital elevation of the scapula
- Congenital enteropathy
- Congenital erythrocytosis due to erythropoietin receptor mutation
- Congenital erythropoietic porphyria
- Congenital estrogen deficiency
- Congenital extrahepatic portosystemic shunt
- Congenital extraocular muscle fibrosis with ulnar hand anomalies
- Congenital eye malformation in which the pupils are displaced from their normal central position
- Congenital facial diplegia
- Congenital facial diplegia syndrome
- Congenital facial linear porokeratosis (type)
- Congenital factor II deficiency
- Congenital factor XI deficiency
- Congenital Factor XIII deficiency
- Congenital failure of autonomic control
- Congenital familial hypertrophic synovitis
- Congenital familial intractable diarrhea with enterocytes assembly abnormalities
- Congenital familial protracted diarrhea
- Congenital familial protracted diarrhea with enterocyte brush-border abnormalities
- Congenital femoral deficiency
- Congenital fiber type disproportion
- Congenital fiber-type disproportion myopathy
- Congenital fibrinogen deficiency
- Congenital fibrosis of extraocular muscles
- Congenital filiform fusion of the eyelids with cleft palate and/or cleft lip
- Congenital fissure of the abdominal cavity
- Congenital Foix-Chavany-Marie syndrome (subtype)
- Congenital folate malabsorption
- Congenital generalized fibromatosis
- Congenital generalized hypertrichosis, Macias-Flores type
- Congenital generalized lipodystrophy
- Congenital generalized lipodystrophy type 1
- Congenital generalized lipodystrophy type 2
- Congenital generalized lipodystrophy type 3
- Congenital generalized lipodystrophy type 4
- Congenital giant megaureter
- Congenital giant pigmented nevus
- Congenital glutamine deficiency
- Congenital hairy nevus
- Congenital heart block
- Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
- Congenital heart defects, hamartomas of tongue, and polysyndactyly
- Congenital heart disease ptosis hypodontia craniostosis
- Congenital heart disease radio ulnar synostosis mental retardation
- Congenital heart disease, deafness, and skeletal malformations
- Congenital heart disease, ptosis, hypodontia, and craniosynostosis
- Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects
- Congenital hemolytic anemia
- Congenital hepatic fibrosis
- Congenital hereditary endothelial dystrophy of the cornea
- Congenital hereditary hematuria
- Congenital hereditary lymphedema
- Congenital hereditary vertical nystagmus
- Congenital herpes simplex
- Congenital HIV
- congenital HSV infection
- Congenital human immunodeficiency virus
- Congenital hydrocephalus
- Congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism
- Congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation
- Congenital hyperinsulinism
- Congenital hypertrichosis lanuginosa
- Congenital hypomelanotic and hypermelanotic macules
- Congenital hypomyelinating neuropathy (CHN)
- Congenital hypomyelination neuropathy
- Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita
- Congenital hypoplastic anemia
- Congenital hypoplastic anemia, Blackfan-Diamond type
- Congenital hypothyroidism
- Congenital hypotrichosis milia
- Congenital ichthyosiform erythroderma
- Congenital ichthyosis with biliary atresia
- Congenital idiopathic intestinal pseudoobstruction
- Congenital IGHD
- Congenital IGHD
- Congenital IGHD type IA
- Congenital infiltrating lipomatosis of the face
- Congenital insensitivity to pain
- Congenital insensitivity to pain and thermal analgesia
- Congenital insensitivity to pain with anhidrosis
- Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
- Congenital intrauterine infection-like syndrome
- Congenital intrinsic factor deficiency
- Congenital isolated ACTH deficiency
- Congenital isolated GH deficiency
- Congenital isolated GH deficiency
- Congenital isolated GH deficiency type IA
- Congenital isolated growth hormone deficiency
- Congenital isolated growth hormone deficiency
- Congenital isolated growth hormone deficiency type IA
- Congenital isolated hyperinsulinism
- Congenital Isolated nail dysplasia
- Congenital koilonychia
- Congenital lactase deficiency
- Congenital lamellar ichthyosis
- Congenital Langerhans cell histiocytosis
- Congenital laryngeal palsy
- Congenital laryngeal stridor
- Congenital laryngomalacia
- Congenital lipoid adrenal hyperplasia
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Congenital lipomatosis of pancreas
