List of Rare Diseases

C

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy
C12ORF65-related combined oxidative phosphorylation defect
C12ORF65-related COXPD
C1 inhibitor deficiency
C3 deficiency
C3 glomerulonephritis
C3 glomerulopathy
C9ORF72-related Huntington disease-like syndrome
C9ORF72-related Huntington disease phenocopy
Cabezas syndrome
CABV syndrome
Cacchi-Ricci disease
CACD
CACH syndrome
CACP syndrome
CACT deficiency
CAD
CADASIL
CAD-CDG
CADDS
CADP
CAEBV syndrome
Caffey disease
CAGSSS
CAH
cAHA
CAH due to 11-beta-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAHMR syndrome
CAID syndrome
cAIHA
CAIS
CAKUT
Calcification of joints and arteries
Calcified epithelial carcinoma of Malherbe
Calcifying aponeurotic fibroma
Calcifying epitheliocarcinoma
Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome
Calciphylaxis
Calciphylaxis cutis
Calcium pyrophosphate dihydrate crystal deposition disease
Calderón-González-Cantu syndrome
California disease
Californian encephalitis
CALJA
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-arthropathy-coxa-vara-pericarditis syndrome
Camptodactyly-cleft palate-clubfoot syndrome
Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome
Camptodactyly-joint contractures-facial skeletal defects syndrome
Camptodactyly of fingers
Camptodactyly-overgrowth-unusual facies syndrome
Camptodactyly syndrome, Guadalajara type 1
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Guadalajara type 3
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-associated retinopathy
Cancer diagnosed during pregnancy
Cancer of fallopian tubes
Cancer of penis
Cancrum oris
CANDA syndrome
CANDLE syndrome
CANOMAD syndrome
Cantalamessa-Baldini-Ambrosi syndrome
Cantrell deformity
Cantrell syndrome
Cantu craniofaciofrontodigital syndrome
CANVAS
Capdepont teeth
Cap disease
CAPED
CAPE dystrophy
Capillary hyperpermeability syndrome
Capillary leak syndrome
Capillary lymphangioma
Capillary lymphatic malformation
Capillary malformation-arteriovenous malformation
Cap inflammatory polyposis
Cap myopathy
CAPOS syndrome
Cap polyposis
Capra-DeMarco syndrome
CAPS
CAPS
CAP syndrome
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 IIa
Carbohydrate deficient glycoprotein syndrome type IIb
Carbohydrate deficient glycoprotein syndrome type IId
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
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 stomach, salivary gland type
Carcinoma of the ampulla of Vater
Carcinoma of the anal canal
Carcinoma of vulva
Carcinosarcoma of the cervix uteri
Carcinosarcoma of the corpus uteri
Cardiac anomalies-heterotaxy syndrome
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
Cardiac diverticulum
Cardiac tumor of child
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
Cardiomyopathy-renal anomalies syndrome
Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
Cardiomyopathy with myopathy due to COX deficiency
Cardioskeletal myopathy-neutropenia syndrome
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Cardiospondylocarpofacial syndrome
Cardiovascular Gaucher disease
Carey-Fineman-Ziter syndrome
Caribbean parkinsonism
CARKD deficiency
Carmi syndrome
Carnevale-Hernández-del Castillo syndrome
Carney complex
Carney complex-trismus-pseudocamptodactyly syndrome
Carney complex variant
Carney dyad
Carney-Stratakis dyad
Carney-Stratakis syndrome
Carney syndrome
Carney triad
Carnitine-acylcarnitine translocase deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase deficiency type 2
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 palmitoyltransferase II 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 transporter defect
Carnitine uptake deficiency
Carnosinase deficiency
Caroli disease
Caroli syndrome
Carpenter syndrome
Carpenter-Waziri syndrome
Carpotarsal osteochondromatosis
Carrion disease
CAR syndrome
CAR T cell therapy-associated CRS
CAR T cell therapy-associated cytokine release syndrome
Cartilage-hair hypoplasia
Carvajal syndrome
CAS
CAS
Casamassima-Morton-Nance syndrome
Caspase 8 deficiency syndrome
Cassia Stocco dos Santos syndrome
Castleman disease
Castro Gago-Pombo-Novo syndrome
Catalase deficiency
Cataract-aberrant oral frenula-growth delay syndrome
Cataract-alopecia-sclerodactyly syndrome
Cataract-ataxia-deafness syndrome
Cataract-congenital heart disease-neural tube defect syndrome
Cataract-deafness-hypogonadism syndrome
Cataract-glaucoma syndrome
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia 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
Catecholamine-producing tumor
Catecholaminergic polymorphic ventricular tachycardia
Catel-Hempel syndrome
Catel-Manzke syndrome
Cat-eye syndrome
Cathepsin D deficiency
Catlin marks
Cat-scratch disease
CATSHL syndrome
Caudal appendage-deafness syndrome
Caudal duplication
Caudal dysplasia
Caudal regression sequence
Caudal regression-sirenomelia spectrum
