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2591 Result(s)
- C syndrome
- C-beta-thalassemia
- C-like syndrome
- C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
- C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy
- C12ORF65-related combined oxidative phosphorylation defect
- C12ORF65-related COXPD
- C3 deficiency
- C3 glomerulonephritis
- C3 glomerulopathy
- C9ORF72-related Huntington disease phenocopy
- C9ORF72-related Huntington disease-like syndrome
- CA-VA deficiency
- Cabezas syndrome
- CABV syndrome
- Cacchi-Ricci disease
- CACD
- CACH syndrome
- CACP syndrome
- CACT deficiency
- CAD
- CAD-CDG
- CADASIL
- CADDS
- CADINS disease
- CADP
- CAEBV syndrome
- Caffey disease
- CAGSSS
- CAH
- CAH due to 11-beta-hydroxylase deficiency
- CAH due to 17-alpha-hydroxylase deficiency
- CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
- cAHA
- CAHMR syndrome
- CAID syndrome
- cAIHA
- CAIN
- CAIS
- CAKUT
- Calcification of joints and arteries
- Calcified epithelial carcinoma of Malherbe
- Calcifying aponeurotic fibroma
- Calcifying epitheliocarcinoma
- Calciphylaxis
- Calciphylaxis cutis
- Calcium pyrophosphate dihydrate crystal deposition disease
- California disease
- Californian encephalitis
- CALJA
- Calpain-3-related LGMD R1
- Calpain-3-related limb-girdle muscular dystrophy D4
- Calpain-3-related limb-girdle muscular dystrophy R1
- CALs syndrome isolated
- Calvarial doughnut lesions-bone fragility syndrome
- Camera syndrome
- Camero-Lituania-Cohen syndrome
- Camisa disease
- CAMOS syndrome
- Campomelia, Cumming type
- Campomelic dwarfism
- Campomelic dysplasia
- Campomelic dysplasia and related disorders
- Camptobrachydactyly
- Camptodactyly of fingers
- Camptodactyly syndrome, Guadalajara type 1
- Camptodactyly syndrome, Guadalajara type 2
- Camptodactyly syndrome, Guadalajara type 3
- Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
- Camptodactyly-cleft palate-clubfoot syndrome
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
- Camptodactyly-joint contractures-facial skeletal defects syndrome
- Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome
- Camptodactyly-tall stature-scoliosis-deafness syndrome
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- Camptodactyly-taurinuria syndrome
- CAMRQ syndrome
- CAMS
- CAMS1
- CAMS2
- CAMS3
- CAMT
- Camurati-Engelmann disease
- Canale-Smith syndrome
- Canavan disease
- Cancer diagnosed during pregnancy
- Cancer of fallopian tubes
- Cancer of penis
- Cancer of unknown primary site
- Cancer-associated retinopathy
- Cancrum oris
- CANDA syndrome
- CANOMAD syndrome
- CANT1-related multiple epiphyseal dysplasia
- Cantalamessa-Baldini-Ambrosi syndrome
- Cantrell deformity
- Cantrell syndrome
- Cantu craniofaciofrontodigital syndrome
- Cantú syndrome
- CANVAS
- Cap disease
- Cap inflammatory polyposis
- Cap myopathy
- Cap polyposis
- CAP syndrome
- Capdepont teeth
- CAPE dystrophy
- CAPED
- Capillary hyperpermeability syndrome
- Capillary leak syndrome
- Capillary lymphangioma
- Capillary lymphatic malformation
- Capillary malformation-arteriovenous malformation
- CAPOS syndrome
- Capra-DeMarco syndrome
- CAPS
- CAPS
- CAR syndrome
- CAR T cell therapy-associated CRS
- CAR T cell therapy-associated cytokine release syndrome
- CARASAL
- CARASIL
- Carbamoyl-phosphate synthetase 1 deficiency
- Carbamoyl-phosphate synthetase deficiency
- Carbamoyl-phosphate synthetase I deficiency
- Carbohydrate deficient glycoprotein syndrome
- Carbohydrate deficient glycoprotein syndrome type Ia
- Carbohydrate deficient glycoprotein syndrome type Ib
- 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 IIn
- Carbohydrate deficient glycoprotein syndrome type IIo
- Carbohydrate deficient glycoprotein syndrome type IIp
- 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 Ix
- Carbohydrate deficient glycoprotein syndrome type Iy
- Carbohydrate deficient glycoprotein syndrome type Iz
- Carbonic anhydrase 2 deficiency
- Carbonic anhydrase XII deficiency
- Carcinofibroma of the corpus uteri
- Carcinoid syndrome
- Carcinoma associated with MITF/TFE translocation
- Carcinoma of esophagus
- Carcinoma of esophagus, salivary gland type
- Carcinoma of gallbladder and EBT
- Carcinoma of gallbladder and extrahepatic biliary tract
- Carcinoma of liver and IBT
- Carcinoma of liver and intrahepatic biliary tract
- Carcinoma of the ampulla of Vater
- Carcinoma of the anal canal
- Carcinoma of unknown primary
- Carcinoma of unknown primary origin
- Carcinoma of vulva
- Carcinosarcoma of the cervix uteri
- Carcinosarcoma of the corpus uteri
- CARD11-associated atopy with dominant interference of NF-kB signaling syndrome
- Cardiac anomalies-heterotaxy syndrome
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
- Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
- Cardiac diverticulum
- Cardiac tumor of child
- Cardiac-urogenital syndrome
- Cardiac-valvular EDS
- Cardiac-valvular Ehlers-Danlos syndrome
- Cardiocranial syndrome, Pfeiffer type
- Cardiofaciocutaneous syndrome
- Cardiogenic shock
- Cardiogenital syndrome
- Cardiomelic syndrome type 3
- Cardiomyopathic lentiginosis
- Cardiomyopathy-cataract-hip spine disease syndrome
- Cardiomyopathy-hypotonia-lactic acidosis syndrome
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardioskeletal myopathy-neutropenia syndrome
- Cardiospondylocarpofacial syndrome
- Cardiovascular Gaucher disease
- Carey-Fineman-Ziter syndrome
- Caribbean parkinsonism
- CARKD deficiency
- Carmi syndrome
- Carnevale-Hernández-del Castillo-Torres syndrome
- Carney complex
- Carney complex variant
- Carney complex-trismus-pseudocamptodactyly syndrome
- Carney dyad
- Carney syndrome
- Carney triad
- Carney-Stratakis dyad
- Carney-Stratakis syndrome
- Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine palmitoyl transferase deficiency type 2, adult-onset form
- Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
- Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
- Carnitine palmitoyl transferase deficiency type 2, myopathic form
- Carnitine palmitoyl transferase deficiency type 2, neonatal form
- Carnitine palmitoyl transferase deficiency type 2, severe infantile form
- Carnitine palmitoyl transferase IA deficiency
- Carnitine palmitoyl transferase II deficiency, adult-onset form
- Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
- Carnitine palmitoyl transferase II deficiency, lethal systemic form
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Carnitine palmitoyltransferase deficiency type 2
- Carnitine palmitoyltransferase II deficiency
- Carnitine transporter defect
- Carnitine uptake deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinase deficiency
- Caroli disease
- Caroli syndrome
- Carpenter syndrome
- Carpotarsal osteochondromatosis
- Carrion disease
- CARST
- Cartilage-hair hypoplasia
- Carvajal syndrome
- CAS
- Caspase 8 deficiency syndrome
- Cassia Stocco dos Santos syndrome
- Castleman disease
- Castro Gago-Pombo-Novo syndrome
- CAT
- Cat-eye syndrome
- Cat-scratch disease
- Catalase deficiency
- Cataract-aberrant oral frenula-growth delay syndrome
- Cataract-alopecia-sclerodactyly syndrome
- Cataract-ataxia-deafness syndrome
- Cataract-ataxia-hearing loss syndrome
- Cataract-congenital heart disease-neural tube defect syndrome
- Cataract-deafness-hypogonadism syndrome
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cataract-hearing loss-hypogonadism syndrome
- Cataract-hypertrichosis-intellectual disability syndrome
- Cataract-intellectual disability-anal atresia-urinary defects syndrome
- Cataract-intellectual disability-hypogonadism syndrome
- Cataract-microcornea syndrome
- Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
- Cataract-nephropathy-encephalopathy syndrome
- Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
- Catastrophic antiphospholipid syndrome
- Catastrophic APS
- CATCH 22
- Catecholaminergic polymorphic ventricular tachycardia
- Catel-Hempel syndrome
- Catel-Manzke syndrome
- Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
- Catlin marks
- CATSHL syndrome
- Caudal appendage-deafness syndrome
- Caudal appendage-hearing loss syndrome
- Caudal duplication
- Caudal dysgenesis syndrome
- Caudal dysplasia
- Caudal regression sequence
- Caudal regression syndrome
- Caudal regression-sirenomelia spectrum
- Causalgia
- CAVC
- CAVC with ventricular hypoplasia
- CAVC without ventricular hypoplasia
- CAVC-tetralogy of Fallot
- Caveolinopathy
- Cavernous lymphangioma
- Cavernous lymphatic malformation
- Cavitary myiasis
- Cayler cardiofacial syndrome
- Cayman ataxia
- CBE
- CBL syndrome
- CblC defect
- CblD defect
- CblF defect
- CblJ defects
- CBS-deficient HCU
- CCA
- CCA syndrome
- CCAM
- CCAM type 1
- CCAM type 2
- CCAM type 3
- CCDC115-CDG
- CCDF
- CCDS
- CCFDN
- CCGE syndrome
- CCHF
- CCHS
- CCMCO
- CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
- CCRCC
- CCSF
- CCSK
- CCV
- CD16 deficiency
- CD27 deficiency
- CD30 positive anaplastic large cell lymphoma
- CD55 deficiency
- CDA
- CDA due to KLF1 mutation
- CDA I
- CDA II
- CDA III
- CDA IV
- CDA type 1
- CDA type 2
- CDA type 3
- CDA type 4
- CDA type I
- CDA type II
- CDA type III
- CDA type IV
- CDAGS syndrome
- CDAN4
- CDC
- CDD
- CDFE syndrome
- CDFES
- CDG
- CDG syndrome type Ia
- CDG syndrome type Ib
- 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 IIc
- 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 IIL
- CDG syndrome type IIm
- CDG syndrome type IIn
- CDG syndrome type IIo
- CDG syndrome type IIp
- 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 Iw
- CDG syndrome type Ix
- CDG syndrome type Iy
- CDG syndrome type Iz
- CDG with cardiac malformation as a major feature
- CDG with deafness as a major feature
- CDG with developmental anomaly
- CDG with dilated cardiomyopathy
- CDG with epilepsy as a major feature
- CDG with hearing loss as a major feature
- CDG with hepatic involvement
- CDG with intestinal involvement
- CDG with nephropathy as a major feature
- CDG with neurological involvement
- CDG with skin involvement
- CDG-Ia
- CDG-Ib
- CDG-Ic
- CDG-Id
- CDG-Ie
- CDG-If
- CDG-Ig
- CDG-Ih
- CDG-Ii
- CDG-IIa
- CDG-IIb
- CDG-IIc
- CDG-IId
- CDG-IIe
- CDG-IIf
- CDG-IIg
- CDG-IIh
- CDG-IIi
- CDG-IIj
- CDG-IIk
- CDG-IIL
- CDG-IIm
- CDG-IIn