- Congenital lipomatous overgrowth - vascular malformation - epidermal nevi
- Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities
- Congenital lobar emphysema
- Congenital longitudinal deficiency of the fibula
- Congenital lung agenesis
- Congenital lupus
- Congenital lupus erythematosus
- Congenital lymphedema
- Congenital macroglossia
- Congenital major airway collapse
- Congenital MD
- Congenital megaconial myopathy
- Congenital megalo-ureter
- Congenital melanocytosis with myelomeningocele and hydrocephalus
- Congenital mesoblastic nephroma
- Congenital methemoglobinemia
- Congenital MG
- Congenital microcoria
- Congenital microgastria and limb reduction defects
- Congenital microvillous atrophy
- Congenital miosis
- Congenital mirror movement disorder
- Congenital mirror movements
- Congenital mitral malformation
- Congenital mitral stenosis
- Congenital multiple arthrogryposis
- Congenital mumps
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- Congenital muscular dystrophy
- Congenital muscular dystrophy due to dystroglycanopathy
- Congenital muscular dystrophy due to LMNA mutation
- Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
- Congenital muscular dystrophy type 1A
- Congenital muscular dystrophy with integrin alpha-7 deficiency
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Congenital muscular dystrophy with ITGA7 deficiency
- Congenital muscular dystrophy with mitochondrial structural abnormalities
- Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
- Congenital muscular torticollis
- Congenital Myasthenia
- Congenital myasthenic syndrome
- Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
- Congenital myasthenic syndrome type 1a
- Congenital myasthenic syndrome with episodic apnea
- Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy
- Congenital myopathy
- Congenital myopathy - cleft palate - malignant hyperthermia
- Congenital myopathy cleft palate and malignant hyperthermia
- Congenital myopathy with caps
- Congenital myopathy-cleft palate-malignant hyperthermia syndrome
- Congenital myotonic dystrophy
- Congenital myxovirus
- Congenital nephrotic syndrome 1
- Congenital nephrotic syndrome Finnish type
- Congenital non-bullous ichthyosiform erythroderma
- Congenital nonhemolytic jaundice
- Congenital nonprogressive myopathy with Moebius and Robin sequences
- Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex
- Congenital nonprogressive spinocerebellar ataxia
- Congenital nuclear cataract, autosomal recessive
- Congenital oculofacial paralysis
- Congenital oculomotor apraxia
- Congenital Ondine curse
- Congenital optic atrophy and brachytelephalangy
- Congenital pachyonychia
- Congenital pancreatic agenesis
- Congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease
- Congenital PAP
- Congenital partial atresia of the larynx
- Congenital patellar dislocation
- Congenital pernicious anemia due to defect of intrinsic factor
- Congenital polycystic dilatation of intrahepatic bile ducts
- Congenital polycythemia due to erythropoietin receptor mutation
- Congenital porphyria
- Congenital PRCA
- Congenital primary aphakia
- Congenital primary lymphedema
- Congenital proconvertin deficiency
- Congenital profound sensorineural deafness and oligodontia
- Congenital prosopagnosia
- Congenital pseudoarthrosis
- Congenital pulmonary airway malformation
- Congenital pulmonary alveolar proteinosis
- Congenital pulmonary artery branch stenosis
- Congenital pulmonary lymphangiectasia
- Congenital pure red cell aplasia
- Congenital radioulnar synostosis
- Congenital retinal blindness
- Congenital rod disease
- Congenital rubella
- Congenital rubella syndrome
- Congenital scalp defects associated with postaxial polydactyly
- Congenital scalp defects with distal limb anomalies
- Congenital scalp defects with distal limb reduction anomalies
- Congenital short femur (subtype)
- Congenital short pancreas
- Congenital shortness of the costocoracoid ligament
- Congenital sideroblastic anemia
- Congenital spherocytic hemolytic anemia
- Congenital spherocytosis
- Congenital stationary night blindness with myopia
- Congenital stenosis of cervical medullary canal
- Congenital sternal cleft
- Congenital sucrase-isomaltase deficiency
- Congenital sucrose isomaltose malabsorption
- Congenital sucrose-isomaltase malabsorption
- Congenital suprabulbar paresis
- Congenital Talipes Equinovarus- not a rare disease.