Causalgia
CA-VA deficiency
CAVC
CAVC-Fallot tetralogy syndrome
CAVC-left heart obstruction syndrome
CAVC-ventricle hypoplasia syndrome
Caveolinopathy
Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
Cavernous lymphangioma
Cavernous lymphatic malformation
Cavitary myiasis
Cayler cardiofacial syndrome
Cayman ataxia
CBE
C-beta-thalassemia
CblC defect
CblD defect
CblF defect
CblJ defects
CBL syndrome
CCA
CCAM
CCAM type 1
CCAM type 2
CCAM type 3
CCA syndrome
CCDC115-CDG
CCDF
CCDS
CCFDN
CCGE syndrome
CCHF
CCHS
CCMCO
CCRCC
CCSF
CCSK
CCV
CD16 deficiency
CD27 deficiency
CD30 positive anaplastic large cell lymphoma
CD4+/CD56+ hematodermic neoplasm
CDA
CDA due to KLF1 mutation
CDAGS syndrome
CDA I
CDA II
CDA III
CDA IV
CDAN4
CDA type 1
CDA type 2
CDA type 3
CDA type 4
CDA type I
CDA type II
CDA type III
CDA type IV
CDC
CDFES
CDFE syndrome
CDG
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
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
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 hepatic involvement
CDG with intestinal involvement
CDG with nephropathy as a major feature
CDG with neurological involvement
CDG with skin involvement
CDH
CDHS
CDI
CDKL5 deficiency disorder
CDKL5-related epileptic encephalopathy
CDO syndrome
CDP
CDPD
CDPX2
CDPXD
CDS
CDSP
CEAS
CEC
Cecato de Lima-Pinheiro syndrome
CED
CEDNIK syndrome
cEDS
CEDS
Celiac artery compression syndrome
Celiac disease-epilepsy-cerebral calcification syndrome
Cenani-Lenz syndactyly
Cenani-Lenz syndrome
Cenani syndactyly
Central areolar choroidal dystrophy
Central areolar choroidal sclerosis
Central areolar pigment epithelial dystrophy
Central bilateral macrogyria
Central cloudy corneal dystrophy of François
Central cloudy dystrophy of François
Central congenital hypothyroidism
Central congenital hypoventilation syndrome
Central core disease
Central diabetes insipidus
Central hypothyroidism due to TRH receptor deficiency
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Central nervous system cystic malformation
Central nervous system malformation
Central nervous system PNET
Central nervous system primitive neuroectodermal tumor
Central neurocytoma
Central neurofibromatosis
Central polydactyly
Central precocious puberty
Central retinal pigment epithelial dystrophy
Central retinal vein occlusion
Central serous chorioretinopathy
Centrifugal lipodystrophy
Centripetal dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa
Centripetal recessive dystrophic epidermolysis bullosa
Centronuclear myopathy
Centronuclear myopathy type 4
Centrotemporal epilepsy
CEP
Cephalocele
Cephalothoracic lipodystrophy
CEPT deficiency
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia, Cayman type
Cerebellar ataxia-ectodermal dysplasia syndrome
Cerebellar ataxia-hypogonadism syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
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 atrophy with progressive microcephaly
Cerebellar-facial-dental 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
Cerebellofaciodental syndrome
Cerebellooculorenal syndrome
Cerebelloparenchymal disorder IV
Cerebellotrigeminal-dermal dysplasia syndrome
Cerebral arteriovenous malformation
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral cortical dysplasia
Cerebral creatine deficiency syndrome
Cerebral diseases of vascular origin with epilepsy
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Cerebral gigantism
Cerebral juvenile and adult form of Gaucher disease
Cerebral lipidosis with dementia
Cerebral malformation
Cerebral malformation with epilepsy
Cerebral organic aciduria
Cerebral proliferative glomeruloid vasculopathy
Cerebral sinovenous thrombosis
Cerebral visual impairment
Cerebrocostomandibular syndrome
Cerebro-cutaneous syndrome with iron overload
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
Cerebromedullospinal disconnection
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 papillary carcinoma
Cervical peripheral neuroectodermal cancer
Cervical rhabdomyosarcoma
Cervical sarcoma
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervical squamous cell carcinoma
Cervicofacial fibrochondroma
Cervicooculoacoustic syndrome
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
CES
CEVD
CF
CFA
CFC syndrome
CFND
CFNS
CFTDM
CGD
CGHT
ChAc
CHACS
CHAC syndrome
Chagas disease
CHAI
Chandler syndrome
CHANDS
CHAND syndrome
Chang-Davidson-Carlson syndrome
Channelopathy-associated CIP
Channelopathy-associated congenital insensitivity to pain
Channelopathy with epilepsy
Chaotic atrial tachycardia
Chapare hemorrhagic fever
Charcot disease
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Charcot-Marie-Tooth disease-deafness syndrome
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Charcot-Marie-Tooth disease-nephropathy syndrome
Charcot-Marie-Tooth disease-pyramidal features syndrome
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 hereditary neuropathy
Charcot-Marie-Tooth neuropathy type 1
Char-Douglas-Dungan syndrome
CHARGE association
CHARGE-like syndrome
CHARGE syndrome
Charlevoix disease
Charlie M syndrome
Char syndrome
cHCC-CC
CHC type 2
CHED1
CHED2
CHEDI
Chédiak-Higashi disease
Chédiak-Higashi-like syndrome
Chédiak-Higashi-Steinbrink syndrome
Chédiak-Higashi syndrome
CHEDII
Cheilitis glandularis
Cheirospondyloenchondromatosis
Cheney syndrome
Cherry-red spot-myoclonus syndrome
Cherubism
Cherubism-gingival fibromatosis-intellectual disability syndrome
CHI
Chiari malformation type 1
Chiari malformation type 2
Chiari malformation type I
Chiari malformation type II
Chikungunya
Chilblain lupus
Childhood absence epilepsy
Childhood AIS
Childhood apraxia of speech
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 nemaline myopathy
Childhood-onset phosphoethanolaminuria
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Childhood-onset Rathburn disease
Childhood-onset spasticity with hyperglycinemia
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
CHILD nevus
CHILD syndrome
Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome
CHIME syndrome
Chitayat-Meunier-Hodgkinson syndrome
Chitty-Hall-Baraitser syndrome
Chloride shunt syndrome
Chloroma
CHM
Choanal atresia
Choanal atresia, bilateral
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Choanal atresia, unilateral
Cholangiocarcinoma
Choledochal cyst
Cholera
Cholestasis-lymphedema syndrome
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Cholesterol ester storage disease
Cholesterol-ester transfer protein deficiency
Cholesteryl ester storage disease
Chondrodysplasia, Blomstrand type
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Chondrodysplasia-disorder of sex development syndrome
Chondrodysplasia, Grebe type
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
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
Choroidal atrophy-alopecia syndrome
Choroidal melanoma
Choroideremia
Choroiditis
Choroid plexus carcinoma
Choroid plexus papilloma
Choroid plexus tumor
CHP
Christianson-Fourie syndrome
Christianson syndrome
Christian syndrome
Christmas disease
Christ-Siemens-Touraine syndrome
Chromoblastomycosis
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 18 duplication
Chromosome 21 en anneau
Chromosome X structural anomaly
Chromosome Y structural anomaly
Chronic acquired demyelinating polyneuropathy
Chronic actinic dermatitis
Chronic adrenocorticoid insufficiency
Chronic adult hydrocephalus
Chronic and localized Langerhans cell histiocytosis
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 atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Chronic autoimmune hepatitis
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 hepatic porphyria
Chronic hiccup
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Chronic infantile neurological cutaneous articular syndrome
Chronic infantile spinal muscular atrophy
Chronic inflammatory demyelinating polyneuropathy
Chronic inflammatory demyelinating polyradiculoneuropathy
Chronic intestinal failure
Chronic intestinal pseudoobstruction
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
Chronic lymphoproliferative disorder of natural killer cells
Chronic lymphoproliferative disorder of NK-cells
Chronic mucocutaneous candidiasis
Chronic multifocal Langerhans cell histiocytosis
Chronic myelogenous leukemia
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Chronic myeloproliferative disease, unclassifiable
Chronic neuronopathic Gaucher disease
Chronic neutrophilic leukemia
Chronic NK-cell lymphocytosis
Chronic NK lymphocytosis
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Chronic obstetric brachial plexus injury
Chronic obstetric brachial plexus palsy
Chronic pain requiring intraspinal analgesia
Chronic photosensitivity dermatitis
Chronic pneumonitis of infancy
Chronic polyradiculoneuropathy
Chronic primary adrenal insufficiency
Chronic recurrent isolated optic neuritis
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
Chronic relapsing inflammatory optic neuropathy
Chronic respiratory distress with surfactant metabolism deficiency
Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies
Chronic septic granulomatosis
Chronic spinal muscular atrophy
Chronic thromboembolic pulmonary hypertension
Chronic traumatic encephalopathy
Chronic urticaria with gammopathy
Chronic urticaria with macroglobulinemia
CHR-RPE
CHST3-related skeletal dysplasia
Chudley-Lowry-Hoar syndrome
Chudley-Lowry syndrome
Chudley-McCullough syndrome
Chudley-Rozdilsky syndrome
Churg-Strauss syndrome
Chuvash erythrocytosis
Chuvash polycythemia
Chylomicron retention disease
Chylous ascites
Cicatricial pemphigoid
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 STIM1 deficiency
CID due to STK4 deficiency
CID due to TFRC deficiency
CIDEC-related familial partial lipodystrophy
CIDEC-related FPLD
CID-MIA/early-onset IBD
CIDP
CID with expansion of gamma delta T cells
CIE
CIF
Ciliary dysentery
Ciliopathies with major skeletal involvement
Ciliopathy
Cilliers-Beighton syndrome
CINCA syndrome
CIP-anhidrosis syndrome
CIPO
CIP with hyperhidrosis and gastrointestinal dysfunction
Circumferential skin creases, Kunze type
Circumscribed palmoplantar hypokeratosis
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Cirrhotic cardiomyopathy
Cisplatin toxicity
CISS
Citric acid cycle disorder
Citrin deficiency
Citrullinemia
Citrullinemia type 1
Citrullinemia type 2
Citrullinemia type I
Citrullinemia type II
CK syndrome
CLAH
CLAM
CLAPO syndrome
Clarkson disease
Classic 21-OHD CAH
Classic 21-OHD CAH, salt wasting form
Classic 21-OHD CAH, simple virilizing form
Classic Addison’s disease
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
Classic appendiceal neuroendocrine tumor
Classic appendix neuroendocrine tumor
Classic Bartter syndrome
Classic BCKD deficiency
Classic branched-chain alpha-ketoacid dehydrogenase deficiency
Classic branched-chain ketoaciduria
Classic citrullinemia
Classic citrullinemia type 1
Classic citrullinemia type I
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 ependymoma
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 homocystinuria
Classic Joubert syndrome
Classic lamellar ichthyosis
Classic lattice corneal dystrophy
Classic lissencephaly
Classic maple syrup urine disease
Classic mast cell leukemia
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 paraneoplastic limbic encephalitis
Classic paraneoplastic limbic encephalitis, with or without intracellular antigens
Classic Pfeiffer syndrome
Classic phenylketonuria
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
Class I G6PD deficiency
Class I glucose-6-phosphate dehydrogenase deficiency
Clayton Smith-Donnai syndrome
CLCN4-related X-linked intellectual disability 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
Clefting-ectropion-conical teeth syndrome
Cleft lip-alveolus-palate syndrome
Cleft lip and alveolus
Cleft lip and palate
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Cleft lip-cone rod dystrophy syndrome
Cleft lip-limb and heart malformations syndrome
Cleft lip/palate
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Cleft lip/palate-syndactyly-pili torti syndrome
Cleft lip/palate with mucous cysts of lower lip
Cleft lip-progressive retinopathy syndrome
Cleft lip-retinopathy syndrome
Cleft lip with or without cleft palate
Cleft mitral valve
Cleft nose
Cleft palate
Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
Cleft palate-coloboma-deafness syndrome
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
Cleidocranial dysostosis
Cleidocranial dysplasia
Cleidocranial dysplasia and isolated cranial ossification defect
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Cleidorhizomelic syndrome
CLEPD
C-like syndrome
Climatic droplet keratopathy
CLIPPERS
CLN10 disease
CLN11 disease
CLN12 disease
CLN13 disease
CLN14 disease
CLN1 disease
CLN2 disease
CLN3 disease
CLN4A disease
CLN4B disease
CLN5 disease
CLN6 disease
CLN7 disease
CLN8 disease
CLN8 disease, Northern epilepsy variant
CLN9 disease
Cloacal exstrophy
Clonal hypereosinophilic syndrome
Closed iniencephaly
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
CMAMMA
CM-AVM
CMC
CMD
CMD1A
CMD1B
CMD-CRB
CMD due to dystroglycanopathy
CMDH
CMD-MR
CMD-no MR
CMD with cerebellar involvement
CMD with intellectual disability
CMD with intellectual disability and severe epilepsy
CMD without intellectual disability
CML
CMML
CMMR-D syndrome
CMPD-U
CMP-sialic acid transporter deficiency
CMRD
CMS
CMT1
CMT1A
CMT1B
CMT1C
CMT1D
CMT1E
CMT1F
CMT1X
CMT2
CMT2A1
CMT2A2
CMT2B
CMT2C
CMT2D
CMT2DD
CMT2 due to DGAT2 mutation
CMT2 due to KIF5A mutation
CMT2 due to TFG mutation
CMT2 due to VCP mutation
CMT2E
CMT2F
CMT2G
CMT2H
CMT2I
CMT2J
CMT2K
CMT2L
CMT2M
CMT2N
CMT2O
CMT2P
CMT2Q
CMT2R
CMT2S
CMT2T
CMT2U
CMT2V
CMT2W
CMT2 with giant axons
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
CMT/HMSN
CMTX
CMTX1
CMTX2
CMTX3
CMTX4
CMTX5
CMTX6
CMUSE
CMV disease in patients with impaired cell mediated immunity deemed at risk
CNKL
CNM
CNM4
CNO/CRMO
CNS PNET
COACH syndrome
Coarctation of the abdominal aorta
COASY protein-associated neurodegeneration
Coats disease
Coats plus syndrome
Cobalamin C defect
Cobalamin D defect
Cobalamin F defect
Cobalamin J defect
Cobblestone lissencephaly
Cobblestone lissencephaly without muscular or eye involvement
Cobblestone lissencephaly without muscular or ocular involvement
Cobb syndrome
Cocaine embryofetopathy
Cocaine intoxication
Coccidioides infection
Coccidioidomycosis
Cochlear nerve deficiency
Cochleosaccular degeneration-cataract syndrome
Cochleovestibular dysplasia
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
CODAS syndrome
Codeine toxicity
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-Reese syndrome
Cogan syndrome
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Cohen-Hayden syndrome
Cohen syndrome
COIF
COIF syndrome
COL4A1 or COL4A2-related cerebral angiopathy
COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy
COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy
COL4A1 or COL4A2-related cerebral small vessel disease
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
COL4A1-related brain small vessel disease with hemorrhage
COL4A1-related familial vascular leukoencephalopathy
COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
Colchicine poisoning
Cold agglutinin disease
Cold agglutinin syndrome
Cold AIHA
Cold-induced sweating syndrome
Cold-induced sweating syndrome-hyperthermia spectrum
Cole-Carpenter syndrome
Cole disease
Collagenofibrotic glomerulopathy
Collagen-related glomerular basement membrane disease
Collagen type III glomerulopathy
Collecting duct carcinoma
Collins-Pope syndrome
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 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
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 atresia
Colonic NET
Colorado tick-borne disease
Colorado tick encephalitis
Colorado tick fever
Color blindness, blue monocone monochromatic type
Colorectal adenomatous polyposis
Colorectal adenomatous polyposis due to monosomy 5q22.2
Color-vision disease
Combined 17-hydroxylase/17,20-lyase deficiency
Combined alpha-delta platelet storage pool deficiency
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 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 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 CD27 deficiency
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CRAC channel dysfunction
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
Combined immunodeficiency due to DOCK8 deficiency
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 STIM1 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to TFRC deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency-enteropathy spectrum
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
Combined immunodeficiency with childhood-onset Kaposi sarcoma
Combined immunodeficiency with expansion of gamma delta T cells
Combined immunodeficiency with faciooculoskeletal 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 with susceptibility to mycobacterial, viral and fungal infections
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 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
Comèl-Netherton syndrome
Commissural facial cleft
Commissural lip fistula
Common aorticopulmonary trunk
Common arterial trunk
Common atrioventricular canal
Common cystic lymphatic malformation
Common mesentery
Common variable immunodeficiency
Communicating congenital bronchopulmonary-foregut malformation
Complement component 3 deficiency
Complete androgen insensitivity syndrome
Complete androgen resistance syndrome
Complete atrioventricular canal
Complete atrioventricular canal-left heart obstruction syndrome
Complete atrioventricular canal-tetralogy of Fallot syndrome
Complete atrioventricular canal-ventricle hypoplasia syndrome
Complete atrioventricular septal defect
Complete cryptophthalmia
Complete deficiency of methylmalonyl-CoA mutase
Complete factor I deficiency
Complete growth hormone insensitivity
Complete hemimelia
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 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
Composite hemangioendothelioma
Composite Hodgkin and non-Hodgkin lymphoma
Composite lymphoma
Concentric demyelination
Conductive deafness-malformed external ear syndrome
Conductive deafness-ptosis-skeletal anomalies syndrome
Conductive deafness with stapes fixation
Conductive hearing loss-malformed external ear 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
Confetti-like macular atrophy
Congenital abducens nerve palsy
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Congenital absence/hypoplasia of thumb
Congenital absence of both forearm and hand
Congenital absence of both lower leg and foot
Congenital absence of fingerprints
Congenital absence of foot
Congenital absence of hand
Congenital absence of humerus
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 thigh and lower leg with foot present
Congenital absence of tibia
Congenital absence of ulna and fibula
Congenital absence of upper arm and forearm with hand present
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 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 and infantile nephrotic syndrome
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 insufficiency
Congenital aortic valve stenosis
Congenital aortopulmonary artery fistula
Congenital aortopulmonary septal defect
Congenital aortopulmonary window
Congenital aplasia and dysplasia of the tibia with intact fibula
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 atransferrinemia
Congenital atrioventricular block
Congenital auditory ossicle malformation without external ear abnormality
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 bowing of long bones
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital bronchopulmonary sequestration
Congenital bullous poikiloderma
Congenital cataract-deafness-severe developmental delay syndrome
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Congenital cataract microcornea with corneal opacity
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-Hirschsprung disease syndrome
Congenital central alveolar 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 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 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-related bone disorder
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 2a
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
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 IIa
Congenital disorder of glycosylation type IIb
Congenital disorder of glycosylation type IId
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
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 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 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 diverticulum
Congenital esophageal pouch
Congenital essential nyctalopia
Congenital estrogen deficiency
Congenital extrapulmonary sequestration
Congenital eyelid retraction
Congenital facial diplegia
Congenital factor II deficiency
Congenital factor V deficiency
Congenital factor VII 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 fused cervical segments
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital generalized hypertrichosis, Ambras type
Congenital generalized hypertrichosis, Macias-Flores type
Congenital generalized hypertrichosis terminalis
Congenital genu flexum
Congenital genu recurvatum
Congenital Gerbode defect
Congenital gingival cell tumor
Congenital glaucoma
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 nevus and limbs defects
Congenital hereditary endothelial dystrophy type 1
Congenital hereditary endothelial dystrophy type 2
Congenital hereditary endothelial dystrophy type I
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-variable deafness syndrome
Congenital hereditary facial paralysis-variable hearing loss syndrome
Congenital hereditary facial paralysis with variable deafness
Congenital hereditary stromal dystrophy
Congenital herpes simplex virus infection
Congenital high-molecular-weight kininogen deficiency
Congenital Horner syndrome
Congenital hydrocephalus
Congenital hydronephrosis
Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism with anosmia
Congenital hypopituitarism
Congenital hypoplasia of humerus
Congenital hypoplastic anemia, Blackfan-Diamond type
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 ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
Congenital ichthyosis-microcephalus-quadriplegia syndrome
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Congenital ichthyosis type 4
Congenital IGHD
Congenital IGHD type IA
Congenital IGHD type IB
Congenital IGHD type II
Congenital IGHD type III
Congenital ILNEB syndrome
Congenital indifference to pain with hyperhidrosis
Congenital insensitivity to pain and thermal analgesia
Congenital insensitivity to pain-anhidrosis syndrome
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 interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
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 lamellar ichthyosis
Congenital Langerhans cell histiocytosis
Congenital laryngeal cyst
Congenital laryngeal palsy
Congenital laryngeal web
Congenital laryngomalacia
Congenital lethal erythroderma
Congenital lethal myopathy, Compton-North type
Congenital limb malformation
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 longitudinal deficiency of the fibula
Congenital longitudinal deficiency of the radius
Congenital longitudinal deficiency of the tibia
Congenital longitudinal deficiency of the ulna
Congenital long QT syndrome
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
Congenital macroglossia
Congenital major airway collapse
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Congenital malformation of the eyelid
Congenital malformation of the eye with glaucoma as a major feature
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 miosis
Congenital mitral malformation
Congenital mitral stenosis
Congenital mitral valve insufficiency and/or stenosis
Congenital multicore myopathy with external ophthalmoplegia
Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Congenital muscular dystrophy
Congenital muscular dystrophy, Davignon-Chauveau type
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-dystroglycanopathy without intellectual disability
Congenital muscular dystrophy, Fukuyama type
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy type 1B
Congenital muscular dystrophy, Ullrich type
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 myasthenic syndrome
Congenital myasthenic syndromes with glycosylation defect
Congenital myopathy
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
Congenital myopathy, Paradas type
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 myosclerosis, Löwenthal type
Congenital myotonia
Congenital NAD deficiency disorder
Congenital narrowing of cervical spinal canal
Congenital NCL
Congenital nemaline myopathy
Congenital nephrosis-cerebral ventriculomegaly syndrome
Congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome
Congenital nephrotic syndrome, Finnish type
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Congenital NEP syndrome
Congenital neuronal ceroid lipofuscinosis
Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital non-bullous ichthyosiform erythroderma
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 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
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 limbs
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 valve 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 radioulnar synostosis
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 short femur
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 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 sucrase-isomaltase deficiency with minimal starch tolerance
Congenital sucrase-isomaltase deficiency without starch intolerance
Congenital sucrase-isomaltase deficiency without sucrose intolerance
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Congenital sucrase-isomaltase deficiency with starch intolerance
Congenital sucrase-isomaltose malabsorption
Congenital sucrase-isomaltose malabsorption with minimal starch tolerance
Congenital sucrase-isomaltose malabsorption without starch intolerance
Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance
Congenital sucrase-isomaltose malabsorption with starch intolerance
Congenital sucrose intolerance
Congenital sucrose intolerance with minimal starch tolerance
Congenital sucrose intolerance without starch intolerance
Congenital sucrose intolerance with starch and lactose intolerance
Congenital sucrose intolerance with starch intolerance
Congenital sucrose-isomaltose malabsorption without 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 unilateral pulmonary hypoplasia
Congenital urachal anomaly
Congenital valvular dysplasia
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
Congo fever
Congo hemorrhagic fever
Congo red-negative amyloidosis-like glomerulopathy
Conjunctivitis lignosa
Connatal PMD
Connective tissue disorder due to LH3 deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Conorenal syndrome
Cono-spondylar dysplasia
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 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 neutropenia with extra-hematopoietic manifestations
Constitutional sideroblastic anemia
Constitutional thrombocytopenia without extra-hematopoietic manifestations
Constriction band syndrome
Constriction rings 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
Cooks syndrome
Cooley anemia
Cooper-Jabs syndrome
COP
CoPAN
COPA syndrome
Copenhagen syndrome
Coppock-like cataract
CoQ10 deficiency
COQ4-related neonatal encephalomyopathy
Coralliform cataract
Cordiform uterus
Cori disease
Cori-Forbes disease
Corneal anesthesia-deafness-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-perceptive deafness syndrome
Corneal dystrophy with progressive deafness
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-focal epilepsy syndrome
Cortical dysplasia, Taylor type
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
Corticotropin-independent Cushing syndrome
Cor triatriatum
Cor triatriatum dexter
Cor triatriatum dextrum
Cor triatriatum sinister
Cor triatriatum sinistrum
COSA
Cosack syndrome
Costeff optic atrophy syndrome
Costeff syndrome
Costello syndrome
Costovertebral segmentation defect-mesomelia syndrome
Cousin syndrome
COVESDEM syndrome
Cowchock syndrome
Cowden disease
Cowden syndrome
Cow’s milk hypersensitivity
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
COXPD4
COXPD5
COXPD7
COXPD8
COXPD9
CPAI
CPAM
CPAM type 0
CPAM type 1
CPAM type 2
CPAM type 3
CPAM type 4
CPD IV
CPFE
CPI
CPLS syndrome
CPP
CPP
CPS1D
CPS1 deficiency
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
CPVT
CPXD
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
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Craniocerebellocardiac dysplasia
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Craniodiaphyseal dysplasia
Craniodigital-intellectual disability syndrome
Cranioectodermal dysplasia
Craniofacial anomaly with cataract
Craniofacial cleft
Craniofacial conodysplasia
Craniofacial-deafness-hand syndrome
Craniofacial duplication
Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Craniofacial dysplasia-osteopenia syndrome
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Craniofacial dyssynostosis
Craniofacial-ulnar-renal syndrome
Cranio-facio-digito-genital syndrome
Craniofaciofrontodigital syndrome
Craniofrontonasal dysplasia
Craniofrontonasal dysplasia-Poland anomaly syndrome
Craniofrontonasal dysplasia, Teebi type
Craniofrontonasal dysplasia with alopecia and hypogonadism
Craniofrontonasal syndrome
Craniolenticulosutural dysplasia
Craniometadiaphyseal dysplasia, wormian bone type
Craniometaphyseal dysplasia
Craniomicromelic syndrome
Cranio-osteoarthropathy
Craniopharyngioma
Craniorachischisis
Craniorhiny
Craniostenosis with strabismus
Craniosynostosis
Craniosynostosis-alopecia-brain defect syndrome
Craniosynostosis-anal anomalies-porokeratosis syndrome
Craniosynostosis, Boston type
Craniosynostosis-congenital heart disease-intellectual disability syndrome
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Craniosynostosis-dental anomalies
Craniosynostosis-fibular aplasia syndrome
Craniosynostosis, Herrmann-Opitz type
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Craniosynostosis-intracranial calcifications syndrome
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Craniosynostosis, Philadelphia type
Craniosynostosis, Warman type
Craniotelencephalic dysplasia
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
CRAPB
CRASH syndrome
CRBM
CRD
Creatine deficiency syndrome
Creatine transporter deficiency
Cree leukoencephalopathy
Creeping myiasis
CREST syndrome
Cri du chat syndrome
CRIE
Crigler-Najjar syndrome
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Crimean-Congo hemorrhagic fever
Crimean hemorrhagic fever
CRION
Crisponi syndrome
Criss-cross atrioventricular relationships
Criss-cross heart
Criswick-Schepens syndrome
CRMCC
Crome syndrome
Cronkhite-Canada syndrome
Crossed polysyndactyly
Cross syndrome
Croupous bronchitis
Crouzon craniofacial dysostosis
Crouzon-dermoskeletal syndrome
Crouzon disease
Crouzon syndrome-acanthosis nigricans syndrome
Crow-Fukase syndrome
CRS
CRVO
CRYAB-related myofobrillar myopathy
Cryoglobulinemia type 1
Cryoglobulinemic vasculitis
Cryopyrin-associated periodic syndrome
Cryopyrinopathy
Cryptococcosis
Cryptogenic fibrosing alveolitis
Cryptogenic late-onset epileptic spasms
Cryptogenic multifocal ulcerous stenosing enteritis
Cryptogenic organizing pneumonia
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Cryptomicrotia-brachydactyly syndrome
Cryptophthalmia
Cryptophthalmos-syndactyly syndrome
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Cryptosporidiosis
Crystalline stromal dystrophy
CSCD
CSCR
CSID
CSID with minimal starch tolerance
CSID without starch intolerance
CSID without sucrose intolerance
CSID with starch and lactose intolerance
CSID with starch intolerance
CSS
CST3-related amyloidosis
CSVT
CSWS
CSWSS syndrome
C syndrome
CTD-ILD
CTEPH
CTLA-4 haploinsufficiency with autoimmune infiltration disease
CTLN1
CTLN2
CTX
CUD
Culler-Jones syndrome
Curariform drugs toxicity
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’s syndrome
Cushing syndrome
Cushing syndrome due to ectopic ACTH secretion
Cushing syndrome due to macronodular adrenal hyperplasia
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 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-corneal clouding-intellectual disability syndrome
Cutis laxa-Marfanoid syndrome
Cutis laxa with joint laxity and developmental delay
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Cutis marmorata telangiectatica congenita
Cutler-Bass-Romshe syndrome
cvEDS
CVID
Cyanide-induced parkinsonism-dystonia
Cyanide poisoning
Cyclic neutropenia
Cyclosporine-induced folliculodystrophy
Cyclosporosis
CYLD cutaneous syndrome
Cylindrical spirals myopathy
CYP11B1 deficiency
Cyprus facial-neuromusculoskeletal syndrome
Cystathionase deficiency
Cystathione gamma-lyase deficiency syndrome
Cystathionine beta-synthase deficiency
Cystathioninuria
Cystatin amyloidosis
Cystic echinococcosis
Cystic epithelial-stromal tumors of the prostate
Cysticercosis
Cystic fibrosis
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Cystic hamartoma of lung and kidney
Cystic leukoencephalopathy without megalencephaly
Cystic medial necrosis of aorta
Cystinosis
Cystinuria
Cystinuria-lysinuria syndrome
Cystinuria type A
Cystinuria type B
Cystoid macular dystrophy
Cystoisosporiasis
Cystosarcoma phyllodes of the breast
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
Cytomegalic congenital adrenal hypoplasia
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-Brooser syndrome
Czeizel-Losonci syndrome
Czeizel syndrome

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