- CDG-IIo
- CDG-IIp
- CDG-Ij
- CDG-Ik
- CDG-IL
- CDG-Im
- CDG-In
- CDG-Io
- CDG-Ip
- CDG-Iq
- CDG-Ir
- CDG-Is
- CDG-It
- CDG-Iu
- CDG-Iw
- CDG-Ix
- CDG-Iy
- CDG-Iz
- CDG-related bone disorder
- CDG1A
- CDG1B
- CDG1C
- CDG1D
- CDG1E
- CDG1F
- CDG1G
- CDG1H
- CDG1I
- CDG1J
- CDG1K
- CDG1L
- CDG1M
- CDG1N
- CDG1O
- CDG1P
- CDG1Q
- CDG1R
- CDG1S
- CDG1T
- CDG1U
- CDG1W
- CDG1X
- CDG1Y
- CDG1Z
- CDG2A
- CDG2B
- CDG2C
- CDG2D
- CDG2E
- CDG2F
- CDG2G
- CDG2H
- CDG2I
- CDG2J
- CDG2K
- CDG2L
- CDG2M
- CDG2N
- CDG2O
- CDG2P
- CDH
- CDHS
- CDI
- CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
- CDK13-related disorder
- CDKL5-deficiency disorder
- CDO syndrome
- CDP
- CDPD
- CDPX2
- CDPXD
- CDS
- CDS
- CDSP
- CEA
- CEAS
- CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
- CEC
- Cecato de Lima-Pinheiro syndrome
- CED
- CEDNIK syndrome
- CEDS
- cEDS
- Celiac artery compression syndrome
- Celiac disease-epilepsy-cerebral calcification syndrome
- CELSR1-related late-onset primary lymphedema
- Cenani syndactyly
- Cenani-Lenz syndactyly
- Cenani-Lenz syndrome
- Central areolar choroidal dystrophy
- Central areolar choroidal sclerosis
- Central areolar pigment epithelial dystrophy
- Central cloudy corneal dystrophy of François
- Central cloudy dystrophy of François
- Central congenital hypothyroidism
- Central core disease
- Central hypothyroidism due to TRH receptor deficiency
- Central nervous system cystic malformation
- Central nervous system embryonal tumor
- Central nervous system malformation
- Central nervous system primitive neuroectodermal tumor
- Central nervous system tuberculosis
- Central neurocytoma
- Central polydactyly
- Central precocious puberty in boy
- Central precocious puberty in male
- Central retinal artery occlusion
- Central retinal pigment epithelial dystrophy
- Central retinal vein occlusion
- Central serous chorioretinopathy
- Centrifugal lipodystrophy
- Centronuclear myopathy
- Centronuclear myopathy type 4
- Centrotemporal epilepsy
- CEP
- Cephalocele
- Cephalothoracic lipodystrophy
- CEPT deficiency
- Cerebellar ataxia with azoospermia and intellectual disability
- Cerebellar ataxia with bilateral vestibulopathy syndrome
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- Cerebellar ataxia with peripheral neuropathy
- Cerebellar ataxia, Cayman type
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome
- Cerebellar ataxia-ectodermal dysplasia syndrome
- Cerebellar ataxia-hypogonadism syndrome
- Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
- Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
- Cerebellar atrophy with progressive microcephaly
- Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Cerebellar liponeurocytoma
- Cerebellar malformation
- Cerebellar plus syndrome
- Cerebellar syndrome-pigmentary maculopathy syndrome
- Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
- Cerebellar-facial-dental syndrome
- Cerebellofaciodental syndrome
- Cerebellooculorenal syndrome
- Cerebelloparenchymal disorder IV
- Cerebellotrigeminal-dermal dysplasia syndrome
- Cerebral Amyloid Angiopathy
- Cerebral arteriovenous malformation
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- Cerebral cortical dysplasia
- Cerebral creatine deficiency syndrome
- Cerebral diseases of vascular origin with epilepsy
- Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
- Cerebral folate deficiency
- Cerebral folate transport deficiency
- Cerebral gigantism
- Cerebral juvenile and adult form of Gaucher disease
- Cerebral lipidosis with dementia
- Cerebral malformation with epilepsy
- Cerebral organic aciduria
- Cerebral proliferative glomeruloid vasculopathy
- Cerebral sinovenous thrombosis
- Cerebral visual impairment
- Cerebro-cutaneous syndrome with iron overload
- Cerebrocostomandibular syndrome
- Cerebrofacial arteriovenous metameric syndrome
- Cerebrofacial arteriovenous metameric syndrome type 1
- Cerebrofacial arteriovenous metameric syndrome type 2
- Cerebrofacial arteriovenous metameric syndrome type 3
- Cerebrofacioarticular syndrome
- Cerebrofaciothoracic dysplasia
- Cerebrohepatorenal syndrome
- Cerebrooculodentoauriculoskeletal syndrome
- Cerebrooculofacioskeletal syndrome
- Cerebrooculonasal syndrome
- Cerebrorenal syndrome, Perez type
- Cerebroretinal microangiopathy with calcifications and cysts
- Cerebrotendinous xanthomatosis
- Cerebrovascular ferrocalcinosis
- Cernunnos deficiency
- Cernunnos XLFD
- Cernunnos-XLF deficiency
- Cerulean cataract
- Cervical adenocarcinoma
- Cervical adenoid basal carcinoma
- Cervical adenoid cystic carcinoma
- Cervical adenosarcoma
- Cervical aortic arch
- Cervical carcinosarcoma
- Cervical dermoid cyst
- Cervical germ cell cancer
- Cervical hypertrichosis-peripheral neuropathy syndrome
- Cervical leiomyosarcoma
- Cervical malignant germ cell tumor
- Cervical malignant mesenchymal tumor
- Cervical malignant mixed epithelial and mesenchymal tumor
- Cervical malignant Müllerian mixed tumor
- Cervical malignant peripheral neuroectodermal tumor
- Cervical peripheral neuroectodermal cancer
- Cervical rhabdomyosarcoma
- Cervical sarcoma
- Cervical squamous cell carcinoma
- Cervicofacial fibrochondroma
- Cervicooculoacoustic syndrome
- CES
- CES
- CEVD
- CF
- CFC syndrome
- CFD
- CFND
- CFNS
- CFTDM
- CGD
- CGHT
- CGL
- ChAc
- CHAC syndrome
- CHACS
- Chagas disease
- CHAI
- Chanarin-Dorfman syndrome
- CHAND syndrome
- Chandler syndrome
- CHANDS
- Chang-Davidson-Carlson syndrome
- Channelopathy with epilepsy
- Chaotic atrial tachycardia
- Chaotic conus spinal cord lipoma
- Chapare hemorrhagic fever
- CHAPLE syndrome
- Char syndrome
- Char-Douglas-Dungan syndrome
- Charcot disease
- 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 2B1
- Charcot-Marie-Tooth disease type 2B2
- Charcot-Marie-Tooth disease type 2B5
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 2P
- Charcot-Marie-Tooth disease type 2R
- Charcot-Marie-Tooth disease type 2S
- Charcot-Marie-Tooth disease type 2T
- 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 4B3
- 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 4G
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Charcot-Marie-Tooth disease type 4K
- Charcot-Marie-Tooth disease type 6
- Charcot-Marie-Tooth disease with focally folded myelin
- Charcot-Marie-Tooth disease-deafness syndrome
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Charcot-Marie-Tooth disease-hearing loss syndrome
- Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
- Charcot-Marie-Tooth disease-nephropathy syndrome
- Charcot-Marie-Tooth disease-pyramidal features syndrome
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
- Charcot-Marie-Tooth hereditary neuropathy
- Charcot-Marie-Tooth neuropathy type 1
- CHARGE association
- CHARGE syndrome
- CHARGE-like syndrome
- Charlevoix disease
- Charlie M syndrome
- CHC type 2
- cHCC-CC
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
- CHD4-related neurodevelopmental disorder
- CHD4-related neurodevelopmental syndrome
- CHD8 overgrowth syndrome
- CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome
- CHED2
- CHEDII
- Cheilitis glandularis
- Cheney syndrome
- Cherry-red spot-myoclonus syndrome
- Cherubism
- Cherubism-gingival fibromatosis-intellectual disability syndrome
- Chiari malformation type 1
- Chiari malformation type I
- Chikungunya
- Chilblain lupus
- CHILD nevus
- CHILD syndrome
- Childhood absence epilepsy
- Childhood AIS
- Childhood arterial ischemic stroke
- Childhood ataxia with diffuse central nervous system hypomyelination
- Childhood disintegrative disorder
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Childhood myasthenia gravis
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
- Childhood-onset basal ganglia degeneration syndrome
- Childhood-onset benign chorea with striatal involvement
- Childhood-onset collagenous gastritis
- Childhood-onset epilepsy syndrome
- Childhood-onset generalized dystonia-optic atrophy syndrome
- Childhood-onset HCC
- Childhood-onset hepatocellular carcinoma
- Childhood-onset hypophosphatasia
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Childhood-onset myotonic dystrophy type 1
- Childhood-onset nemaline myopathy
- Childhood-onset phosphoethanolaminuria
- Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
- Childhood-onset Rathbun disease
- Childhood-onset schizophrenia
- Childhood-onset spastic paraparesis-distal muscle wasting syndrome
- Childhood-onset spasticity with hyperglycinemia
- Childhood-onset spasticity with variant non-ketotic hyperglycinemia
- Childhood-onset Steinert disease
- Childhood-onset Steinert myotonic dystrophy
- CHIME syndrome
- Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome
- Chitayat-Meunier-Hodgkinson syndrome
- Chitty-Hall-Baraitser syndrome
- Chloride shunt syndrome
- Chloroma
- CHM
- Choanal atresia
- Choanal atresia, bilateral
- Choanal atresia, unilateral
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- Cholangiocarcinoma
- Choledochal cyst
- Cholera
- Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
- Cholestasis-lymphedema syndrome
- Cholestasis-pigmentary retinopathy-cleft palate syndrome
- Cholesterol ester storage disease
- Cholesterol-ester transfer protein deficiency
- Cholesteryl ester storage disease
- Chondrodysplasia punctata
- Chondrodysplasia punctata, tibial-metacarpal type
- Chondrodysplasia punctata, Toriello type
- Chondrodysplasia with congenital joint dislocations, CHST3 type
- Chondrodysplasia with joint dislocations, gPAPP type
- Chondrodysplasia with snail-like pelvis
- Chondrodysplasia, Blomstrand type
- Chondrodysplasia, Grebe type
- Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
- Chondrodysplasia-difference of sex development syndrome
- Chondrodysplasia-disorder of sex development syndrome
- Chondrodysplasia-pseudohermaphroditism syndrome
- Chondrodystrophia calcificans congenita
- Chondroectodermal dysplasia
- Chondroectodermal dysplasia with night blindness
- Chondromyxoid fibroma
- Chondrosarcoma
- CHOPS syndrome
- Chordoid glioma
- Chordoma
- Chorea-acanthocytosis
- Choreoacanthocytosis
- Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
- Choriocarcinoma of the central nervous system
- Choroid melanoma
- Choroid plexus carcinoma
- Choroid plexus papilloma