- Congenital Telangiectatic Erythema
- Congenital testicular deficiency
- Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay
- Congenital thrombotic thrombocytopenic purpura
- Congenital torticollis
- Congenital toxoplasmosis- not a rare disease.
- Congenital tracheal agenesis
- Congenital tracheal stenosis
- Congenital tracheobronchomegaly
- Congenital tracheomalacia
- Congenital transposition of the penis
- Congenital trigger thumb (type)
- Congenital ulnar drift
- Congenital unilateral pulmonary hypoplasia
- Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea
- Congenital upward displacement of the scapula
- Congenital vagal hyperreflexivity
- Congenital varicella syndrome
- Congenital velopharyngeal incompetence
- Congenital vertical talus
- Congenital vocal cord paralysis
- Congenital warfarin syndrome
- Congenital Zika syndrome
- Congenitally corrected transposition of the great arteries
- Congenitally corrected transposition of the great vessels
- Congenitally uncorrected transposition of the great vessels
- Congo red-negative amyloidosis-like glomerulopathy
- Conical teeth
- Conjugate gaze palsy
- Conjugated Hyperbilirubinemia
- Conjunctival melanoma
- Conjunctivitis lignosa
- Conjunctivitis with Pseudomembrane
- Conn syndrome- not a rare disease.
- Connective tissue disorder Marden Walker type
- Connective Tissue Sarcoma
- Connexin 26 deafness
- Conorenal syndrome
- Conotruncal anomaly face syndrome
- Conotruncal cardiac defects
- Conotruncal heart malformations
- Conrad Hunermann Happle syndrome
- Conradi Hunermann syndrome
- Constitutional megaloblastic anemia with severe neurologic disease
- Constrictive bronchiolitis
- Contiguous ABCD1 DXS1357E deletion syndrome
- CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME
- Continuous muscle fiber activity hereditary
- Continuous muscle fiber activity syndrome
- Continuous spikes and waves during sleep
- Continuous spikes and waves during slow-wave sleep
- Continuous spike-wave during slow sleep syndrome
- Contractural arachnodactyly
- Contractures ectodermal dysplasia cleft lip palate
- Contractures of feet, muscle atrophy, and oculomotor apraxia
- Contractures, multiple with arachnodactyly
- Conversion disorder
- Convulsions benign familial neonatal
- Convulsions benign familial neonatal dominant form
- Convulsions, benign familial infantile, 1
- Convulsions, benign familial neonatal with Myokymia
- Convulsions, infantile, with paroxysmal choreoathetosis, familial
- Cooks syndrome
- Cooley's anemia
- COP
- CoPAN
- Copper deficiency, familial benign
- Copper transport disease
- Coproporphyria
- Coproporphyria hereditary
- Coproporphyrinogen oxidase deficiency
- CoQ10 deficiency
- CoQ10 deficiency, primary
- CoQ-responsive OXPHOS deficiency
- Cor biloculare
- Cor triatriatum
- Cor triatriatum dexter
- Cor triatriatum dextrum
- Cor triatriatum sinister
- Cor triatriatum sinistrum
- CORD1
- CORD2
- CORD3
- CORD5
- CORDX1
- CORDX2
- CORDX3
- Cori disease
- Cormier Rustin Munnich syndrome
- Cornea guttata with anterior polar cataract
- Corneal amyloidosis
- Corneal anesthesia-deafness-intellectual disability syndrome
- Corneal cerebellar syndrome
- Corneal clouding, cutis laxa and mental retardation
- Corneal crystals myopathy and neuropathy
- Corneal crystals myopathy neuropathy
- Corneal dystrophy and perceptive deafness
- Corneal dystrophy and sensorineural deafness
- Corneal dystrophy Avellino type
- Corneal dystrophy crystalline of Schnyder
- Corneal dystrophy epithelial and short stature
- Corneal dystrophy geographic
- Corneal dystrophy granular type
- Corneal dystrophy honeycomb shaped
- Corneal dystrophy ichthyosis microcephaly mental retardation
- Corneal dystrophy of Bowman layer type 1
- Corneal dystrophy of the Bowman layer type 2
- Corneal dystrophy pigmentary anomaly malabsorption
- Corneal dystrophy punctate or nodular
- Corneal dystrophy Reis Bucklers type
