List of rare diseases-C

NIH genetic and rare disease info

• NIH info on List of rare diseases-C

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

• NIH info on List of rare diseases-C

List of rare diseases-C is a rare disease.