- Choroid plexus tumor
- Choroidal and ciliary body melanomas
- Choroidal atrophy-alopecia syndrome
- Choroidal osteoma
- Choroideremia
- Choroiditis
- CHP
- CHR-RPE
- Christ-Siemens-Touraine syndrome
- Christian syndrome
- Christianson syndrome
- Christianson-Fourie syndrome
- Christmas disease
- Chromoblastomycosis
- Chromodomain helicase DNA binding protein 8 overgrowth syndrome
- Chromomycosis
- Chromophobe renal cell adenocarcinoma
- Chromophobe renal cell carcinoma
- Chromosomal anomaly with cataract
- Chromosomal anomaly with epilepsy as a major feature
- Chromosomal disease with overgrowth
- Chromosome 11q deletion syndrome
- Chromosome 16p13.2 deletion syndrome
- Chromosome 18 duplication
- Chromosome 22q13.3 deletion syndrome
- Chromosome X structural anomaly
- Chromosome Y microdeletion
- Chromosome Y structural anomaly
- Chronic acquired demyelinating polyneuropathy
- Chronic actinic dermatitis
- Chronic adrenocorticoid insufficiency
- Chronic arachnoiditis
- Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome
- Chronic atrial and intestinal dysrhythmia syndrome
- Chronic atrial dysrhythmia-intestinal motility disorder
- Chronic berylliosis
- Chronic beryllium disease
- Chronic beryllium lung disease
- Chronic bilirubin encephalopathy
- Chronic cold agglutinin disease
- Chronic cutaneous lupus erythematosus
- Chronic dacryoadenitis and sialadenitis
- Chronic diarrhea due to glucoamylase deficiency
- Chronic diarrhea with hereditary sensory and autonomic neuropathy
- Chronic diarrhea with HSAN
- Chronic diarrhea with villous atrophy
- Chronic EBV infection syndrome
- Chronic encephalitis
- Chronic endophthalmitis
- Chronic enteropathy associated with SLCO2A1 gene
- Chronic eosinophilic leukemia
- Chronic eosinophilic pneumonia
- Chronic Epstein-Barr virus infection syndrome
- Chronic graft versus host disease
- Chronic granulocytic leukemia
- Chronic granulomatous disease
- Chronic hiccup
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
- Chronic infantile neurological cutaneous and articular syndrome
- Chronic inflammatory demyelinating polyneuropathy
- Chronic inflammatory demyelinating polyradiculoneuropathy
- Chronic intervillositis of unknown etiology
- Chronic intestinal failure
- Chronic intestinal pseudoobstruction
- Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
- Chronic lymphocytic leukemia
- Chronic lymphoproliferative disorder of natural killer cells
- Chronic lymphoproliferative disorder of NK-cells
- Chronic mast cell leukemia
- Chronic MCL
- Chronic mucocutaneous candidiasis
- Chronic myelogenous leukemia
- Chronic myeloid leukemia
- Chronic myelomonocytic leukemia
- Chronic myeloproliferative disease, unclassifiable
- Chronic neuronopathic Gaucher disease
- Chronic neurovisceral acid sphingomyelinase deficiency
- Chronic neurovisceral ASMD
- Chronic neutrophilic leukemia
- Chronic NK lymphocytosis
- Chronic NK-cell lymphocytosis
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- Chronic obstetric brachial plexus injury
- Chronic obstetric brachial plexus palsy
- Chronic photosensitivity dermatitis
- Chronic pneumonitis of infancy
- Chronic polyradiculoneuropathy
- Chronic primary adrenal insufficiency
- Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
- Chronic relapsing inflammatory optic neuritis
- Chronic respiratory distress with surfactant metabolism deficiency
- Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies
- Chronic septic granulomatosis
- Chronic thromboembolic pulmonary hypertension
- Chronic traumatic encephalopathy
- Chronic urticaria with gammopathy
- Chronic urticaria with macroglobulinemia
- Chronic visceral acid sphingomyelinase deficiency
- Chronic visceral ASMD
- CHST3-related skeletal dysplasia
- Chudley-McCullough syndrome
- Chudley-Rozdilsky syndrome
- Chung-Jansen syndrome
- Churg-Strauss syndrome
- Chuvash erythrocytosis
- Chuvash polycythemia
- Chylomicron retention disease
- Chylous ascites
- Chédiak-Higashi disease
- Chédiak-Higashi syndrome
- Chédiak-Higashi-like syndrome
- Chédiak-Higashi-Steinbrink syndrome
- Cicatricial pemphigoid
- CID due to CARD11 deficiency
- CID due to CD70 deficiency
- CID due to DOCK2 deficiency
- CID due to DOCK8 deficiency
- CID due to GINS1 deficiency
- CID due to IKAROS deficiency
- CID due to LRBA deficiency
- CID due to MAGT1 deficiency
- CID due to Moesin deficiency
- CID due to ORAI1 deficiency
- CID due to partial RAG1 deficiency
- CID due to PGM3 deficiency
- CID due to RAG 1/2 deficiency
- CID due to RELA haploinsufficiency
- CID due to STIM1 deficiency
- CID due to STK4 deficiency
- CID due to TFRC deficiency
- CID with expansion of gamma delta T cells
- CID-MIA/early-onset IBD
- CIDEC-related familial partial lipodystrophy
- CIDEC-related FPLD
- CIDP
- CIE
- CIF
- CIL-F
- Ciliary dysentery
- Ciliopathies with major skeletal involvement
- Ciliopathy
- Cilliers-Beighton syndrome
- CIMAH
- CIMDAG syndrome
- CINCA syndrome
- CIP
- CIP with hyperhidrosis and gastrointestinal dysfunction
- CIPA
- CIPO
- Circumferential skin creases, Kunze type
- Circumscribed acral hypokeratosis
- Circumscribed palmoplantar hypokeratosis
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Cirrhotic cardiomyopathy
- CISS
- Citric acid cycle disorder
- Citrin deficiency
- Citrullinemia
- Citrullinemia type 1
- Citrullinemia type 2
- Citrullinemia type I
- Citrullinemia type II
- CIUE
- CK syndrome
- CLAH
- CLAPO syndrome
- Clark-Baraitser syndrome
- Clarkson disease
- Class I G6PD deficiency
- Class I glucose-6-phosphate dehydrogenase deficiency
- Classic 21-OHD CAH
- Classic 21-OHD CAH, salt wasting form
- Classic 21-OHD CAH, simple virilizing form
- Classic Addison disease
- Classic antiphospholipid syndrome
- Classic APLS
- Classic appendiceal neuroendocrine tumor
- Classic appendix neuroendocrine tumor
- Classic BCKD deficiency
- Classic branched-chain alpha-ketoacid dehydrogenase deficiency
- Classic branched-chain ketoaciduria
- Classic citrullinemia
- Classic CLAH
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency
- Classic eosinophilic pustular folliculitis
- Classic ependymoma
- Classic EPF
- Classic exstrophy of the bladder
- Classic galactosemia
- Classic GCD
- Classic glucose transporter type 1 deficiency syndrome
- Classic GLUT1 deficiency syndrome
- Classic GLUT1-DS
- Classic glycine encephalopathy
- Classic granular corneal dystrophy
- Classic hairy cell leukemia
- Classic Hodgkin disease
- Classic Hodgkin lymphoma
- Classic Hodgkin lymphoma, lymphocyte-depleted type
- Classic Hodgkin lymphoma, lymphocyte-rich type
- Classic Hodgkin lymphoma, mixed cellularity type
- Classic Hodgkin lymphoma, nodular sclerosis type
- Classic Joubert syndrome
- Classic juvenile NCL
- Classic juvenile neuronal ceroid lipofuscinosis
- Classic lattice corneal dystrophy
- Classic lissencephaly
- Classic maple syrup urine disease
- Classic medulloblastoma
- Classic MmD
- Classic MSUD
- Classic multiminicore disease
- Classic multiminicore myopathy
- Classic mycosis fungoides
- Classic neuroendocrine tumor of appendix
- Classic organic aciduria
- Classic pantothenate kinase-associated neurodegeneration
- Classic Pfeiffer syndrome
- Classic phenylketonuria
- Classic pilocytic astrocytoma
- Classic PKU
- Classic PMD
- Classic progressive supranuclear palsy syndrome
- Classic PSP syndrome
- Classic pyoderma gangrenosum
- Classic Refsum disease
- Classic RTA
- Classic SPS
- Classic stiff person syndrome
- Classic xanthinuria
- Classical dermatomyositis
- Classical EDS
- Classical Ehlers-Danlos syndrome
- Classical-like EDS type 1
- Classical-like EDS type 2
- Classical-like Ehlers-Danlos syndrome type 1
- Classical-like Ehlers-Danlos syndrome type 2
- Clayton Smith-Donnai syndrome
- CLCN4-related X-linked intellectual disability syndrome
- CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
- Clear cell adenocarcinoma of the ovary
- Clear cell papillary renal cell carcinoma
- Clear cell renal carcinoma
- Clear cell renal cell adenocarcinoma
- Clear cell renal cell carcinoma
- Clear cell sarcoma of kidney
- Clear cell sarcoma of the tendons and aponeuroses
- clEDS type 1
- clEDS type 2
- Cleft hard palate
- Cleft lip and alveolus
- Cleft lip and palate
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
- Cleft lip with or without cleft palate
- Cleft lip-alveolus-palate syndrome
- Cleft lip-cone rod dystrophy syndrome
- Cleft lip-limb and heart malformations syndrome
- Cleft lip-progressive retinopathy syndrome
- Cleft lip-retinopathy syndrome
- Cleft lip/palate
- Cleft lip/palate with mucous cysts of lower lip
- Cleft lip/palate-abnormal thumbs-microcephaly syndrome
- Cleft lip/palate-deafness-sacral lipoma syndrome
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
- Cleft lip/palate-hearing loss-sacral lipoma syndrome
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- Cleft lip/palate-syndactyly-pili torti syndrome
- Cleft mitral valve
- Cleft nose
- Cleft palate
- Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
- Cleft palate-coloboma-deafness syndrome
- Cleft palate-coloboma-hearing loss syndrome
- Cleft palate-congenital heart defect-intellectual disability syndrome
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
- Cleft palate-large ears-small head syndrome
- Cleft palate-lateral synechia syndrome
- Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome
- Cleft palate-short stature-vertebral anomalies syndrome
- Cleft palate-stapes fixation-oligodontia syndrome
- Cleft soft palate
- Cleft sternum
- Cleft velum
- Cleft velum palatinum
- Clefting-ectropion-conical teeth syndrome
- Cleidocranial dysostosis
- Cleidocranial dysplasia
- Cleidocranial dysplasia and isolated cranial ossification defect
- Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
- Cleidorhizomelic syndrome
- CLIFAHDD syndrome
- Climatic droplet keratopathy
- CLIPPERS
- CLL
- CLL/SLL
- CLN disease
- CLN1 disease
- CLN10 disease
- CLN11 disease
- CLN12 disease
- CLN13 disease
- CLN2 disease
- CLN3 disease
- CLN4 disease
- CLN4B disease
- CLN5 disease
- CLN6 disease
- CLN7 disease
- CLN8 disease
- CLN8 disease, Northern epilepsy variant
- Cloacal exstrophy
- Clonal hypereosinophilic syndrome
- Clonorchiasis
- Closed iniencephaly
- Closed spina bifida
- Closed spinal dysraphism