- Corneal dystrophy Thiel Behnke type
- Corneal dystrophy with gum hypertrophy
- Corneal dystrophy, anterior basement membrane
- Corneal dystrophy, congenital hereditary endothelial
- Corneal dystrophy, epithelial, with skin and skeletal changes
- Corneal dystrophy, gelatinous drop-like
- Corneal dystrophy, juvenile epithelial of Meesmann
- Corneal dystrophy, lattice type 1
- Corneal dystrophy, Lattice type 3
- Corneal dystrophy, macular type
- Corneal endothelial dystrophy type 2
- Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
- Corneal hypesthesia, familial
- Corneal neuralgia
- Corneal neuropathic disease
- Corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation
- Cornelia de Lange syndrome
- Corneodermatoosseous syndrome
- Coronal dentin dysplasia
- Coronal synostosis, syndactyly and jejunal atresia
- Coronaro-cardiac fistula
- Coronary arteries congenital malformation
- Coronary artery aneurysm
- Coronary artery vasospasm
- Coronary sinus atrial septal defects
- Corpus callosum agenesis
- Corpus callosum agenesis - double urinary collecting system
- Corpus callosum agenesis double urinary collecting
- Corpus callosum agenesis facial anomalies Robin sequence
- Corpus callosum agenesis neuronopathy
- Corpus callosum agenesis of blepharophimosis Robin type
- Corpus callosum agenesis polysyndactyly
- Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
- Corpus callosum agenesis-double urinary collecting system syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Corpus callosum dysgenesis cleft spasm
- Corpus callosum dysgenesis hypopituitarism
- Corpus callosum dysgenesis X-linked recessive
- Corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation
- Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
- Corpus callosum, agenesis of, with abnormal genitalia
- Corpus callosum, agenesis of, with chorioretinal abnormality
- Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
- Corrected transposition
- CORS
- CORS1
- CORS2
- Cortada Koussef Matsumoto syndrome
- Cortes Lacassie syndrome
- Cortical blindness-intellectual disability-polydactyly syndrome
- Cortical defects wormian bones and dentinogenesis imperfecta
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Cortical dysplasia of Taylor
- Cortical dysplasia, complex, with other brain malformations 1
- Cortical hyperostosis with hyperphosphatemia
- Cortical hyperostosis with syndactyly
- Cortical-Basal Ganglionic degeneration
- Corticobasal degeneration
- Cortico-Basal Ganglionic Degeneration (CBGD)
- Corticobasal syndrome
- Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin
- Corticosteroid-binding globulin deficiency
- Corticosteroid-sensitive aseptic abscesses
- Corticosterone methyloxidase type 1 deficiency
- Corticotroph pituitary adenoma
- Corticotropin-independent macronodular adrenal hyperplasia
- Cortisol 11-beta-ketoreductase deficiency
- CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT
- Cortisone reductase deficiency
- Costeff optic atrophy syndrome
- Costeff syndrome
- Costello syndrome
- Costochondral junction syndrome
- Costocoracoid ligament congenitally short
- Costovertebral dysplasia
- Costovertebral segmentation anomalies
- Costovertebral segmentation defect with mesomelia (formerly)
- Cote Katsantoni syndrome
- Cough headache
- Coumadin sensitivity
- Coumarin embryopathy
- Coumarin syndrome
- Cousin syndrome
- Covesdem syndrome (formerly)
- Cowchock syndrome
- Cowden disease
- Cowden syndrome
- Cowden's disease
- COX deficiency
- Cox deficiency, French Canadian type
- Cox deficiency, Saguenay Lac saint Jean type
- COX1 DEFICIENCY
- Coxa plana
- Coxa vara, congenital
- Coxiella Burnetii fever
- Coxoauricular syndrome
- Coxo-podo-patellar syndrome
- COXPD12
- COXPD16
- CPA
- CPD3
- CPD4
- CPDIII
- CPEO
- CPEO with myopathy
- CPEO with ragged red fibers
- CPHD1
- CPHD3
- CPHD4
- CPL
- CPM- not a rare disease.