- Clouston syndrome
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
- Cloverleaf skull-micromelic bone dysplasia syndrome
- Cloverleaf skull-multiple congenital anomalies syndrome
- CLOVES syndrome
- CLP1-related pontocerebellar hypoplasia
- CLPD-NK
- CLPED1
- CLS
- CLWM
- CM-AVM
- CMAMMA
- CMC
- CMD
- CMD due to dystroglycanopathy
- CMD with cerebellar involvement
- CMD with intellectual disability
- CMD with intellectual disability and severe epilepsy
- CMD without intellectual disability
- CMD-CRB
- CMD-MR
- CMD-no MR
- CMD1A
- CMD1B
- CMDH
- CML
- CMML
- CMMR-D syndrome
- CMP-sialic acid transporter deficiency
- CMPD-U
- CMRD
- CMS
- CMT-deafness-intellectual disability syndrome
- CMT/HMSN
- CMT1
- CMT1A
- CMT1B
- CMT1C
- CMT1D
- CMT1E
- CMT1F
- CMT1X
- CMT2
- CMT2 due to DGAT2 mutation
- CMT2 due to KIF5A mutation
- CMT2 due to TFG mutation
- CMT2 due to VCP mutation
- CMT2 with giant axons
- CMT2A1
- CMT2A2
- CMT2B
- CMT2C
- CMT2D
- CMT2DD
- CMT2E
- CMT2F
- CMT2G
- CMT2H
- CMT2I
- CMT2J
- CMT2K
- CMT2L
- CMT2M
- CMT2N
- CMT2O
- CMT2P
- CMT2Q
- CMT2R
- CMT2S
- CMT2T
- CMT2U
- CMT2V
- CMT2W
- CMT2X
- CMT2Y
- CMT2Z
- CMT3X
- CMT4
- CMT4A
- CMT4B1
- CMT4B2
- CMT4B3
- CMT4C
- CMT4D
- CMT4E
- CMT4F
- CMT4G
- CMT4H
- CMT4J
- CMT4K
- CMT4X
- CMT5X
- CMT6
- CMT6X
- CMTC
- CMTDI
- CMTDIA
- CMTDIB
- CMTDIC
- CMTDID
- CMTDIE
- CMTDIF
- CMTX
- CMTX1
- CMTX2
- CMTX3
- CMTX4
- CMTX5
- CMTX6
- CMUSE
- CMV disease in patients with impaired cell mediated immunity deemed at risk
- CNCL
- CNKL
- CNM
- CNM4
- CNO/CRMO
- CNS PNET
- CNS tuberculosis
- CNTNAP2-related DEE
- CNTNAP2-related developmental and epileptic encephalopathy
- COACH syndrome
- Coarctation of the abdominal aorta
- COASY protein-associated neurodegeneration
- COASY-related pontocerebellar hypoplasia
- Coats disease
- Coats plus syndrome
- Cobalamin C defect
- Cobalamin D defect
- Cobalamin F defect
- Cobalamin J defect
- Cobb syndrome
- Cobblestone lissencephaly
- Cobblestone lissencephaly without muscular or eye involvement
- Cobblestone lissencephaly without muscular or ocular involvement
- Cocaine embryofetopathy
- Cocaine intoxication
- Coccidioides infection
- Coccidioidomycosis
- Cochlear nerve deficiency
- Cochleosaccular degeneration-cataract syndrome
- Cochleovestibular malformation
- Cockayne syndrome
- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Cockayne syndrome type 3
- Cockayne syndrome type I
- Cockayne syndrome type II
- Cockayne syndrome type III
- Cockett syndrome
- CODAS syndrome
- Coenzyme Q10 deficiency
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- COFS syndrome
- COG1-CDG
- COG2-CDG
- COG2-related congenital disorder of glycosylation
- COG4-CDG
- COG5-CDG
- COG6-CGD
- COG7-CDG
- COG8-CDG
- Cogan microcystic epithelial dystrophy
- Cogan syndrome
- Cogan-Reese syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Cohen syndrome
- Cohen-Gibson syndrome
- COIF
- COIF syndrome
- COL4A1 or COL4A2-related cerebral angiopathy
- COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency
- COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency
- COL4A1 or COL4A2-related cerebral small vessel disease
- COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
- COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency
- COL4A1-related brain small vessel disease with hemorrhage
- COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
- COL4A1/2-related familial vascular leukoencephalopathy
- COL6-RD
- Colchicine poisoning
- Cold agglutinin disease
- Cold agglutinin syndrome
- Cold AIHA
- Cold-induced sweating syndrome
- Cold-induced sweating syndrome-hyperthermia spectrum
- Cole disease
- Cole-Carpenter syndrome
- Collagen type III glomerulopathy
- Collagen VI-related congenital muscular dystrophy
- Collagen-related glomerular basement membrane disease
- Collagenofibrotic glomerulopathy
- Collecting duct carcinoma
- Collins-Pope syndrome
- Coloboma of choroid and retina
- Coloboma of eye lens
- Coloboma of eyelid
- Coloboma of inferior eyelid
- Coloboma of iris
- Coloboma of macula
- Coloboma of macula-brachydactyly type B syndrome
- Coloboma of optic disc
- Coloboma of optic nerve with renal disease
- Coloboma of optic papilla
- Coloboma of superior eyelid
- Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
- Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
- Colobomatous macrophthalmia-microcornea syndrome
- Colobomatous microphthalmia
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
- Colonic aganglionosis
- Colonic atresia
- Colonic duplication
- Colonic NET
- Color blindness, blue monocone monochromatic type
- Color-vision disease
- Colorado tick encephalitis
- Colorado tick fever
- Colorado tick-borne disease
- Colorectal adenomatous polyposis
- Colorectal adenomatous polyposis due to monosomy 5q22.2
- Combined 17-hydroxylase/17,20-lyase deficiency
- Combined alpha-delta platelet storage pool deficiency
- Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome
- Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
- Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
- Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
- Combined defect in adenosylcobalamin and methylcobalamin synthesis
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
- 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 factor V and factor VIII
- Combined deficiency of factor VII and factor X
- Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
- Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
- Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
- Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
- Combined dystonia
- Combined form of soft and hard cleft palate
- Combined hamartoma of the retina and retinal pigment epithelium
- Combined hamartoma of the retina and RPE
- Combined HCC-CC
- Combined hepatocellular carcinoma and cholangiocarcinoma
- Combined hepatocellular-cholangiocarcinoma
- Combined hyperactive dysfunction syndrome of the cranial nerves
- Combined immunodeficiency due to CARD11 deficiency
- Combined immunodeficiency due to CARMIL2 deficiency
- Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency
- Combined immunodeficiency due to CD27 deficiency
- Combined immunodeficiency due to CD3gamma deficiency
- Combined immunodeficiency due to CD70 deficiency
- Combined immunodeficiency due to CRAC channel dysfunction
- Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency
- Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
- Combined immunodeficiency due to DOCK2 deficiency
- Combined immunodeficiency due to DOCK8 deficiency
- Combined immunodeficiency due to FCHO1 deficiency
- Combined immunodeficiency due to FOXN1 haploinsufficiency
- Combined immunodeficiency due to GINS1 deficiency
- Combined immunodeficiency due to IKAROS deficiency
- Combined immunodeficiency due to IL21R deficiency
- Combined immunodeficiency due to ITK deficiency
- Combined immunodeficiency due to LRBA deficiency
- Combined immunodeficiency due to MAGT1 deficiency
- Combined immunodeficiency due to MALT1 deficiency
- Combined immunodeficiency due to Moesin deficiency
- Combined immunodeficiency due to ORAI1 deficiency
- Combined immunodeficiency due to OX40 deficiency
- Combined immunodeficiency due to partial RAG1 deficiency
- Combined immunodeficiency due to PGM3 deficiency
- Combined immunodeficiency due to RAG 1/2 deficiency
- Combined immunodeficiency due to RELA haploinsufficiency
- Combined immunodeficiency due to RLTPR deficiency
- Combined immunodeficiency due to STIM1 deficiency
- Combined immunodeficiency due to STK4 deficiency
- Combined immunodeficiency due to TFRC deficiency
- Combined immunodeficiency due to ZAP70 deficiency
- Combined immunodeficiency with childhood-onset Kaposi sarcoma
- Combined immunodeficiency with expansion of gamma delta T cells
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Combined immunodeficiency with granulomatosis
- Combined immunodeficiency with hypereosinophilia
- Combined immunodeficiency with impaired immunity to HHV-8
- Combined immunodeficiency with impaired immunity to human herpes virus 8
- Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia
- Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia
- Combined immunodeficiency-enteropathy spectrum
- Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
- Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia
- Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
- Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
- Combined malonic and methylmalonic acidemia
- Combined malonic and methylmalonic aciduria
- Combined oxidative phosphorylation defect
- Combined oxidative phosphorylation defect type 10
- Combined oxidative phosphorylation defect type 11
- Combined oxidative phosphorylation defect type 12
- Combined oxidative phosphorylation defect type 13
- Combined oxidative phosphorylation defect type 14
- Combined oxidative phosphorylation defect type 15
- Combined oxidative phosphorylation defect type 16
- Combined oxidative phosphorylation defect type 17
- Combined oxidative phosphorylation defect type 2
- Combined oxidative phosphorylation defect type 20
- Combined oxidative phosphorylation defect type 21
- Combined oxidative phosphorylation defect type 23
- Combined oxidative phosphorylation defect type 24
- Combined oxidative phosphorylation defect type 25
- Combined oxidative phosphorylation defect type 26
- Combined oxidative phosphorylation defect type 27
- Combined oxidative phosphorylation defect type 28
- Combined oxidative phosphorylation defect type 29
- Combined oxidative phosphorylation defect type 30
- Combined oxidative phosphorylation defect type 39
- Combined oxidative phosphorylation defect type 4
- Combined oxidative phosphorylation defect type 5
- Combined oxidative phosphorylation defect type 7
- Combined oxidative phosphorylation defect type 8
- Combined oxidative phosphorylation defect type 9
- Combined OXPHOS defect
- Combined OXPHOS deficiency
- Combined pancreatic lipase-colipase deficiency
- Combined pituitary hormone deficiencies, genetic forms
- Combined prosaposin deficiency
- Combined pulmonary fibrosis-emphysema syndrome
- Combined T and B cell immunodeficiency
- Comedo nevus of the palm
- COMMAD syndrome
- Commissural facial cleft