- CPO deficiency
- CPP4
- CPPDD
- CPRO deficiency
- CPS 1 deficiency
- CPSQ4 (formerly)
- CPT1A deficiency
- CPT2
- CPVT
- CPX
- CPX deficiency
- CPXD
- CPXR
- Cramer Niederdellmann syndrome
- Cramp-fasciculation syndrome
- Crandall syndrome
- Crane-Heise syndrome
- Cranial arteritis
- Cranial mononeuropathy VI
- Cranial nerve VI palsy
- Cranial variant of GBS
- Cranial variant of Guillain-Barré syndrome
- Cranio osteoarthropathy
- Craniocarpotarsal dysplasia
- Craniocarpotarsal dystrophy
- Craniocele
- Craniocerebellocardiac dysplasia
- Cranio-cerebello-cardiac dysplasia
- Craniodiaphyseal dysplasia
- Craniodiaphyseal dysplasia, dominant
- Craniodigital syndrome with mental retardation
- Craniodigital syndrome-intellectual disability syndrome
- Craniodigital syndrome-mental retardation, Scott type
- Craniodigital-intellectual disability syndrome
- Cranioectodermal dysplasia
- Craniofacial and osseous defects mental retardation
- Craniofacial and skeletal defects
- Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage
- Craniofacial deafness hand syndrome
- Craniofacial digital genital anomalies
- Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
- Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature
- Craniofacial dysostosis arthrogryposis progeroid appearence
- Craniofacial dysostosis type 1
- Craniofacial dysostosis with diaphyseal hyperplasia
- Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies
- Craniofacial dyssynostosis
- Craniofacial dyssynostosis and short stature
- Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development
- Craniofacial microsomia
- Craniofacial-skeletal-dermatologic dysplasia
- Craniofacial-skeletal-dermatologic syndrome
- Craniofacial-ulnar-renal syndrome
- Craniofaciocardioskeletal syndrome
- Craniofrontonasal dysostosis
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia with alopecia and hypogonadism
- Craniofrontonasal dysplasia, Teebi type
- Craniofrontonasal syndrome
- Craniofrontonasal syndrome Teebi type
- Craniometaphyseal dysplasia Jackson type
- Craniometaphyseal dysplasia, autosomal dominant
- Craniometaphyseal dysplasia, autosomal recessive type
- Craniomicromelic syndrome
- Cranio-oro-digital syndrome
- Craniopharyngeal duct tumor
- Craniopharyngioma
- Craniorachischisis
- Craniostenosis
- Craniostenosis cataract
- Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
- Craniosynostosis
- Craniosynostosis alopecia brain defect
- Craniosynostosis and clavicular hypoplasia, Delayed closure of the fontanel, Anal anomalies and Genitourinary malformations
- Craniosynostosis arthrogryposis cleft palate
- Craniosynostosis autosomal dominant
- Craniosynostosis Boston type
- Craniosynostosis cleft lip palate arthrogryposis
- Craniosynostosis contractures cleft
- Craniosynostosis exostoses nevus epibulbar dermoid
- Craniosynostosis Fontaine type
- Craniosynostosis Maroteaux Fonfria type
- Craniosynostosis mental retardation clefting syndrome
- Craniosynostosis Philadelphia type
- Craniosynostosis synostoses hypertensive nephropathy
- Craniosynostosis Warman type
- Craniosynostosis with arachnodactyly and abdominal hernias
- Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features
- Craniosynostosis with radial defects
- Craniosynostosis, anal anomalies, and porokeratosis
- Craniosynostosis, lambdoidal
- Craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects
- Craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature
- Craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose
- Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia
- Craniosynostosis, midfacial hypoplasia, and foot abnormalities
- Craniosynostosis-alopecia-brain defect syndrome
- Craniosynostosis-congenital heart disease-intellectual disability syndrome
- Craniosynostosis-craniofacial dysostosis syndrome
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- Craniosynostosis-intellectual disability syndrome of Lin and Gettig
- Craniosynostosis-radial aplasia syndrome
- Craniotelencephalic dysplasia
- Cranium bifidum
- CRAPB
- Crash syndrome
- CRASH syndrome
- Crawfurd syndrome
- CRB
- CRBM
- CRCC
- CRD2
- Creatine deficiency syndrome due to AGAT deficiency
- Creatine deficiency, X-linked
- CREE ENCEPHALITIS
- Cree leukoencehalopathy
- Creeping eruption
- Creeping myiasis
- CREST syndrome
- Cretinism athyreotic
- Creutzfeldt Jacob disease
- Creutzfeldt Jakob disease
- Creutzfeldt-Jacob disease
- Creutzfeldt-Jakob disease
- Cri du chat syndrome
- Cribriform carcinoma
- Crigler Najjar syndrome type 2
- Crigler Najjar syndrome, type 1
- Crigler-Najjar syndrome type 2
- Crigler-Najjar syndrome, type I
- Crigler-Najjar syndrome, type II
- Crisponi syndrome
- Criswick-Schepens syndrome
- CRMO
- Crohn's disease- not a rare disease.