- Commissural lip fistula
- Common aorticopulmonary trunk
- Common arterial trunk
- Common arterial trunk with aortic dominance
- Common arterial trunk with pulmonary dominance and interrupted aortic arch
- Common cystic lymphatic malformation
- Common variable immunodeficiency
- Communicating congenital bronchopulmonary-foregut malformation
- Complement component 3 deficiency
- Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
- Complete androgen insensitivity syndrome
- Complete androgen resistance syndrome
- Complete atrioventricular canal
- Complete atrioventricular canal defect
- Complete atrioventricular canal defect with ventricular hypoplasia
- Complete atrioventricular canal defect without ventricular hypoplasia
- Complete atrioventricular canal defect-tetralogy of Fallot
- Complete atrioventricular septal defect
- Complete atrioventricular septal defect with atrial and ventricular components
- Complete atrioventricular septal defect with balanced ventricles
- Complete atrioventricular septal defect with ventricular hypoplasia
- Complete atrioventricular septal defect with ventricular imbalance
- Complete atrioventricular septal defect without ventricular hypoplasia
- Complete atrioventricular septal defect-tetralogy of Fallot
- Complete AVSD
- Complete AVSD with ventricular hypoplasia
- Complete AVSD without ventricular hypoplasia
- Complete AVSD-tetralogy of Fallot
- Complete cryptophthalmia
- Complete deficiency of methylmalonyl-CoA mutase
- Complete factor I deficiency
- Complete growth hormone insensitivity
- Complete hydatidiform mole
- Complete LCAT deficiency
- Complete mevalonate kinase deficiency
- Complete molar pregnancy
- Complete or incomplete color blindness
- Complete septate uterus
- Complete situs inversus
- Complete situs inversus viscerum
- Complete transposition
- Complete unilateral aplasia of the Müllerian ducts
- Complete unilateral Müllerian aplasia
- Complex chromosomal rearrangement
- Complex familial spastic paraplegia
- Complex GKD
- Complex glycerol kinase deficiency
- Complex hereditary spastic paraplegia
- Complex HSP
- Complex lethal osteochondrodysplasia
- Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
- Complex neurodevelopmental disorder
- Complex regional pain syndrome
- Complex regional pain syndrome type 1
- Complex regional pain syndrome type 2
- Complex SPG
- Complex vascular malformation with associated anomalies
- Complex X-linked HSP
- Complex X-linked SPG
- Complicated familial spastic paraplegia
- Complicated hereditary spastic paraplegia
- Complicated HSP
- Complicated SPG
- Complicated X-linked HSP
- Complicated X-linked SPG
- Complication after organ transplantation
- Complication in hemodialysis
- Complications after hematopoietic stem cell transplantation
- Complications after HSCT
- Composite hemangioendothelioma
- Composite Hodgkin and non-Hodgkin lymphoma
- Composite lymphoma
- Comèl-Netherton syndrome
- Concentric demyelination
- Conductive deafness-malformed external ear syndrome
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Conductive hearing loss-malformed external ear syndrome
- Conductive hearing loss-ptosis-skeletal anomalies syndrome
- Cone dystrophy
- Cone dystrophy with supernormal rod electroretinogram
- Cone dystrophy with supernormal rod ERG
- Cone dystrophy with supernormal rod response
- Cone dystrophy with supernormal scotopic electroretinogram
- Cone rod dystrophy
- Cone rod dystrophy-amelogenesis imperfecta syndrome
- Cone rod dystrophy-short stature syndrome
- Confetti-like macular atrophy
- Congenital abducens nerve palsy
- Congenital absence of fingerprints
- Congenital absence of lacrimal puncta and salivary glands
- Congenital absence of pain with hyperhidrosis
- Congenital absence of pain with severe intellectual disability
- Congenital absence of the pulmonary valve
- Congenital absence of the scrotum
- Congenital absence of ulna and fibula
- Congenital absence of uterus and vagina
- Congenital absence of vagina
- Congenital achiasma
- Congenital ADAMTS-13 deficiency
- 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 3-beta-hydroxysteroid dehydrogenase deficiency
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital adrenal hyperplasia due to cytochrome POR deficiency
- Congenital adrenal hypoplasia
- Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- Congenital agenesis of the scrotum
- Congenital alacrima
- Congenital aleukocytosis
- Congenital alpha2-antiplasmin deficiency
- Congenital alveolar capillary dysplasia
- Congenital amegakaryocytic thrombocytopenia
- Congenital amyoplasia
- Congenital analbuminemia
- Congenital analgesia with hyperhidrosis
- Congenital analgesia with severe intellectual disability
- Congenital anomalies of kidney and urinary tract
- Congenital anomaly of hepatic vein
- Congenital anomaly of interventricular communication
- Congenital anomaly of superior caval vein
- Congenital anomaly of superior vena cava
- Congenital anomaly of the coronary sinus
- Congenital anomaly of the great arteries
- Congenital anomaly of the great veins
- Congenital anomaly of the inferior caval vein
- Congenital anomaly of the inferior vena cava
- Congenital anomaly of the IVC
- Congenital anomaly of the SVC
- Congenital anomaly of the tricuspid valve chordae
- Congenital anomaly of tricuspid chordae tendineae
- Congenital anomaly of tricuspid tendinous chords
- Congenital anophthalmos with cyst
- Congenital anterior megalophthalmia
- Congenital aorta, aortic arch or pulmonary arteries anomaly
- Congenital aortic valve atresia
- Congenital aortic valve dysplasia
- Congenital aortic valve stenosis
- Congenital aortopulmonary artery fistula
- Congenital aortopulmonary septal defect
- Congenital aortopulmonary window
- Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
- Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
- Congenital arteriovenous anastomoses of the retina
- Congenital arteriovenous communication of the retina
- Congenital arteriovenous fistula
- Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
- Congenital atransferrinemia
- Congenital atrioventricular block
- Congenital auditory ossicle malformation without external ear abnormality
- Congenital autosomal recessive small-platelet thrombocytopenia
- Congenital axonal neuropathy with encephalopathy
- Congenital benign spinal muscular atrophy with contractures
- Congenital bilateral absence of vas deferens
- Congenital bilateral agenesis of vas deferens
- Congenital bilateral aplasia of vas deferens
- Congenital bilateral megacalycosis
- Congenital bile acid synthesis defect
- Congenital bile acid synthesis defect type 1
- Congenital bile acid synthesis defect type 2
- Congenital bile acid synthesis defect type 3
- Congenital bile acid synthesis defect type 4
- Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
- Congenital brain dysgenesis due to glutamine synthetase deficiency
- Congenital bronchopulmonary sequestration
- Congenital bullous poikiloderma
- Congenital cataract microcornea with corneal opacity
- Congenital cataract-anterior segment dysgenesis syndrome
- Congenital cataract-anterior segment mesenchymal dysgenesis syndrome
- Congenital cataract-ASD syndrome
- Congenital cataract-ASGD syndrome
- Congenital cataract-ASMD syndrome
- Congenital cataract-deafness-severe developmental delay syndrome
- Congenital cataract-hearing loss-severe developmental delay syndrome
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Congenital central alveolar hypoventilation syndrome
- Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
- Congenital central hypoventilation syndrome
- Congenital cerebellar ataxia due to RNU12 mutation
- Congenital cervical spinal stenosis
- Congenital cervical vertebral fusion
- Congenital chloride diarrhea
- Congenital chronic diarrhea with exudative enteropathy
- Congenital chronic diarrhea with protein-losing enteropathy
- Congenital chylothorax
- Congenital circumferential skin folds
- Congenital Claude-Bernard-Horner syndrome
- Congenital CNIII lesion
- Congenital CNIV palsy
- Congenital CNVI palsy
- Congenital combined pituitary hormone deficiency
- Congenital communicating hydrocephalus
- Congenital complete agenesis of pericardium
- Congenital constriction ring syndrome
- Congenital contractural arachnodactyly
- Congenital convex foot
- Congenital convex pes valgus
- Congenital cornea plana
- Congenital coronary aneurysm
- Congenital coronary arterial orifice stenosis or atresia
- Congenital coronary artery aneurysm
- Congenital cystic adenomatoid malformation of the lung
- Congenital cystic adenomatoid malformation of the lung type 0
- Congenital cystic adenomatoid malformation of the lung type 1
- Congenital cystic adenomatoid malformation of the lung type 2
- Congenital cystic adenomatoid malformation of the lung type 3
- Congenital cystic adenomatoid malformation of the lung type 4
- Congenital cystic adenomatous malformation of the lung
- Congenital cystic adenomatous malformation of the lung type 0
- Congenital cystic adenomatous malformation of the lung type 1
- Congenital cystic adenomatous malformation of the lung type 2
- Congenital cystic adenomatous malformation of the lung type 3
- Congenital cystic adenomatous malformation of the lung type 4
- Congenital cystic dilatation of the biliary tract
- Congenital cystic disease of the lung
- Congenital cystic disease of the lung type 1
- Congenital cystic disease of the lung type 2
- Congenital cystic disease of the lung type 3
- Congenital cystic eye
- Congenital deficiency in alpha-fetoprotein
- Congenital deformities of fingers
- Congenital deformities of limbs
- Congenital diabetes mellitus
- Congenital diaphragmatic hernia
- Congenital disorder of glycosylation
- Congenital disorder of glycosylation due to PIGG deficiency
- Congenital disorder of glycosylation due to PIGL deficiency
- Congenital disorder of glycosylation due to PIGM deficiency
- Congenital disorder of glycosylation due to PIGN deficiency
- Congenital disorder of glycosylation due to PIGT deficiency
- Congenital disorder of glycosylation type 1a
- Congenital disorder of glycosylation type 1b
- 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 1w
- Congenital disorder of glycosylation type 1x
- 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 2l
- Congenital disorder of glycosylation type 2m
- Congenital disorder of glycosylation type 2n
- Congenital disorder of glycosylation type 2o
- Congenital disorder of glycosylation type 2p
- 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 II due to MAN1B1 deficiency
- Congenital disorder of glycosylation type IIa
- Congenital disorder of glycosylation type IIb
- 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 IIn
- Congenital disorder of glycosylation type IIo
- Congenital disorder of glycosylation type IIp
- Congenital disorder of glycosylation type Ij
- Congenital disorder of glycosylation type Ik
- 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 disorder of glycosylation with cardiac malformation as a major feature
- Congenital disorder of glycosylation with deafness as a major feature
- Congenital disorder of glycosylation with developmental anomaly
- Congenital disorder of glycosylation with dilated cardiomyopathy
- Congenital disorder of glycosylation with epilepsy as a major feature
- Congenital disorder of glycosylation with hearing loss as a major feature
- Congenital disorder of glycosylation with hepatic involvement
- Congenital disorder of glycosylation with intestinal involvement
- Congenital disorder of glycosylation with nephropathy as a major feature
- Congenital disorder of glycosylation with neurological involvement
- Congenital disorder of glycosylation with skin involvement
- Congenital disorder of glycosylation-related bone disorder
- Congenital double pylorus
- Congenital dyserythropoietic anemia
- Congenital dyserythropoietic anemia due to KLF1 mutation
- Congenital dyserythropoietic anemia type 1
- Congenital dyserythropoietic anemia type 2
- Congenital dyserythropoietic anemia type 3
- Congenital dyserythropoietic anemia type 4
- Congenital dyserythropoietic anemia type I
- Congenital dyserythropoietic anemia type II
- Congenital dyserythropoietic anemia type III
- Congenital dyserythropoietic anemia type IV
- Congenital dyserythropoietic anemia with thombocytopenia
- Congenital EBV infection
- Congenital ectropion
- Congenital ectropion uveae
- Congenital elbow dislocation, bilateral
- Congenital elbow dislocation, unilateral
- Congenital enterocyte heparan sulfate deficiency
- Congenital enterokinase deficiency
- Congenital enteropathy due to enteropeptidase deficiency
- Congenital enteropathy involving intestinal mucosa development
- Congenital enterovirus infection
- Congenital Epstein-Barr virus infection
- Congenital epulis
- Congenital erosive and vesicular dermatosis
- Congenital erosive and vesicular dermatosis with reticulated supple scarring
- Congenital erythrocytosis due to erythropoietin receptor mutation
- Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome
- Congenital erythropoietic porphyria
- Congenital esophageal atresia
- Congenital esophageal diverticulum
- Congenital esophageal pouch
- Congenital esophageal stenosis
- Congenital essential nyctalopia
- Congenital estrogen deficiency
- Congenital extrapulmonary sequestration
- Congenital eyelid retraction
- Congenital F8 deficiency
- Congenital F9 deficiency
- Congenital factor II deficiency
- Congenital factor IX deficiency
- Congenital factor V deficiency
- Congenital factor VII deficiency
- Congenital Factor VIII deficiency
- Congenital factor X deficiency
- Congenital factor XI deficiency
- Congenital factor XII deficiency
- Congenital factor XIII deficiency
- Congenital fiber-type disproportion myopathy
- Congenital fibrinogen deficiency
- Congenital fibrosis of extraocular muscles
- Congenital folate malabsorption
- Congenital fourth cranial nerve palsy
- Congenital functional defect of phagocyte
- Congenital functional phagocyte defect
- Congenital fused cervical segments
- Congenital FVIII deficiency
- Congenital generalized hypercontractile muscle stiffness syndrome
- Congenital generalized hypertrichosis terminalis
- Congenital generalized hypertrichosis, Ambras type
- Congenital generalized hypertrichosis, Macias-Flores type
- Congenital generalized lipodystrophy
- Congenital genu flexum
- Congenital genu recurvatum
- Congenital Gerbode defect
- Congenital gingival cell tumor
- Congenital glaucoma
- Congenital glucokinase-related hyperinsulinism
- Congenital granular cell tumor
- Congenital Hageman factor deficiency
- Congenital heart block
- Congenital heart defect-round face-developmental delay syndrome
- Congenital hemangioma
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- Congenital hereditary endothelial dystrophy type 2
- Congenital hereditary endothelial dystrophy type II
- Congenital hereditary facial palsy with variable deafness
- Congenital hereditary facial palsy with variable hearing loss
- Congenital hereditary facial paralysis with variable deafness
- Congenital hereditary facial paralysis-variable deafness syndrome
- Congenital hereditary facial paralysis-variable hearing loss syndrome
- Congenital hereditary stromal dystrophy
- Congenital herpes simplex virus infection
- Congenital high-molecular-weight kininogen deficiency
- Congenital Horner syndrome
- Congenital hydrocephalus
- Congenital hyperinsulinism due to HNF4A deficiency
- Congenital hypertrichosis-acromegaloid facial features spectrum
- Congenital hypertrichosis-coarse facial features spectrum
- Congenital hypogonadotropic hypogonadism
- Congenital hypogonadotropic hypogonadism with anosmia
- Congenital hypomelanotic freckle
- Congenital hypopituitarism
- Congenital hypothyroidism
- Congenital hypothyroidism due to developmental anomaly
- Congenital hypothyroidism due to maternal intake of antithyroid drugs
- Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- Congenital hypotransferrinemia
- Congenital ichthyosiform erythroderma
- Congenital ichthyosis type 4
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
- Congenital ichthyosis-microcephalus-quadriplegia syndrome
- Congenital ichthyosis-microcephalus-tetraplegia syndrome
- Congenital IGHD
- Congenital IGHD type IA
- Congenital IGHD type IB
- Congenital IGHD type II
- Congenital IGHD type III
- Congenital indifference to pain with hyperhidrosis
- Congenital infiltrating lipomatosis of the face
- Congenital insensitivity to pain and thermal analgesia
- Congenital insensitivity to pain syndrome, Marsili type
- Congenital insensitivity to pain with anhidrosis
- Congenital insensitivity to pain with hyperhidrosis
- Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
- Congenital insensitivity to pain with preserved temperature sensation
- Congenital insensitivity to pain with severe intellectual disability
- Congenital insensitivity to pain with severe non-progressive cognitive delay
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy
- Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
- Congenital intestinal aganglionosis
- Congenital intestinal disease due to an enzymatic defect
- Congenital intestinal transport defect
- Congenital intrapulmonary sequestration
- Congenital intrauterine infection-like syndrome
- Congenital intrinsic factor deficiency
- Congenital isolated ACTH deficiency
- Congenital isolated GH deficiency
- Congenital isolated GH deficiency type IA
- Congenital isolated GH deficiency type IB
- Congenital isolated GH deficiency type II
- Congenital isolated GH deficiency type III
- Congenital isolated growth hormone deficiency
- Congenital isolated growth hormone deficiency type IA
- Congenital isolated growth hormone deficiency type IB
- Congenital isolated growth hormone deficiency type II
- Congenital isolated growth hormone deficiency type III
- Congenital isolated hyperinsulinism
- Congenital joint dislocations
- Congenital knee dislocation
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- Congenital lactase deficiency
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Congenital laryngeal cyst
- Congenital laryngeal palsy
- Congenital laryngomalacia
- Congenital left ventricular aneurysm
- Congenital lethal erythroderma
- Congenital lethal myopathy, Compton-North type
- Congenital limb malformation
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
- Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
- Congenital lobar emphysema
- Congenital lobar hyperinflation
- Congenital long QT syndrome
- Congenital macroglossia
- Congenital major airway collapse
- Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
- Congenital malformation of the eye with glaucoma as a major feature
- Congenital malformation of the eyelid
- Congenital megacalycosis
- Congenital megaconial myopathy
- Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
- Congenital mesoblastic nephroma
- Congenital methemoglobinemia
- Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
- Congenital microcoria
- Congenital microgastria
- Congenital microvillous atrophy
- Congenital microvillus atrophy
- Congenital Minamata disease
- Congenital miosis
- Congenital mitral malformation
- Congenital mitral stenosis
- Congenital mitral valve insufficiency and/or stenosis
- Congenital multicore myopathy with external ophthalmoplegia
- Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- Congenital muscular dystrophy
- Congenital muscular dystrophy due to dystroglycanopathy
- Congenital muscular dystrophy due to laminin alpha2 deficiency
- Congenital muscular dystrophy due to LMNA mutation
- Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
- Congenital muscular dystrophy type 1A
- Congenital muscular dystrophy type 1B
- Congenital muscular dystrophy with cerebellar involvement
- Congenital muscular dystrophy with hyperlaxity
- Congenital muscular dystrophy with integrin alpha-7 deficiency
- Congenital muscular dystrophy with intellectual disability
- 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 without intellectual disability
- Congenital muscular dystrophy, Davignon-Chauveau type
- Congenital muscular dystrophy, Fukuyama type
- Congenital muscular dystrophy-cataract-intellectual disability syndrome
- Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Congenital myasthenic syndrome
- Congenital myasthenic syndromes with glycosylation defect
- Congenital myopathy
- Congenital myopathy with cores
- Congenital myopathy with excess of thin filaments