- Crohn's disease of the esophagus
- Crohn's disease, pediatric
- Crome syndrome
- Cronkhite-Canada disease
- Crooked little finger, familial
- Cross syndrome
- Crossed polydactyly type 1
- Crossed polysyndactyly
- Cross-McKusick syndrome
- Crosti-gianotti syndrome
- Crosti's Disease
- Crouzon craniofacial dysostosis
- Crouzon disease
- Crouzon syndrome
- Crow-Fukase syndrome
- CRPS
- CRPT1
- CRS
- Crumpled helices and small mouth
- Crusted scabies
- CRV
- Cryofibrinogenemia
- Cryoglobulinemia
- Cryohydrocytosis
- Cryopyrin-associated periodic syndrome
- Cryopyrinopathy
- Cryptococcosis
- Cryptogenic organizing pneumonia
- Cryptomicrotia brachydactyly syndrome
- Cryptomicrotia brachydactyly syndrome excess fingertip arch
- Cryptophthalmos
- Cryptophthalmos syndrome
- Cryptophthalmos with other malformations
- Cryptophthalmos-syndactyly syndrome
- Cryptorchidism arachnodactyly intellectual deficit
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Cryptosporidiosis
- Crystal arthropathies- not a rare disease.
- CS
- CSF leak
- CSF otorrhea
- CSF rhinorrhea
- CSID
- CSNU
- CSO
- CSS
- CSWS
- CSWSS syndrome
- CTCL
- CTEPH
- CTEV- not a rare disease.
- CTHM
- CTLA4 Haploinsufficiency with autoimmune infiltration
- CTLA-4 haploinsufficiency with autoimmune infiltration disease
- CTLN2
- CTNL1
- CTNNB1-related intellectual disability
- CTNS
- CTPA
- CTPP
- CTPP1
- CTPP3
- CTPP4
- CTPP5
- CTX
- CUL4B-related X-linked intellectual disability
- Culler-Jones syndrome
- Cumming syndrome
- Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly
- Cupped metaphyses and cone-shaped epiphyses with alopecia
- Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly
- Curatolo Cilio Pessagno syndrome
- Curatolo-Cilio-Pessagno syndrome
- Curly hair-acral keratoderma-caries syndrome
- Curran syndrome
- Currarino syndrome
- Currarino triad
- Curry Hall syndrome
- Curry Jones syndrome
- Curth-Macklin type ichthyosis hystrix
- Cushing disease
- Cushing syndrome
- Cushing's Disease
- Cushing's symphalangism
- Cushing's syndrome
- Cutaneomeningospinal angiomatosis
- Cutaneous anthrax
- Cutaneous collagenous vasculopathy
- cutaneous fibrous histiocytoma- not a rare disease.