- Congenital myopathy with fast-twitch fiber atrophy
- Congenital myopathy with internal nuclei and atypical cores
- Congenital myopathy with myasthenic-like onset
- Congenital myopathy with reduced type 2 muscle fibers
- Congenital myopathy with reduced type II muscle fibers
- Congenital myopathy with type 2 muscle fiber atrophy
- Congenital myopathy with type II fiber atrophy
- Congenital myopathy, Paradas type
- Congenital myopathy-cleft palate-malignant hyperthermia syndrome
- Congenital myosclerosis, Löwenthal type
- Congenital myotonia
- Congenital NAD deficiency disorder
- Congenital narrowing of cervical spinal canal
- Congenital nemaline myopathy
- Congenital nephrosis-cerebral ventriculomegaly syndrome
- Congenital nephrotic syndrome, Finnish type
- Congenital neutropenia
- Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
- Congenital neutropenia-CID due to MKL1 deficiency
- Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency
- Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome
- Congenital non-communicating hydrocephalus
- Congenital non-obstructive hydrocephalus
- Congenital nonprogressive spinal muscular atrophy
- Congenital nonprogressive spinocerebellar ataxia
- Congenital obstructive hydrocephalus
- Congenital oculomotor nerve palsy
- Congenital oesophageal stenosis
- Congenital onychodysplasia of the index fingers
- Congenital optic disc excavation
- Congenital optic disc excavation of genetic origin
- Congenital or early infantile CACH syndrome
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- Congenital PAI-1 deficiency
- Congenital pancreatic agenesis
- Congenital pancreatic cyst
- Congenital panfollicular nevus
- Congenital PAP
- Congenital partial agenesis of pericardium
- Congenital partial pulmonary venous return anomaly
- Congenital patella dislocation
- Congenital patent ductus arteriosus aneurysm
- Congenital pericardium anomaly
- Congenital pernicious anemia
- Congenital pigmented nevus
- Congenital plasminogen activator inhibitor type 1 deficiency
- Congenital polycythemia due to erythropoietin receptor mutation
- Congenital portosystemic shunt
- Congenital portosystemic venous fistula
- Congenital PRCA
- Congenital prekallikrein deficiency
- Congenital primary aphakia
- Congenital primary lymphedema of Gordon
- Congenital primary lymphedema without systemic or visceral involvement
- Congenital primary megalo-ureter
- Congenital primary megaureter
- Congenital primary megaureter, nonrefluxing and unobstructed form
- Congenital primary megaureter, obstructed form
- Congenital primary megaureter, refluxing and obstructed form
- Congenital primary megaureter, refluxing form
- Congenital proconvertin deficiency
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Congenital pseudarthrosis of the clavicle
- Congenital pseudarthrosis of the femur
- Congenital pseudarthrosis of the fibula
- Congenital pseudarthrosis of the radius
- Congenital pseudarthrosis of the tibia
- Congenital pseudarthrosis of the ulna
- Congenital pseudoarthrosis of the clavicle
- Congenital pseudoarthrosis of the femur
- Congenital pseudoarthrosis of the fibula
- Congenital pseudoarthrosis of the limbs
- Congenital pseudoarthrosis of the radius
- Congenital pseudoarthrosis of the tibia
- Congenital pseudoarthrosis of the ulna
- Congenital ptosis
- Congenital pulmonary airway malformation
- Congenital pulmonary airway malformation type 0
- Congenital pulmonary airway malformation type 1
- Congenital pulmonary airway malformation type 2
- Congenital pulmonary airway malformation type 3
- Congenital pulmonary airway malformation type 4
- Congenital pulmonary alveolar proteinosis
- Congenital pulmonary lymphangiectasia
- Congenital pulmonary sequestration
- Congenital pulmonary valvar stenosis
- Congenital pulmonary vein atresia
- Congenital pulmonary vein stenosis
- Congenital pulmonary veins anomaly
- Congenital pulmonary veins atresia or stenosis
- Congenital pulmonary venolobar syndrome
- Congenital pulmonary venous connection anomaly
- Congenital pulmonary venous return anomaly
- Congenital pure red cell aplasia
- Congenital PVA
- Congenital renal artery stenosis
- Congenital renovascular hypoplasia
- Congenital respiratory-biliary fistula
- Congenital reticular ichthyosiform erythroderma
- Congenital retinal arteriovenous anastomoses
- Congenital retinal arteriovenous communication
- Congenital retinal detachment
- Congenital retinal telangiectasia
- Congenital ring constrictions
- Congenital rocker-bottom foot
- Congenital rubella syndrome
- Congenital scalp defects with distal limb anomalies
- Congenital scalp defects with distal limb reduction anomalies
- Congenital scrotal absence
- Congenital scrotal agenesis
- Congenital secondary erythrocytosis
- Congenital secondary polycythemia
- Congenital short bowel syndrome
- Congenital sialidosis type 2
- Congenital sideroblastic anemia
- Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- Congenital smooth muscle hamartoma
- Congenital sodium diarrhea
- Congenital spondyloepiphyseal dysplasia
- Congenital stationary night blindness
- Congenital stationary night blindness, Oguchi type
- Congenital stenosis of pulmonary valve
- Congenital stenosis of the cervical spine
- Congenital stenosis of the inferior caval vein
- Congenital stenosis of the inferior vena cava
- Congenital stenosis of the IVC
- Congenital stenosis or atresia of a coronary ostium
- Congenital stiff man syndrome
- Congenital stromal corneal dystrophy
- Congenital Stuart factor deficiency
- Congenital subglottic stenosis
- Congenital sucrase-isomaltase deficiency
- Congenital sucrose intolerance
- Congenital superior oblique palsy
- Congenital suprabulbar paresis
- Congenital supravalvular mitral ring
- Congenital symblepharon
- Congenital syphilis
- Congenital syringomyelia
- Congenital systemic arteriovenous fistula
- Congenital systemic veins anomaly
- Congenital temporomandibular joint ankylosis
- Congenital third cranial nerve palsy
- Congenital thrombotic thrombocytopenic purpura
- Congenital thyroid malformation without hypothyroidism
- Congenital total pulmonary venous return anomaly
- Congenital toxoplasmosis
- Congenital tracheal stenosis
- Congenital tracheobronchomegaly
- Congenital tracheomalacia
- Congenital tricuspid malformation
- Congenital tricuspid stenosis
- Congenital tricuspid valve dysplasia
- Congenital trigeminal anesthesia
- Congenital trismus
- Congenital tritanopia
- Congenital trochlear nerve palsy
- Congenital TTP
- Congenital tubular nose
- Congenital tufting enteropathy
- Congenital unguarded mitral orifice
- Congenital unguarded tricuspid orifice
- Congenital unilateral hypoplasia of depressor anguli oris
- Congenital urachal anomaly
- Congenital varicella syndrome
- Congenital vascular bone syndrome
- Congenital velopharyngeal incompetence
- Congenital ventricular septal anomaly
- Congenital vertebral-cardiac-renal anomalies syndrome
- Congenital vertical talus
- Congenital vertical talus, bilateral
- Congenital vertical talus, unilateral
- Congenital vitamin K-dependent coagulation factors deficiency
- Congenital vocal cord paralysis
- Congenital Volkmann ischemic contracture syndrome
- Congenital-onset myotonic dystrophy type 1
- Congenital-onset Steinert disease
- Congenital-onset Steinert myotonic dystrophy
- Congenitally corrected transposition of the great arteries
- Congenitally corrected transposition of the great vessels
- Congenitally short costocoracoid ligament
- Congenitally uncorrected transposition of the great arteries
- Congenitally uncorrected transposition of the great arteries with cardiac malformation
- Congenitally uncorrected transposition of the great arteries with coarctation
- Congenitally uncorrected transposition of the great vessels
- Congenitally uncorrected transposition of the great vessels with cardiac malformation
- Congenitally uncorrected transposition of the great vessels with coarctation
- Congo fever
- Congo hemorrhagic fever
- Congo red-negative amyloidosis-like glomerulopathy
- Conjoined twins
- Conjunctival malignant melanoma
- Conjunctival melanoma
- Connatal PMD
- Connective tissue disorder due to LH3 deficiency
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency
- Cono-spondylar dysplasia
- Conorenal syndrome
- Conotruncal anomaly face syndrome
- Conotruncal heart malformations
- Conradi-Hünermann-Happle syndrome
- Constitutional anemia due to iron metabolism disorder
- Constitutional deficiency anemia
- Constitutional dyserythropoietic anemia
- Constitutional functional phagocyte defect
- Constitutional hemolytic anemia due to acanthocytic disorder
- Constitutional hemolytic anemia due to acanthocytosis
- Constitutional megaloblastic anemia due to folate metabolism disorder
- Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
- Constitutional megaloblastic anemia with severe neurologic disease
- Constitutional mismatch repair deficiency syndrome
- Constitutional neutropenia
- Constitutional sideroblastic anemia
- Constitutional thrombocytopenia without extra-hematopoietic manifestations
- Constriction band syndrome
- Constrictive bronchiolitis
- Contiguous ABCD1 DXS1357E deletion syndrome
- Continuous muscle fiber activity syndrome
- Continuous spikes and waves during sleep
- Continuous spikes and waves during slow-wave sleep
- Contractures-developmental delay-Pierre Robin syndrome
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
- Conus sparing spinal cord lipoma
- Conus spinal cord lipoma
- Cooks syndrome
- Cooley anemia
- Cooper-Jabs syndrome
- COP
- COPA syndrome
- CoPAN
- Copenhagen syndrome
- Coppock-like cataract
- CoQ10 deficiency
- COQ4-related neonatal encephalomyopathy
- COQ7-related distal hereditary motor neuropathy
- Cor triatriatum
- Cor triatriatum dexter
- Cor triatriatum dextrum
- Cor triatriatum sinister
- Cor triatriatum sinistrum
- Coralliform cataract
- Cori disease
- Cori-Forbes disease
- Corneal anesthesia-deafness-intellectual disability syndrome
- Corneal anesthesia-hearing loss-intellectual disability syndrome
- Corneal dystrophy
- Corneal dystrophy epithelial-short stature syndrome
- Corneal dystrophy Groenouw type I
- Corneal dystrophy Groenouw type II
- Corneal dystrophy of Bowman layer type 1
- Corneal dystrophy of Bowman layer type 2
- Corneal dystrophy of Bowman layer type I
- Corneal dystrophy of Bowman layer type II
- Corneal dystrophy with progressive deafness
- Corneal dystrophy with progressive hearing loss
- Corneal dystrophy-perceptive deafness syndrome
- Corneal dystrophy-perceptive hearing loss syndrome
- Corneal endotheliitis
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- Cornelia de Lange syndrome
- Corneodermatoosseous syndrome
- Corneodysgenesis
- Corneogoniodysgenesis
- Coronary arterial fistula
- Coronary artery congenital malformation
- Coronary ostial stenosis or atresia
- Coronary sinus atresia
- Coronary sinus stenosis
- Corpus callosum agenesis-abnormal genitalia syndrome
- Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
- Corpus callosum agenesis-cataract-immunodeficiency syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- Corpus callosum agenesis-neuronopathy syndrome
- Corpus callosum agenesis-polysyndactyly syndrome
- Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
- CORS
- Cortical blindness-intellectual disability-polydactyly syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Cortical dysplasia, Taylor type
- Cortical dysplasia-focal epilepsy syndrome
- Cortical hyperostosis-syndactyly syndrome
- Cortical visual impairment
- Corticobasal syndrome
- Corticosteroid-binding globulin deficiency
- Corticosteroid-sensitive aseptic abscess syndrome
- Corticotroph pituitary adenoma
- Corticotropin-dependent Cushing syndrome
- COS
- COSA
- Cosack syndrome
- Costeff optic atrophy syndrome
- Costeff syndrome
- Costello syndrome
- Costovertebral segmentation defect-mesomelia syndrome
- Cousin syndrome
- COVESDEM syndrome
- Cow's milk hypersensitivity
- Cowchock syndrome
- Cowden disease
- Cowden syndrome
- COX deficiency, French-Canadian type
- Coxiellosis
- Coxoauricular syndrome
- Coxopodopatellar syndrome
- COXPD
- COXPD10
- COXPD11
- COXPD12
- COXPD13
- COXPD14
- COXPD15
- COXPD16
- COXPD17
- COXPD2
- COXPD20
- COXPD21
- COXPD23
- COXPD24
- COXPD25
- COXPD26
- COXPD27
- COXPD28
- COXPD29
- COXPD30
- COXPD39
- COXPD4
- COXPD5
- COXPD7
- COXPD8
- COXPD9
- CPAI
- CPAM
- CPAM type 0
- CPAM type 1
- CPAM type 2
- CPAM type 3
- CPAM type 4
- CPD IV
- CPE-related Prader-Willi-like syndrome
- CPFD
- CPFE
- CPI
- CPLS syndrome
- CPP
- CPP in boy
- CPP in male
- CPS1 deficiency
- CPS1D
- CPT1A deficiency
- CPT2
- CPT2, adult-onset form
- CPT2, hepatocardiomuscular form
- CPT2, lethal systemic form
- CPT2, myopathic form
- CPT2, neonatal form
- CPT2, severe infantile form
- CPTII
- CPTII, adult-onset form
- CPTII, hepatocardiomuscular form
- CPTII, lethal systemic form
- CPTII, myopathic form
- CPTII, neonatal form
- CPTII, severe infantile form
- CPVA
- CPVT
- CPXD
- Cramp-fasciculation syndrome
- Crandall syndrome
- Crane-Heise syndrome
- Cranial dural arteriovenous fistula
- Cranial dural arteriovenous malformations
- Cranial malformation
- Cranial meningocele
- Cranial nerve and nuclear aplasia
- Cranial neuralgia
- Cranial variant of GBS
- Cranial variant of Guillain-Barré syndrome
- Cranio-cervical dystonia with laryngeal and upper-limb involvement
- Cranio-facio-digito-genital syndrome
- Cranio-osteoarthropathy
- Craniocarpotarsal dysplasia
- Craniocarpotarsal dystrophy
- Craniocerebellocardiac dysplasia
- Craniodiaphyseal dysplasia
- Craniodigital-intellectual disability syndrome
- Cranioectodermal dysplasia
- Craniofacial anomaly with cataract
- Craniofacial cleft
- Craniofacial conodysplasia
- Craniofacial duplication
- Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- Craniofacial-deafness-hand syndrome
- Craniofacial-hearing loss-hand syndrome
- Craniofacial-ulnar-renal syndrome
- Craniofaciofrontodigital syndrome
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia with alopecia and hypogonadism
- Craniofrontonasal dysplasia-Poland anomaly syndrome
- Craniofrontonasal syndrome
- Craniolenticulosutural dysplasia
- Craniometadiaphyseal dysplasia, wormian bone type
- Craniometaphyseal dysplasia
- Craniomicromelic syndrome
- Craniopharyngioma
- Craniorachischisis
- Craniorhiny
- Craniostenosis with strabismus
- Craniosynostosis
- Craniosynostosis, Boston type
- Craniosynostosis, Herrmann-Opitz type
- Craniosynostosis, Philadelphia type
- Craniosynostosis, Warman type
- Craniosynostosis-alopecia-brain defect syndrome
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Craniosynostosis-congenital heart disease-intellectual disability syndrome
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- Craniosynostosis-dental anomalies
- Craniosynostosis-facial dysmorphism-brachydactyly syndrome
- Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Craniosynostosis-intracranial calcifications syndrome
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome
- Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
- Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
- Craniotelencephalic dysplasia
- Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
- CRAO
- CRAPB
- CRASH syndrome
- CRBM
- CRD
- Creatine deficiency syndrome
- Creatine transporter deficiency
- Cree leukoencephalopathy
- Creeping myiasis
- Cri du chat syndrome
- CRIE
- Crigler-Najjar syndrome
- Crigler-Najjar syndrome type 1
- Crigler-Najjar syndrome type 2
- Crimean hemorrhagic fever
- Crimean-Congo hemorrhagic fever
- CRION
- Crisponi syndrome
- Criss-cross atrioventricular relationships
- Criss-cross heart
- Criswick-Schepens syndrome
- CRMCC
- Crome syndrome
- Cronkhite-Canada syndrome
- Cross syndrome
- Crossed polysyndactyly
- Crotonase deficiency
- Croupous bronchitis
- Crouzon craniofacial dysostosis
- Crouzon syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Crouzon-dermoskeletal syndrome
- Crow-Fukase syndrome
- CRS
- CRVO
- CRYAB-related myofobrillar myopathy
- Cryoglobulinemia type 1
- Cryoglobulinemic vasculitis
- Cryopyrin associated periodic syndrome
- Cryopyrinopathy
- Cryptococcosis
- Cryptogenic late-onset epileptic spasms
- Cryptogenic multifocal ulcerous stenosing enteritis
- Cryptogenic organizing pneumonia
- Cryptomicrotia-brachydactyly syndrome
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- Cryptophthalmia
- Cryptophthalmos-syndactyly syndrome
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Crystalline stromal dystrophy
- CS due to BMACD
- CS due to BMAD
- CS due to cortisol-producing adrenocortical adenoma
- CSCD
- CSCR
- CSF
- CSID
- CSS
- CST3-related amyloidosis
- CSVT
- CSWS
- CSWSS syndrome
- CTCF-related neurodevelopmental disorder
- CTD-ILD
- CTEPH
- CTLA-4 haploinsufficiency with autoimmune infiltration disease
- CTLN1
- CTLN2
- CTNNB1 syndrome
- CTX
- CUD
- Culler-Jones syndrome
- Cumming syndrome
- CUP
- Curatolo-Cilio-Pessagno syndrome
- Curly fiber corneal dystrophy
- Curly hair-acral keratoderma-caries syndrome
- Curly hair-ankyloblepharon-nail dysplasia syndrome
- Currarino disease
- Currarino idiopathic osteoarthropathy
- Currarino syndrome
- Currarino triad
- Current pressure-sensitive neuropathy
- Curry-Hall syndrome
- Curry-Jones syndrome
- Cushing disease
- Cushing syndrome due to bilateral macronodular adrenocortical disease
- Cushing syndrome due to BMACD
- Cushing syndrome due to BMAD
- Cushing syndrome due to cortisol-producing adrenocortical adenoma
- Cushing syndrome due to ectopic ACTH secretion
- Cushing syndrome due to macronodular adrenal hyperplasia
- Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
- Cutaneo-muco-intestinal syndrome
- Cutaneomeningospinal angiomatosis
- Cutaneous and mucosal venous malformation
- Cutaneous collagenous vasculopathy
- Cutaneous hemangioma with muscle or bone atrophy
- Cutaneous hypersensitivity vasculitis
- Cutaneous infectious botulism
- Cutaneous larva migrans
- Cutaneous local mastocytoma
- Cutaneous lymphangioma circumscriptum
- Cutaneous mastocytoma
- Cutaneous mastocytosis
- Cutaneous mucinosis of infancy
- Cutaneous myiasis
- Cutaneous neuroendocrine carcinoma
- Cutaneous PAN
- Cutaneous periarteritis nodosa
- Cutaneous photosensitivity-lethal colitis syndrome
- Cutaneous polyarteritis nodosa
- Cutaneous pseudolymphoma
- Cutaneous reactive dermatoses
- Cutaneous small vessel vasculitis
- Cutaneous toxin-mediated botulism
- Cutaneovisceral angiomatosis-thrombocytopenia syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Cutis hyperelastica
- Cutis laxa
- Cutis laxa acquisita
- Cutis laxa with joint laxity and developmental delay
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- Cutis laxa-corneal clouding-intellectual disability syndrome
- Cutis laxa-leukodystrophy
- Cutis laxa-Marfanoid syndrome
- Cutis marmorata telangiectatica congenita
- Cutler-Bass-Romshe syndrome
- cvEDS
- CVIC
- CVID
- Cyanide poisoning
- Cyanide-induced parkinsonism-dystonia
- Cyclic neutropenia
- Cyclosporiasis
- Cyclosporine-induced folliculodystrophy
- CYLD cutaneous syndrome
- Cylindrical spirals myopathy
- CYP11B1 deficiency
- Cyprus facial-neuromusculoskeletal syndrome
- Cystadenoma of childhood
- Cystadenoma of ovary in childhood
- Cystathionase deficiency
- Cystathionine beta-synthase deficiency
- Cystathionine beta-synthase-deficient homocystinuria
- Cystathionine gamma-lyase deficiency syndrome
- Cystathioninuria
- Cystatin amyloidosis
- Cystic echinococcosis
- Cystic epithelial-stromal tumors of the prostate
- Cystic fibrosis
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- Cystic hamartoma of lung and kidney
- Cystic leukoencephalopathy without megalencephaly
- Cystic medial necrosis of aorta
- Cysticercosis
- Cystinosis
- Cystinuria
- Cystinuria type A
- Cystinuria type B
- Cystinuria-lysinuria syndrome
- Cystoid macular dystrophy
- Cystoisosporiasis
- Cystosarcoma phyllodes of the prostate
- Cysts and fistulae of the face and oral cavity
- Cytochrome C oxidase deficiency, French-Canadian type
- Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
- Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
- Cytophagic histiocytic panniculitis
- Cytosolic methyl group transfer or sulfur amino acid metabolism disorder
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
- Czech dysplasia, metatarsal type
- Czeizel syndrome
- Czeizel-Brooser syndrome
- Czeizel-Losonci syndrome
- Céroïde lipofuscinose neuronale de type 5