- Cutaneous follicle center lymphoma
- Cutaneous follicle centre lymphoma
- Cutaneous larva migrans
- Cutaneous leishmaniasis (subtype)
- Cutaneous leukocytoclastic angiitis
- Cutaneous leukocytoclastic vasculitis
- Cutaneous local mastocytoma
- Cutaneous lupus erythematosus
- Cutaneous lymphangioma circumscriptum
- Cutaneous mastocytoma
- Cutaneous mastocytosis
- Cutaneous neuroendocrine carcinoma
- Cutaneous photosensitivity and colitis, lethal
- Cutaneous polyarteritis nodosa
- Cutaneous sclerosis
- Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
- Cutaneous small vessel vasculitis
- Cutaneous T-cell lymphoma
- Cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms
- Cutaneous-skeletal hypophosphatemia syndrome
- cutaneovisceral angiomatosis with thrombocytopenia
- Cutaneovisceral angiomatosis-thrombocytopenia syndrome
- Cutis gyrata - acanthosis nigricans - craniosynostosis
- Cutis Gyrata syndrome of Beare and Stevenson
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Cutis gyratum acanthosis nigricans craniosynostosis
- Cutis hyperelastica
- Cutis laxa
- Cutis laxa growth deficiency syndrome
- Cutis laxa osteoporosis
- Cutis laxa with bone dystrophy
- Cutis laxa with growth and developmental delay
- Cutis laxa with joint laxity and retarded development
- Cutis laxa with progeroid features
- Cutis laxa X-linked
- Cutis laxa, autosomal dominant
- Cutis laxa, autosomal recessive
- Cutis laxa, autosomal recessive type 1
- Cutis laxa, autosomal recessive type 2A
- Cutis laxa, autosomal recessive type 2B
- Cutis laxa, Debre type
- Cutis laxa, type 1
- Cutis marmorata telangiectatica congenita
- Cutis verticis gyrata
- Cutis verticis gyrata mental deficiency
- Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome
- Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome
- Cutler Bass Romshe syndrome
- CVD1
- cvEDS
- CVID
- CVS- not a rare disease.
- CVT
- CX
- Cyclic hematopoiesis
- Cyclic neutropenia
- Cyclic thrombocytopenia
- Cyclic vomiting syndrome- not a rare disease.
- Cyclical edema- not a rare disease.
- CYCLOOXYGENASE 1 DEFICIENCY
- Cyclopism
- Cyclospora infection
- Cyclosporiasis
- Cyclosporosis
- CYLD
- Cylindrical spirals myopathy
- Cylindroma
- Cylindroma
- Cylindromatosis, familial
- Cyllosomas
- CYP11B1 deficiency
- CYP21 deficiency
- CYP2C19-related poor drug metabolism- not a rare disease.
- CYP2D6- not a rare disease.
- Cyprus facial neuromusculoskeletal syndrome
- Cyprus fever
- Cystadenocarcinoma
- Cystathionine beta-synthase deficiency
- Cystathioninuria
- Cystic adenomatoid malformation of lung
- Cystic adventitial disease
- Cystic angiomatosis
- Cystic angiomatosis of bone diffuse
- Cystic dilatation of renal collecting tubes
- Cystic dilatation of the intrahepatic biliary tree
- Cystic endosalpingiosis of the uterus
- Cystic fibrosis
- Cystic fibrosis gastritis megaloblastic anemia
- Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies
- Cystic hamartoma of lung and kidney
- Cystic hygroma
- Cystic hygroma fetal
- Cystic hygroma of the neck (posterior)
- Cystic leukoencephalopathy without megalencephaly
- Cystic lymphangioma
- Cystic medial necrosis of aorta
- Cysticercosis
- Cystic-multilocular variant
- Cystine diathesis
- Cystine disease
- Cystine storage disease
- Cystinoses
- Cystinosin, defect of
- Cystinosis
- Cystinosis, adult, nonnephropathic
- Cystinosis, benign, nonnephropathic
- Cystinosis, ocular nonnephropathic
- Cystinuria
- Cystinuria-lysinuria
- Cystoisosporiasis
- Cystosarcoma phyllodes
- Cystosarcoma phyllodes of the breast
- Cytochrome c oxidase deficiency
- Cytochrome c oxidase deficiency, French Canadian type
- Cytochrome p450 (2D6)- not a rare disease.
- Cytochrome p450 2D6 variant- not a rare disease.
- Cytokine deficiency
- Cytokine receptor deficiency
- Cytomegalic inclusion body disease
- Cytomegalic inclusion disease
- Cytomegalovirus retinitis
- Cytoplasmic body myopathy
- Czech dysplasia metatarsal type
- Czeizel Brooser syndrome
- Czeizel syndrome
- Czeizel-Losonci syndrome
NIH genetic and rare disease info[edit source]
List of rare diseases-C is a rare disease.
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD