C

C syndrome42 recruitingView → C11ORF73-related autosomal recessive hypomyelinating leukodystrophyNeurologicalView → C3 deposition glomerulonephritis without proliferation1 recruitingRenalView → C3 glomerulonephritis7 recruitingRenalView → C3 glomerulopathy10 recruitingRenalView → CAD-CDGView → CADDSView → CADINS diseaseView → Caffey disease3 recruitingView → Calcifying aponeurotic fibromaView → Calciphylaxis7 recruitingView → Calciphylaxis cutis2 recruitingView → Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyNeuromuscularView → Calpain-3-related limb-girdle muscular dystrophy D4NeuromuscularView → Calpain-3-related limb-girdle muscular dystrophy R1NeuromuscularView → Calvarial doughnut lesions-bone fragility syndromeView → CAMFAK syndromeView → CAMOS syndromeView → Campomelia, Cumming typeView → Campomelic DysplasiaConnective TissueView → CamptobrachydactylyView → Camptodactyly of fingersView → Camptodactyly syndrome, Guadalajara type 1View → Camptodactyly syndrome, Guadalajara type 2View → Camptodactyly syndrome, Guadalajara type 3View → Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome4 recruitingView → Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndromeView → Camptodactyly-joint contractures-facial skeletal defects syndromeView → Camptodactyly-tall stature-scoliosis-hearing loss syndromeView → Camptodactyly-taurinuria syndromeView → Camurati-Engelmann disease11 recruitingView → Canavan Disease2 recruitingNeurologicalView → Cancer of unknown primary site23 recruitingView → Cancer-associated retinopathy1 recruitingView → CANDLE syndrome1 recruitingView → CANOMAD syndromeView → Cantú syndromeView → Cap myopathy1 recruitingNeuromuscularView → Cap polyposisView → Capillary-lymphatic malformation2 recruitingView → Capillary-lymphatic-venous malformationView → Capillary-lymphatic-venous malformation with segmental distributionView → Capillary-venous malformationView → Carbamoyl-phosphate synthetase 1 deficiency2 recruitingView → Carcinofibroma of the corpus uteriView → Carcinoid syndrome2 recruitingOncologyView → Carcinoid Tumor18 recruitingOncologyView → Carcinoma of esophagus, salivary gland type6 recruitingOncologyView → Carcinoma of liver and intrahepatic biliary tractOncologyGroupView → Carcinoma of the ampulla of Vater4 recruitingOncologyView → Carcinosarcoma of the cervix uteriOncologyView → Carcinosarcoma of the corpus uteri8 recruitingOncologyView → CARD8-related inflammatory bowel diseaseView → Cardiac anomalies-heterotaxy syndrome1 recruitingView → Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeView → Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutationView → Cardiac diverticulumView → Cardiac-urogenital syndrome56 recruitingView → Cardiac-valvular Ehlers-Danlos syndromeConnective TissueView → Cardiocranial syndrome, Pfeiffer typeView → Cardiofaciocutaneous syndrome4 recruitingView → Cardiomyopathy-cataract-hip spine disease syndromeNeuromuscularView → Cardiomyopathy-hypotonia-lactic acidosis syndromeNeuromuscularView → Cardiospondylocarpofacial syndromeView → Carey-Fineman-Ziter syndromeView → Caribbean parkinsonismNeurologicalView → Carnevale syndromeView → Carney complex2 recruitingView → Carney complex-trismus-pseudocamptodactyly syndromeView → Carney triad1 recruitingView → Carney-Stratakis syndrome1 recruitingView → Carnitine palmitoyl transferase 1A deficiencyView → Carnitine palmitoyl transferase II deficiency, myopathic formView → Carnitine palmitoyl transferase II deficiency, neonatal formView → Carnitine palmitoyl transferase II deficiency, severe infantile formView → Carnitine Palmitoyltransferase Deficiency1 recruitingMetabolicView → Carnitine-acylcarnitine translocase deficiency1 recruitingView → Caroli disease1 recruitingView → Caroli syndrome1 recruitingView → Carotid web2 recruitingView → Carpenter syndromeView → Carpenter-Waziri syndromeView → Carpotarsal osteochondromatosisView → Cartilage-hair hypoplasiaView → Carvajal syndromeView → Castleman disease13 recruitingView → Cat-eye syndromeView → Cat-scratch diseaseView → Cataract-aberrant oral frenula-growth delay syndromeView → Cataract-ataxia-deafness syndrome1 recruitingNeurologicalView → Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndromeMetabolicView → Cataract-congenital heart disease-neural tube defect syndromeView → Cataract-deafness-hypogonadism syndrome1 recruitingView → Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeConnective TissueView → Cataract-hypertrichosis-intellectual disability syndromeView → Cataract-intellectual disability-hypogonadism syndrome1 recruitingView → Cataract-microcornea syndromeView → Cataract-nephropathy-encephalopathy syndrome1 recruitingNeurologicalView → Catastrophic antiphospholipid syndromeView → Catecholaminergic Polymorphic Ventricular Tachycardia7 recruitingCardiovascularView → Catel-Manzke syndromeView → Cathepsin A-related arteriopathy-strokes-leukoencephalopathyNeurologicalView → Caudal appendage-deafness syndromeView → Caudal duplicationView → Caudal regression syndrome1 recruitingView → Cavernous hemangiomas of face-supraumbilical midline raphe syndromeView → Cavitary myiasisView → CCDC115-CDGView → CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndromeView → CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndromeView → CDKL5 Deficiency Disorder3 recruitingNeurologicalView → CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndromeImmuneView → CEDNIK syndromeView → Celiac artery compression syndrome2 recruitingView → Celiac disease-epilepsy-cerebral calcification syndromeNeurologicalView → CELSR1-related late-onset primary lymphedemaView → Cenani-Lenz syndromeView → Central areolar choroidal dystrophyView → Central bilateral macrogyriaView → Central cloudy dystrophy of FrançoisView → Central Core Disease24 recruitingNeuromuscularView → Central discoid corneal dystrophyOphthalmologicalView → Central giant cell granuloma2 recruitingView → Central nervous system cystic malformationGroupView → Central nervous system malformationGroupView → Central nervous system tuberculosis6 recruitingView → Central neurocytoma1 recruitingView → Central polydactylyView → Central retinal artery occlusion11 recruitingOphthalmologicalView → Central serous chorioretinopathy4 recruitingView → Centrifugal lipodystrophyView → Centronuclear Myopathy8 recruitingNeuromuscularView → Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeNeurologicalView → Cerebellar ataxia with peripheral neuropathyNeurologicalGroupView → Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 recruitingNeurologicalView → Cerebellar ataxia-ectodermal dysplasia syndrome1 recruitingNeurologicalView → Cerebellar ataxia-hypogonadism syndrome1 recruitingNeurologicalView → Cerebellar ataxia, Cayman type1 recruitingNeurologicalView → Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndromeNeurologicalView → Cerebellar hypoplasia-tapetoretinal degeneration syndromeNeurologicalView → Cerebellar liponeurocytomaNeurologicalView → Cerebellar malformationNeurologicalGroupView → Cerebellar-facial-dental syndromeNeurologicalView → Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy5 recruitingNeurologicalView → Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathyNeurologicalView → Cerebral diseases of vascular origin with epilepsyNeurologicalGroupView → Cerebral gigantism-jaw cysts syndromeView → Cerebral lipidosis with dementiaGroupView → Cerebral malformation with epilepsyNeurologicalGroupView → Cerebral organic aciduriaMetabolicGroupView → Cerebral proliferative angiopathyView → Cerebral sinovenous thrombosisView → Cerebral visual impairment23 recruitingView → Cerebro-oculo-facial-lymphatic syndromeView → Cerebrocostomandibular syndromeView → Cerebrofacial arteriovenous metameric syndromeView → Cerebrofacioarticular syndromeView → Cerebrofaciothoracic dysplasiaView → Cerebrooculonasal syndromeView → Cerebroretinal vasculopathyOphthalmologicalView → Cerebrotendinous Xanthomatosis3 recruitingMetabolicView → Cernunnos-XLF deficiencyView → Cerulean cataractView → Cervical aortic archView → Cervical dermoid cystView → Cervical hypertrichosis-peripheral neuropathy syndromeView → Cervicofacial fibrochondromaView → CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndromeView → CHAND syndromeView → Chandler syndromeView → Channelopathy with epilepsyNeurologicalGroupView → Chaotic conus spinal cord lipomaView → Chapare hemorrhagic feverView → Char syndromeView → Charcot-Marie-Tooth DiseaseNeuromuscularView → Charcot-Marie-Tooth disease type 1A10 recruitingView → Charcot-Marie-Tooth disease type 1B4 recruitingView → Charcot-Marie-Tooth disease type 1C1 recruitingView → Charcot-Marie-Tooth disease type 1D1 recruitingView → Charcot-Marie-Tooth disease type 1E1 recruitingView → Charcot-Marie-Tooth disease type 1F11 recruitingView → Charcot-Marie-Tooth disease type 2B11 recruitingView → Charcot-Marie-Tooth disease type 2B21 recruitingView → Charcot-Marie-Tooth disease type 2B51 recruitingView → Charcot-Marie-Tooth disease type 2H1 recruitingView → Charcot-Marie-Tooth disease type 2P1 recruitingView → Charcot-Marie-Tooth disease type 2R1 recruitingView → Charcot-Marie-Tooth disease type 2S1 recruitingView → Charcot-Marie-Tooth disease type 2T1 recruitingView → Charcot-Marie-Tooth disease type 4A2 recruitingView → Charcot-Marie-Tooth disease type 4B11 recruitingView → Charcot-Marie-Tooth disease type 4B22 recruitingView → Charcot-Marie-Tooth disease type 4B31 recruitingView → Charcot-Marie-Tooth disease type 4C2 recruitingView → Charcot-Marie-Tooth disease type 4D2 recruitingView → Charcot-Marie-Tooth disease type 4E1 recruitingView → Charcot-Marie-Tooth disease type 4F1 recruitingView → Charcot-Marie-Tooth disease type 4GView → Charcot-Marie-Tooth disease type 4H2 recruitingView → Charcot-Marie-Tooth disease type 4J2 recruitingView → Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome1 recruitingView → CHARGE syndrome2 recruitingView → Charlie M syndromeView → CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndromeView → CHD4-related neurodevelopmental disorderView → CHD8 overgrowth syndromeView → Chediak-Higashi Syndrome3 recruitingImmuneView → Cheilitis glandularisView → CheirospondyloenchondromatosisConnective TissueView → Cherubism1 recruitingView → Chikungunya7 recruitingView → Chilblain lupusView → CHILD syndrome289 recruitingView → Childhood absence epilepsy2 recruitingNeurologicalView → Childhood disintegrative disorderView → Childhood encephalopathy due to thiamine pyrophosphokinase deficiencyNeurologicalView → Childhood occipital visual epilepsyNeurologicalView → Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaNeuromuscularView → Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia2 recruitingNeurologicalView → Childhood-onset basal ganglia degeneration syndrome1 recruitingView → Childhood-onset benign chorea with striatal involvementView → Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiencyImmuneView → Childhood-onset epilepsy syndromeNeurologicalGroupView → Childhood-onset hypophosphatasia1 recruitingView → Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderView → Childhood-onset nemaline myopathyNeuromuscularView → Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndromeView → Childhood-onset schizophrenia1 recruitingView → Childhood-onset spasticity with hyperglycinemia1 recruitingView → Childhood-onset Steinert myotonic dystrophy1 recruitingView → Childhood-onset stress-induced neurodegenerative ataxia-seizure syndromeNeurologicalView → CHIME syndromeView → Choanal atresia1 recruitingView → Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndromeEndocrineView → Choanal atresia, bilateralView → Choanal atresia, unilateralView → Cholangiocarcinoma205 recruitingOncologyView → Choledochal cyst5 recruitingView → Cholera12 recruitingView → Cholestasis-lymphedema syndromeView → Cholesteryl ester storage disease3 recruitingMetabolicView → Chondrodysplasia punctata, tibial-metacarpal typeView → Chondrodysplasia punctata, Toriello typeView → Chondrodysplasia with joint dislocations, gPAPP typeView → Chondrodysplasia-difference of sex development syndromeView → Chondroectodermal dysplasia with night blindnessDermatologicalView → Chondromyxoid fibromaView → Chondrosarcoma18 recruitingOncologyView → Chordoid gliomaOncologyView → Chordoma11 recruitingOncologyView → Choriocarcinoma of the central nervous systemOncologyView → Choroid plexus carcinoma4 recruitingOncologyView → Choroidal atrophy-alopecia syndromeView → Choroidal osteomaView → Choroideremia4 recruitingOphthalmologicalView → Christianson syndromeView → ChromomycosisView → Chromophobe renal cell carcinoma4 recruitingRenalView → Chromosomal anomaly with cataractGroupView → Chromosomal anomaly with epilepsy as a major featureNeurologicalGroupView → Chromosomal disease with overgrowthGroupView → Chromosome X structural anomaly syndromeGroupView → Chromosome Y microdeletion syndromeView → Chromosome Y structural anomaly syndromeGroupView → Chronic actinic dermatitisView → Chronic atrial and intestinal dysrhythmia syndromeView → Chronic beryllium diseaseView → Chronic bilirubin encephalopathyNeurologicalView → Chronic diarrhea due to glucoamylase deficiencyView → Chronic diarrhea with villous atrophyView → Chronic encephalitisGroupView → Chronic endophthalmitisOphthalmologicalView → Chronic enteropathy associated with SLCO2A1 geneView → Chronic eosinophilic leukemia4 recruitingBloodView → Chronic Epstein-Barr virus infection syndrome10 recruitingView → Chronic graft versus host disease4258 recruitingView → Chronic Granulomatous Disease13 recruitingImmuneView → Chronic hiccupView → Chronic infantile diarrhea due to guanylate cyclase 2C overactivityView → Chronic inflammatory demyelinating polyneuropathy39 recruitingView → Chronic intervillositis of unknown etiologyView → Chronic intestinal failure10 recruitingView → Chronic intestinal pseudoobstruction syndrome2 recruitingView → Chronic lymphoproliferative disorder of natural killer cells8 recruitingView → Chronic mast cell leukemia6 recruitingBloodView → Chronic mucocutaneous candidiasis1 recruitingView → Chronic myeloid leukemia148 recruitingBloodView → Chronic myelomonocytic leukemia72 recruitingBloodView → Chronic myeloproliferative disease, unclassifiable4 recruitingView → Chronic neurovisceral acid sphingomyelinase deficiencyView → Chronic neutrophilic leukemia3 recruitingBloodView → Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis3 recruitingView → Chronic pneumonitis of infancyView → Chronic primary adrenal insufficiencyRenalGroupView → Chronic Progressive External Ophthalmoplegia3 recruitingMitochondrialView → Chronic relapsing inflammatory optic neuritis3 recruitingView → Chronic respiratory distress with surfactant metabolism deficiencyView → Chronic thromboembolic pulmonary hypertension27 recruitingRespiratoryView → Chronic visceral acid sphingomyelinase deficiencyView → CHST3-related skeletal dysplasiaConnective TissueView → Chudley-Lowry-Hoar syndromeView → Chudley-McCullough syndromeView → Chuvash erythrocytosisView → Chylomicron retention diseaseView → Chylous ascites1 recruitingView → CIDEC-related familial partial lipodystrophyView → Ciliopathies with major skeletal involvementGroupView → CiliopathyGroupView → CINCA syndrome2 recruitingView → Circumscribed astrocytic gliomaOncologyGroupView → Circumscribed choroidal hemangiomaView → Circumscribed palmoplantar hypokeratosisView → Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeBloodView → Citrin deficiencyGroupView → CitrullinemiaGroupView → Citrullinemia type I1 recruitingView → Citrullinemia type IIView → CK syndrome1 recruitingView → CLAPO syndromeView → Clark-Baraitser syndrome1 recruitingView → Class I glucose-6-phosphate dehydrogenase deficiencyView → Classic bladder exstrophyView → Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 recruitingRenalView → Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting formRenalView → Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing formRenalView → Classic congenital lipoid adrenal hyperplasia due to STAR deficencyRenalView → Classic eosinophilic pustular folliculitisView → Classic Galactosemia2 recruitingMetabolicView → Classic glucose transporter type 1 deficiency syndromeView → Classic hairy cell leukemia2 recruitingBloodView → Classic heparin-induced thrombocytopeniaBloodView → Classic Hodgkin lymphoma36 recruitingBloodView → Classic Hodgkin lymphoma, lymphocyte-depleted typeBloodView → Classic Hodgkin lymphoma, lymphocyte-rich typeBloodView → Classic Hodgkin lymphoma, mixed cellularity typeBloodView → Classic Hodgkin lymphoma, nodular sclerosis typeBloodView → Classic maple syrup urine diseaseMetabolicView → Classic medulloblastoma1 recruitingOncologyView → Classic multiminicore myopathyNeuromuscularView → Classic mycosis fungoidesView → Classic neuroendocrine tumor of appendixEndocrineView → Classic organic aciduriaMetabolicGroupView → Classic pantothenate kinase-associated neurodegenerationNeurologicalView → Classic phenylketonuria30 recruitingMetabolicView → Classic pilocytic astrocytomaView → Classic progressive supranuclear palsy syndromeView → Classic pyoderma gangrenosumView → Classic stiff person syndromeView → Classical dermatomyositis1 recruitingView → Classical Ehlers-Danlos syndromeConnective TissueView → Classical-like Ehlers-Danlos syndrome type 1Connective TissueView → Classical-like Ehlers-Danlos syndrome type 2Connective TissueView → CLCN4-related X-linked intellectual disability syndromeView → CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndromeNeurologicalView → Clear cell adenocarcinoma of the ovary4 recruitingOncologyView → Clear cell papillary renal cell carcinoma6 recruitingRenalView → Clear cell renal carcinoma104 recruitingRenalView → Clear cell sarcoma of kidney3 recruitingRenalView → Cleft hard palateView → Cleft lip and alveolusView → Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndromeView → Cleft lip/palate25 recruitingView → Cleft lip/palate-deafness-sacral lipoma syndromeView → Cleft lip/palate-ectodermal dysplasia syndrome1 recruitingDermatologicalView → Cleft lip/palate-intestinal malrotation-cardiopathy syndromeView → Cleft mitral valveView → Cleft palate-congenital heart defect-intellectual disability syndromeView → Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletionView → Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutationView → Cleft palate-large ears-small head syndromeView → Cleft palate-lateral synechia syndromeView → Cleft palate-stapes fixation-oligodontia syndromeView → Cleft velumView → Cleidocranial DysplasiaConnective TissueView → Cleidocranial dysplasia and isolated cranial ossification defectConnective TissueGroupView → Cleidorhizomelic syndromeView → Climatic droplet keratopathyView → CLIPPERSView → CLN1 disease2 recruitingView → CLN10 disease2 recruitingView → CLN11 disease3 recruitingView → CLN12 disease1 recruitingView → CLN13 disease1 recruitingView → CLN14 disease1 recruitingView → CLN2 disease3 recruitingView → CLN3 disease10 recruitingView → CLN4 disease1 recruitingView → CLN5 disease2 recruitingView → CLN6 disease2 recruitingView → CLN7 disease2 recruitingView → CLN8 disease2 recruitingView → Cloacal exstrophyView → Clonorchiasis1 recruitingView → Closed iniencephalyView → Cloverleaf skull-asphyxiating thoracic dysplasia syndromeView → Cloverleaf skull-multiple congenital anomalies syndromeView → CLOVES syndrome4 recruitingView → CNTNAP2-related developmental and epileptic encephalopathyNeurologicalView → Coarctation of aorta7 recruitingView → COASY protein-associated neurodegeneration1 recruitingNeurologicalView → Coats disease2 recruitingView → Coats plus syndrome1 recruitingView → Cobblestone lissencephaly without muscular or ocular involvement1 recruitingNeurologicalView → Cocaine embryofetopathyView → Cocaine intoxicationView → Coccidioidomycosis11 recruitingView → Cochlear nerve deficiencyView → Cochleosaccular degeneration-cataract syndromeView → Cochleovestibular malformationView → Cockayne syndrome4 recruitingView → Cockayne syndrome type 11 recruitingView → Cockayne syndrome type 21 recruitingView → Cockayne syndrome type 31 recruitingView → CODAS syndromeView → Coffin-Lowry syndrome1 recruitingView → Coffin-Siris syndromeView → COFS syndromeView → COG1-CDGView → COG2-CDGView → COG4-CDGView → COG5-CDGView → COG6-CGDView → COG7-CDGView → COG8-CDGView → Cogan syndrome1 recruitingView → Cogan-Reese syndromeView → Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeConnective TissueView → Cohen syndrome1 recruitingView → Cohen-Gibson syndromeView → COL4A1 or COL4A2-related cerebral small vessel diseaseGroupView → COL4A1/2-related familial vascular leukoencephalopathyNeurologicalView → COL6-Related MyopathyNeuromuscularView → Cold Agglutinin Disease4 recruitingBloodView → Cold-induced sweating syndromeView → Cole-Carpenter syndromeView → Collagen type III glomerulopathyRenalView → Collagen-related glomerular basement membrane diseaseRenalGroupView → Collecting duct carcinoma5 recruitingOncologyView → Coloboma of choroid and retinaView → Coloboma of eye lensView → Coloboma of eyelidView → Coloboma of inferior eyelidView → Coloboma of iris1 recruitingView → Coloboma of maculaView → Coloboma of macula-brachydactyly type B syndromeView → Coloboma of optic disc1 recruitingView → Coloboma of superior eyelidView → Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndromeOphthalmologicalView → Colobomatous macrophthalmia-microcornea syndromeOphthalmologicalView → Colobomatous microphthalmiaOphthalmologicalView → Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndromeOphthalmologicalView → Colobomatous microphthalmia-rhizomelic dysplasia syndromeOphthalmologicalView → Colobomatous optic disc-macular atrophy-chorioretinopathy syndromeOphthalmologicalView → Colobomatous-microphthalmia-heart disease-hearing loss syndromeOphthalmologicalView → Colonic atresia1 recruitingView → Color-vision diseaseGroupView → Colorado tick feverView → Combined cervical dystoniaView → Combined deficiency of factor V and factor VIIIView → Combined deficiency of factor VII and factor XView → Combined dystoniaGroupView → Combined hamartoma of the retina and retinal pigment epitheliumOphthalmologicalView → Combined hepatocellular carcinoma and cholangiocarcinoma7 recruitingOncologyView → Combined hyperactive dysfunction syndrome of the cranial nervesView → Combined immunodeficiency due to c-REL deficiencyImmuneView → Combined immunodeficiency due to CARD11 deficiencyImmuneView → Combined immunodeficiency due to CD27 deficiencyImmuneView → Combined immunodeficiency due to CD3gamma deficiencyImmuneView → Combined immunodeficiency due to COPG1 deficiencyImmuneView → Combined immunodeficiency due to CRAC channel dysfunctionImmuneView → Combined immunodeficiency due to dimerization defective IKAROS mutationImmuneView → Combined immunodeficiency due to DOCK2 deficiencyImmuneView → Combined immunodeficiency due to DOCK8 deficiencyImmuneView → Combined immunodeficiency due to FCHO1 deficiencyImmuneView → Combined immunodeficiency due to FOXN1 haploinsufficiencyImmuneView → Combined immunodeficiency due to GINS1 deficiencyImmuneView → Combined immunodeficiency due to HELIOS deficiencyImmuneView → Combined immunodeficiency due to IKBKB deficiencyImmuneView → Combined immunodeficiency due to IKBKB gain-of-function mutationImmuneView → Combined immunodeficiency due to IL21R deficiencyImmuneView → Combined immunodeficiency due to ITK deficiencyImmuneView → Combined immunodeficiency due to LCK deficiencyImmuneView → Combined immunodeficiency due to MALT1 deficiencyImmuneView → Combined immunodeficiency due to Moesin deficiency1 recruitingImmuneView → Combined immunodeficiency due to ORAI1 deficiencyImmuneView → Combined immunodeficiency due to OX40 deficiencyImmuneView → Combined immunodeficiency due to partial RAG1 deficiencyImmuneView → Combined immunodeficiency due to polymerase delta deficiencyImmuneView → Combined immunodeficiency due to RELA haploinsufficiencyImmuneView → Combined immunodeficiency due to RELB deficiencyImmuneView → Combined immunodeficiency due to STIM1 deficiencyImmuneView → Combined immunodeficiency due to STK4 deficiencyImmuneView → Combined immunodeficiency due to TBX1 deficiencyImmuneView → Combined immunodeficiency due to TFRC deficiencyImmuneView → Combined immunodeficiency due to ZAP70 deficiencyImmuneView → Combined immunodeficiency with facio-oculo-skeletal anomaliesImmuneView → Combined immunodeficiency with granulomatosisImmuneView → Combined immunodeficiency with low B cells and hypogammaglobulinemiaImmuneGroupView → Combined immunodeficiency with low CD4 and normal CD8ImmuneView → Combined immunodeficiency with low CD8 and normal CD4ImmuneView → Combined immunodeficiency with low Ig due to BCL10 deficiencyImmuneView → Combined immunodeficiency with normal B cells and normal immunoglubulinsImmuneView → Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiencyImmuneView → Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiencyImmuneView → Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiencyImmuneView → Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiencyImmuneView → Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiencyBloodView → Combined immunodeficiency-multiple intestinal atresiaImmuneView → Combined malonic and methylmalonic acidemiaMetabolicView → Combined oxidative phosphorylation defect type 11View → Combined oxidative phosphorylation defect type 13View → Combined oxidative phosphorylation defect type 14View → Combined oxidative phosphorylation defect type 15View → Combined oxidative phosphorylation defect type 17View → Combined oxidative phosphorylation defect type 2View → Combined oxidative phosphorylation defect type 20View → Combined oxidative phosphorylation defect type 21View → Combined oxidative phosphorylation defect type 23View → Combined oxidative phosphorylation defect type 24View → Combined oxidative phosphorylation defect type 25View → Combined oxidative phosphorylation defect type 26View → Combined oxidative phosphorylation defect type 27View → Combined oxidative phosphorylation defect type 29View → Combined oxidative phosphorylation defect type 30View → Combined oxidative phosphorylation defect type 39View → Combined oxidative phosphorylation defect type 4View → Combined oxidative phosphorylation defect type 7View → Combined oxidative phosphorylation defect type 8View → Combined oxidative phosphorylation defect type 9View → Combined pancreatic lipase-colipase deficiencyView → Combined pituitary hormone deficiencies, genetic formsEndocrineView → Combined pulmonary fibrosis-emphysema syndromeRespiratoryView → Commissural lip fistulaView → Common arterial trunk5 recruitingView → Common arterial trunk with aortic dominanceView → Common arterial trunk with pulmonary dominance and interrupted aortic archRespiratoryView → Common hereditary elliptocytosisView → Common Variable Immunodeficiency13 recruitingImmuneView → Common variable immunodeficiency and related disordersImmuneGroupView → Common variable immunodeficiency phenotype due to CD19/CD81 deficiencyImmuneView → Common variable immunodeficiency phenotype due to CD21 deficiencyImmuneView → Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutationsImmuneView → Common variable immunodeficiency phenotype due to germinal monogenic mutationImmuneGroupView → Common variable immunodeficiency phenotype due to homozygous TACI deficiencyImmuneView → Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiencyImmuneView → Common variable immunodeficiency phenotype due to IRF2BP2 deficiencyImmuneView → Common variable immunodeficiency phenotype due to SEC61A1 deficiencyImmuneView → Common variable immunodeficiency phenotype due to somatic mutationsImmuneView → Common variable immunodeficiency phenotype due to TWEAK deficiencyImmuneView → Common variable immunodeficiency without known genetic defectImmuneView → Communicating congenital bronchopulmonary-foregut malformationRespiratoryView → Complement component 3 deficiency1 recruitingView → Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndromeView → Complete androgen insensitivity syndrome1 recruitingView → Complete atrioventricular septal defect1 recruitingView → Complete atrioventricular septal defect with ventricular hypoplasiaView → Complete atrioventricular septal defect without ventricular hypoplasiaView → Complete atrioventricular septal defect-tetralogy of Fallot1 recruitingView → Complete congenital stationary night blindness, Schubert-Bornschein typeView → Complete cryptophthalmiaOphthalmologicalView → Complete hydatidiform mole1 recruitingView → Complete septate uterusView → Complex chromosomal rearrangement syndromeGroupView → Complex lethal osteochondrodysplasiaView → Complex regional pain syndrome27 recruitingView → Complex regional pain syndrome type 16 recruitingView → Complex regional pain syndrome type 22 recruitingView → Complex vascular malformation with associated anomaliesGroupView → Composite hemangioendotheliomaView → Composite lymphoma1 recruitingBloodView → Conductive deafness-malformed external ear syndromeView → Conductive deafness-ptosis-skeletal anomalies syndromeView → Cone dystrophy with supernormal rod responseView → Cone rod dystrophy-short stature syndromeView → Cone-Rod Dystrophy13 recruitingOphthalmologicalView → Confetti-like macular atrophyOphthalmologicalView → Congenital abducens nerve palsy1 recruitingView → Congenital achiasmaView → Congenital Adrenal Hyperplasia29 recruitingEndocrineView → Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyRenalView → Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyRenalView → Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyRenalView → Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyRenalView → Congenital agenesis of the scrotumView → Congenital alacrimaGroupView → Congenital alpha2-antiplasmin deficiencyView → Congenital alveolar capillary dysplasiaRespiratoryView → Congenital Amegakaryocytic Thrombocytopenia3 recruitingBloodView → Congenital amyoplasiaView → Congenital analbuminemiaView → Congenital anomaly of hepatic vein1 recruitingView → Congenital anomaly of superior vena cavaGroupView → Congenital anomaly of the coronary sinusGroupView → Congenital anomaly of the great arteriesGroupView → Congenital anomaly of the great veinsGroupView → Congenital anomaly of the inferior vena cavaGroupView → Congenital anomaly of the tricuspid valve chordaeView → Congenital aortic valve atresia4 recruitingView → Congenital aortic valve dysplasia8 recruitingView → Congenital aortic valve stenosis48 recruitingView → Congenital aortopulmonary window5 recruitingRespiratoryView → Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndromeOphthalmologicalView → Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndromeView → Congenital atransferrinemiaView → Congenital autosomal recessive small-platelet thrombocytopenia2 recruitingBloodView → Congenital axonal neuropathy with encephalopathy1 recruitingNeurologicalView → Congenital bilateral absence of vas deferens1 recruitingView → Congenital bilateral megacalycosisView → Congenital bile acid synthesis defect type 1View → Congenital bile acid synthesis defect type 2View → Congenital bile acid synthesis defect type 3View → Congenital bile acid synthesis defect type 41 recruitingView → Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndromeView → Congenital brain dysgenesis due to glutamine synthetase deficiencyView → Congenital cataract microcornea with corneal opacityOphthalmologicalView → Congenital cataract-anterior segment dysgenesis syndromeView → Congenital cataract-hearing loss-severe developmental delay syndromeView → Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome1 recruitingNeuromuscularView → Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeView → Congenital cataract-severe neonatal hepatopathy-global developmental delay syndromeView → Congenital cataracts-facial dysmorphism-neuropathy syndrome1 recruitingView → Congenital central hypoventilation syndrome3 recruitingView → Congenital cerebellar ataxia due to RNU12 mutationNeurologicalView → Congenital cervical spinal stenosisView → Congenital chloride diarrhea1 recruitingView → Congenital chronic diarrhea with protein-losing enteropathyView → Congenital chylothorax1 recruitingView → Congenital CLN10 disease2 recruitingView → Congenital communicating hydrocephalusView → Congenital complete agenesis of pericardiumView → Congenital Contractural Arachnodactyly1 recruitingConnective TissueView → Congenital cornea plana1 recruitingView → Congenital coronary artery aneurysm2 recruitingView → Congenital cystic eye3 recruitingView → Congenital deformities of fingersGroupView → Congenital deformities of limbsGroupView → Congenital diaphragmatic hernia30 recruitingView → Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndromeView → Congenital Disorder of Glycosylation4 recruitingMetabolicView → Congenital disorder of glycosylation with cardiac malformation as a major featureGroupView → Congenital disorder of glycosylation with deafness as a major featureGroupView → Congenital disorder of glycosylation with developmental anomalyGroupView → Congenital disorder of glycosylation with dilated cardiomyopathyNeuromuscularGroupView → Congenital disorder of glycosylation with epilepsy as a major featureNeurologicalGroupView → Congenital disorder of glycosylation with hepatic involvementGroupView → Congenital disorder of glycosylation with intestinal involvementGroupView → Congenital disorder of glycosylation with nephropathy as a major featureRenalGroupView → Congenital disorder of glycosylation with neurological involvementGroupView → Congenital disorder of glycosylation with skin involvementGroupView → Congenital disorder of glycosylation-related bone disorderGroupView → Congenital disseminated pyogenic granulomaView → Congenital dyserythropoietic anemia type IBloodView → Congenital dyserythropoietic anemia type IIBloodView → Congenital dyserythropoietic anemia type IIIBloodView → Congenital dyserythropoietic anemia type IVBloodView → Congenital ectropionGroupView → Congenital ectropion uveaeView → Congenital elbow dislocation, bilateralView → Congenital elbow dislocation, unilateralView → Congenital enterocyte heparan sulfate deficiencyView → Congenital enteropathy due to enteropeptidase deficiencyView → Congenital enteropathy involving intestinal mucosa developmentGroupView → Congenital enterovirus infection2 recruitingView → Congenital Epstein-Barr virus infection4 recruitingView → Congenital epulisView → Congenital erosive and vesicular dermatosisView → Congenital erythropoietic porphyria6 recruitingBloodView → Congenital esophageal diverticulumView → Congenital esophageal stenosis4 recruitingView → Congenital eyelid retractionView → Congenital factor II deficiency1 recruitingView → Congenital factor V deficiencyView → Congenital factor VII deficiency3 recruitingView → Congenital factor X deficiency7 recruitingView → Congenital factor XI deficiencyView → Congenital factor XII deficiencyView → Congenital Fiber Type Disproportion1 recruitingNeuromuscularView → Congenital fibrinogen deficiency3 recruitingView → Congenital fibrosis of extraocular muscles1 recruitingView → Congenital functional phagocyte defectGroupView → Congenital generalized lipodystrophy type 41 recruitingView → Congenital generalized hypercontractile muscle stiffness syndromeView → Congenital generalized hypertrichosis, Ambras typeView → Congenital generalized lipodystrophy7 recruitingView → Congenital generalized lipodystrophy type 1View → Congenital generalized lipodystrophy type 22 recruitingView → Congenital generalized lipodystrophy type 31 recruitingView → Congenital genu flexumView → Congenital genu recurvatum1 recruitingView → Congenital Gerbode defectView → Congenital glaucoma7 recruitingView → Congenital glucokinase-related hyperinsulinismView → Congenital heart block26 recruitingView → Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome1 recruitingDermatologicalView → Congenital heart defect-round face-developmental delay syndromeView → Congenital hereditary endothelial dystrophy type IView → Congenital hereditary endothelial dystrophy type IIView → Congenital hereditary facial paralysis-variable hearing loss syndromeView → Congenital herpes simplex virus infection3 recruitingView → Congenital high airway obstruction syndromeView → Congenital high-molecular-weight kininogen deficiencyView → Congenital Horner syndromeView → Congenital hydrocephalus2 recruitingView → Congenital hyperinsulinism due to HNF4A deficiencyView → Congenital hypogonadotropic hypogonadismGroupView → Congenital hypothalamic hamartoma syndrome5 recruitingView → Congenital hypothyroidismEndocrineGroupView → Congenital hypothyroidism due to developmental anomalyEndocrineGroupView → Congenital hypothyroidism due to maternal intake of antithyroid drugsEndocrineView → Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodiesEndocrineView → Congenital ichthyosiform erythroderma7 recruitingView → Congenital ichthyosis-intellectual disability-spastic quadriplegia syndromeDermatologicalView → Congenital ichthyosis-microcephalus-tetraplegia syndromeDermatologicalView → Congenital infiltrating lipomatosis of the faceView → Congenital insensitivity to pain syndrome, Marsili typeView → Congenital insensitivity to pain with severe intellectual disabilityView → Congenital insensitivity to pain-anosmia-neuropathic arthropathyView → Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervationView → Congenital intestinal disease due to an enzymatic defectGroupView → Congenital intestinal transport defectGroupView → Congenital intrahepatic arterioportal fistulaView → Congenital intrinsic factor deficiencyView → Congenital isolated ACTH deficiencyView → Congenital joint dislocationsGroupView → Congenital knee dislocationView → Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndromeNeurologicalView → Congenital lactase deficiency1 recruitingView → Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeView → Congenital laryngeal cyst1 recruitingView → Congenital laryngeal palsyView → Congenital laryngomalacia2 recruitingView → Congenital left ventricular aneurysmView → Congenital lethal erythrodermaView → Congenital lethal myopathy, Compton-North typeNeuromuscularView → Congenital limb malformationGroupView → Congenital limbs-face contractures-hypotonia-developmental delay syndromeView → Congenital lipoid adrenal hyperplasia due to STAR deficencyRenalView → Congenital lobar emphysemaView → Congenital macroglossiaView → Congenital malformation of the eye with glaucoma as a major featureGroupView → Congenital malformation of the eyelidGroupView → Congenital megacalycosisView → Congenital megaprepuceView → Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunizationRenalView → Congenital mesoblastic nephroma1 recruitingRenalView → Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndromeNeurologicalView → Congenital microcoria1 recruitingView → Congenital microgastriaView → Congenital midnasal stenosisView → Congenital mitral malformationGroupView → Congenital mitral stenosis2 recruitingView → Congenital mitral valve insufficiency and/or stenosisGroupView → Congenital multicore myopathy with external ophthalmoplegia2 recruitingNeuromuscularView → Congenital muscular dystrophyNeuromuscularGroupView → Congenital muscular dystrophy due to dystroglycanopathyNeuromuscularGroupView → Congenital muscular dystrophy due to LMNA mutation2 recruitingNeuromuscularView → Congenital muscular dystrophy type 1B3 recruitingNeuromuscularView → Congenital muscular dystrophy type 1C2 recruitingNeuromuscularView → Congenital muscular dystrophy type 1D2 recruitingNeuromuscularView → Congenital muscular dystrophy with cerebellar involvementNeurologicalView → Congenital muscular dystrophy with hyperlaxity1 recruitingNeuromuscularView → Congenital muscular dystrophy with integrin alpha-7 deficiency1 recruitingNeuromuscularView → Congenital muscular dystrophy with intellectual disability2 recruitingNeuromuscularView → Congenital muscular dystrophy with intellectual disability and severe epilepsy2 recruitingNeurologicalView → Congenital muscular dystrophy without intellectual disability2 recruitingNeuromuscularView → Congenital muscular dystrophy-cataract-intellectual disability syndrome2 recruitingNeuromuscularView → Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome1 recruitingNeuromuscularView → Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeNeuromuscularView → Congenital muscular dystrophy, Fukuyama type1 recruitingNeuromuscularView → Congenital myasthenic syndrome7 recruitingView → Congenital myasthenic syndrome due to a sodium channel 1.4 defectView → Congenital myasthenic syndrome due to defective synaptic vesicles exocytosisView → Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholineView → Congenital myasthenic syndrome due to defects in endplate development and maintenanceView → Congenital myasthenic syndrome with glycosylation defectView → Congenital myasthenic syndrome with kinetic defectView → Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductanceView → Congenital myasthenic syndrome with mitochondrial defect1 recruitingMitochondrialView → Congenital myasthenic syndrome with primary acetylcholine receptor deficiencyView → Congenital myasthenic syndromes due to defective axonal transportView → Congenital myopathyNeuromuscularGroupView → Congenital myopathy with excess of thin filamentsNeuromuscularView → Congenital myopathy with internal nuclei and atypical coresNeuromuscularView → Congenital myopathy with myasthenic-like onset1 recruitingNeuromuscularView → Congenital myopathy with reduced type 2 muscle fibersNeuromuscularView → Congenital myopathy, Paradas typeNeuromuscularView → Congenital nephrotic syndrome, Finnish typeRenalView → Congenital neutropeniaBloodGroupView → Congenital neutropenia-combined immunodeficiency due to MKL1 deficiencyBloodView → Congenital neutropenia-myelofibrosis-nephromegaly syndromeBloodView → Congenital non-communicating hydrocephalusView → Congenital oculomotor nerve palsy2 recruitingView → Congenital optic disc excavationGroupView → Congenital optic disc excavation of genetic originGroupView → Congenital or early infantile CACH syndromeView → Congenital osteogenesis imperfecta-microcephaly-cataracts syndromeConnective TissueView → Congenital pancreatic cyst3 recruitingView → Congenital panfollicular nevusView → Congenital partial agenesis of pericardiumView → Congenital partial pulmonary venous return anomalyRespiratoryView → Congenital patella dislocationView → Congenital patent ductus arteriosus aneurysmView → Congenital pericardium anomalyGroupView → Congenital peritoneal encapsulationView → Congenital plasminogen activator inhibitor type 1 deficiencyView → Congenital portosystemic shuntView → Congenital prekallikrein deficiency2 recruitingView → Congenital primary aphakiaView → Congenital primary lymphedema of GordonView → Congenital primary megaureterView → Congenital primary megaureter, nonrefluxing and unobstructed formView → Congenital primary megaureter, obstructed formView → Congenital primary megaureter, refluxing and obstructed formView → Congenital primary megaureter, refluxing formView → Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeImmuneView → Congenital pseudoarthrosis of the clavicleView → Congenital pseudoarthrosis of the femurView → Congenital pseudoarthrosis of the fibulaView → Congenital pseudoarthrosis of the radiusView → Congenital pseudoarthrosis of the tibia1 recruitingView → Congenital pseudoarthrosis of the ulnaView → Congenital ptosis5 recruitingView → Congenital pulmonary airway malformation16 recruitingRespiratoryView → Congenital pulmonary airway malformation type 0RespiratoryView → Congenital pulmonary airway malformation type 1RespiratoryView → Congenital pulmonary airway malformation type 2RespiratoryView → Congenital pulmonary airway malformation type 3RespiratoryView → Congenital pulmonary airway malformation type 4RespiratoryView → Congenital pulmonary lymphangiectasiaRespiratoryView → Congenital pulmonary sequestration1 recruitingRespiratoryView → Congenital pulmonary valvar stenosisRespiratoryView → Congenital pulmonary vein atresia1 recruitingRespiratoryView → Congenital pulmonary veins anomalyRespiratoryGroupView → Congenital renal artery stenosis2 recruitingRenalView → Congenital respiratory-biliary fistula1 recruitingView → Congenital reticular ichthyosiform erythrodermaView → Congenital retinal arteriovenous communicationOphthalmologicalView → Congenital rubella syndromeView → Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndromeView → Congenital secondary polycythemiaBloodGroupView → Congenital short bowel syndrome4 recruitingView → Congenital short QT syndrome2 recruitingView → Congenital sialidosis type 21 recruitingView → Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndromeBloodView → Congenital smooth muscle hamartoma1 recruitingView → Congenital sodium diarrheaView → Congenital stationary night blindness, Riggs typeView → Congenital stationary night blindness, Schubert-Bornschein typeView → Congenital stenosis of the inferior vena cavaView → Congenital stromal corneal dystrophyOphthalmologicalView → Congenital subglottic stenosisView → Congenital sucrase-isomaltase deficiency4 recruitingView → Congenital supravalvular mitral ringView → Congenital symblepharonView → Congenital syphilis4 recruitingView → Congenital systemic veins anomalyGroupView → Congenital temporomandibular joint ankylosisView → Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiencyBloodView → Congenital thrombotic thrombocytopenic purpura7 recruitingView → Congenital thyroid malformation without hypothyroidismEndocrineGroupView → Congenital total pulmonary venous return anomaly1 recruitingRespiratoryView → Congenital toxoplasmosis1 recruitingView → Congenital tracheal stenosis1 recruitingView → Congenital tracheomalacia1 recruitingView → Congenital tricuspid malformationGroupView → Congenital tricuspid stenosisView → Congenital tricuspid valve dysplasia1 recruitingView → Congenital trigeminal anesthesiaView → Congenital trochlear nerve palsy1 recruitingView → Congenital tufting enteropathyView → Congenital unguarded mitral orificeView → Congenital unilateral hypoplasia of depressor anguli orisView → Congenital urachal anomalyGroupView → Congenital varicella syndromeView → Congenital velopharyngeal incompetence3 recruitingView → Congenital vertebral-cardiac-renal anomalies syndromeRenalView → Congenital vertical talusView → Congenital vertical talus, bilateralView → Congenital vertical talus, unilateralView → Congenital vitamin K-dependent coagulation factors deficiencyGroupView → Congenital-onset Steinert myotonic dystrophy2 recruitingView → Congenitally corrected transposition of the great arteries1 recruitingView → Congenitally short costocoracoid ligamentView → Congenitally uncorrected transposition of the great arteriesView → Congenitally uncorrected transposition of the great arteries with cardiac malformationView → Congenitally uncorrected transposition of the great arteries with coarctationView → Conjoined twinsView → Conjunctival malignant melanoma3 recruitingView → Connective tissue disorder due to lysyl hydroxylase-3 deficiencyConnective TissueView → Connective tissue dysplasia, Spellacy typeConnective TissueView → Cono-spondylar dysplasiaView → Conotruncal heart malformationsGroupView → Constitutional anemia due to iron metabolism disorderBloodGroupView → Constitutional deficiency anemiaBloodGroupView → Constitutional dyserythropoietic anemiaBloodGroupView → Constitutional hemolytic anemia due to acanthocytosisBloodGroupView → Constitutional megaloblastic anemia due to folate metabolism disorderBloodGroupView → Constitutional megaloblastic anemia due to vitamin B12 metabolism disorderBloodGroupView → Constitutional megaloblastic anemia with severe neurologic diseaseBloodView → Constitutional mismatch repair deficiency syndrome14 recruitingView → Constitutional sideroblastic anemiaBloodGroupView → Contractures-developmental delay-Pierre Robin syndromeView → Contractures-ectodermal dysplasia-cleft lip/palate syndromeDermatologicalView → Contractures-webbed neck-micrognathia-hypoplastic nipples syndromeView → Cooks syndrome1 recruitingView → Cooper-Jabs syndromeView → COQ7-related distal hereditary motor neuropathyView → Cor triatriatum dexterView → Cor triatriatum sinisterView → Coralliform cataractView → Corneal dystrophyOphthalmologicalGroupView → Corneal dystrophy-perceptive deafness syndrome1 recruitingOphthalmologicalView → Corneal endotheliitisOphthalmologicalView → Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndromeOphthalmologicalView → Cornelia de Lange syndrome4 recruitingView → Corneodermatoosseous syndromeView → CorneodysgenesisGroupView → Coronary arterial fistula1 recruitingView → Coronary artery congenital malformationGroupView → Coronary ostial stenosis or atresiaView → Coronary sinus atresia1 recruitingView → Coronary sinus stenosis1 recruitingView → Corpus callosum agenesis-abnormal genitalia syndromeView → Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeView → Corpus callosum agenesis-macrocephaly-hypertelorism syndromeView → Corpus callosum agenesis-neuronopathy syndromeView → Corpus callosum dysgenesis-hypopituitarism syndromeView → Cortical blindness-intellectual disability-polydactyly syndromeView → Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationNeurologicalView → Corticobasal Degeneration19 recruitingNeurologicalView → Corticobasal syndrome19 recruitingView → Corticosteroid-binding globulin deficiencyView → Costello syndrome4 recruitingView → Cowden syndrome5 recruitingView → Coxoauricular syndromeView → Coxopodopatellar syndromeView → CPE-related Prader-Willi-like syndromeView → Cramp-fasciculation syndromeView → Crandall syndromeView → Crane-Heise syndromeView → Cranial malformationGroupView → Cranial meningocele1 recruitingView → Cranial nerve and nuclear aplasiaGroupView → Cranio-cervical dystonia with laryngeal and upper-limb involvementView → Cranio-osteoarthropathyView → Craniodiaphyseal dysplasiaView → Craniodigital-intellectual disability syndromeView → Cranioectodermal dysplasiaDermatologicalView → Craniofacial anomaly with cataractGroupView → Craniofacial conodysplasiaView → Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndromeView → Craniofacial dysostosis-diaphyseal hyperplasia syndromeConnective TissueView → Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeView → Craniofacial-deafness-hand syndromeView → Craniofaciofrontodigital syndromeView → Craniofrontonasal dysplasiaView → Craniofrontonasal dysplasia-Poland anomaly syndromeView → Craniolenticulosutural dysplasiaView → Craniometadiaphyseal dysplasia, wormian bone typeView → Craniometaphyseal dysplasia1 recruitingView → Craniomicromelic syndromeView → Craniopharyngioma13 recruitingView → CraniorachischisisView → CraniorhinyView → Craniostenosis with strabismusGroupView → CraniosynostosisGroupView → Craniosynostosis-anal anomalies-porokeratosis syndromeDermatologicalView → Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndromeView → Craniosynostosis-dental anomaliesView → Craniosynostosis-dysmorphism-brachydactyly syndromeView → Craniosynostosis-facial dysmorphism-brachydactyly syndromeView → Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndromeView → Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndromeView → Craniosynostosis-intracranial calcifications syndromeView → Craniosynostosis-microretrognathia-severe intellectual disability syndromeView → Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndromeNeurologicalView → Craniosynostosis, Boston typeView → Craniosynostosis, Herrmann-Opitz typeView → Craniosynostosis, Philadelphia typeView → Craniotelencephalic dysplasiaView → Cree leukoencephalopathy3 recruitingNeurologicalView → Creeping myiasisView → CREST syndrome4 recruitingView → Creutzfeldt-Jakob Disease4 recruitingNeurologicalView → Cri-du-Chat Syndrome2 recruitingNeurologicalView → Crigler-Najjar syndrome3 recruitingView → Crigler-Najjar syndrome type 13 recruitingView → Crigler-Najjar syndrome type 21 recruitingView → Crimean-Congo hemorrhagic fever3 recruitingView → Crisponi syndromeView → Criss-cross heartView → Cronkhite-Canada syndromeView → Crossed polysyndactylyView → Crouzon syndrome7 recruitingView → Crouzon syndrome-acanthosis nigricans syndromeView → Cryoglobulinemic vasculitis3 recruitingImmuneView → Cryopyrin-Associated Periodic Syndromes5 recruitingImmuneView → Cryptococcosis5 recruitingView → Cryptogenic late-onset epileptic spasmsNeurologicalView → Cryptogenic multifocal ulcerous stenosing enteritisView → Cryptogenic organizing pneumonia1 recruitingView → Cryptomicrotia-brachydactyly-excess fingertip arch syndromeView → CryptophthalmiaOphthalmologicalGroupView → Cryptorchidism-arachnodactyly-intellectual disability syndromeView → Cryptosporidiosis3 recruitingView → CTCF-related neurodevelopmental disorderView → Curly hair-acral keratoderma-caries syndromeDermatologicalView → Currarino syndromeView → Curry-Jones syndromeView → Cushing Disease37 recruitingEndocrineView → Cushing syndrome due to bilateral macronodular adrenocortical diseaseEndocrineView → Cushing syndrome due to cortisol-producing adrenocortical adenomaEndocrineView → Cushing syndrome due to ectopic ACTH secretionEndocrineView → Cutaneous collagenous vasculopathyView → Cutaneous larva migransView → Cutaneous mastocytoma2 recruitingView → Cutaneous mastocytosis-deafness-microtia syndromeView → Cutaneous myiasisGroupView → Cutaneous neuroendocrine carcinoma54 recruitingEndocrineView → Cutaneous photosensitivity-lethal colitis syndromeView → Cutaneous polyarteritis nodosa3 recruitingView → Cutaneous pseudolymphomaBloodView → Cutaneous small vessel vasculitis2 recruitingImmuneView → Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeView → Cutis Laxa16 recruitingConnective TissueView → Cutis laxa with severe pulmonary, gastrointestinal and urinary anomaliesConnective TissueView → Cutis laxa-Marfanoid syndromeConnective TissueView → Cutis marmorata telangiectatica congenita2 recruitingView → Cutis verticis gyrata-intellectual disability syndromeView → Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndromeOphthalmologicalView → Cutis verticis gyrata-thyroid aplasia-intellectual disability syndromeEndocrineView → Cyanide-induced parkinsonism-dystoniaNeurologicalView → Cyclic neutropenia1 recruitingBloodView → CyclosporiasisView → Cylindrical spirals myopathyNeuromuscularView → Cyprus facial-neuromusculoskeletal syndromeView → Cystadenoma of childhoodView → CystathioninuriaView → Cystic echinococcosis1 recruitingView → Cystic Fibrosis148 recruitingRespiratoryView → Cystic fibrosis-gastritis-megaloblastic anemia syndromeBloodView → Cystic hamartoma of lung and kidneyRenalView → Cystic hygroma2 recruitingView → Cystic leukoencephalopathy without megalencephalyNeurologicalView → Cysticercosis1 recruitingView → Cystinosis9 recruitingView → Cystinuria5 recruitingRenalView → Cystinuria type ARenalView → Cystinuria type BRenalView → Cystoid macular dystrophy4 recruitingOphthalmologicalView → Cysts and fistulae of the face and oral cavityGroupView → Cytophagic histiocytic panniculitisView → Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorderView → Czeizel-Losonci syndromeView → OBSOLETE: C1 inhibitor deficiencyRetired termView → OBSOLETE: Canthal anomalyRetired termView → OBSOLETE: Carcinoma of stomach, salivary gland typeOncologyRetired termView → OBSOLETE: Cardiac disease with cataractRetired termView → OBSOLETE: Cardiomyopathy-renal anomalies syndromeNeuromuscularRetired termView → OBSOLETE: Cardioskeletal syndromeRetired termView → OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndromeRetired termView → OBSOLETE: Cataract, Hutterite typeRetired termView → OBSOLETE: Catecholamine-producing tumorRetired termView → OBSOLETE: Central polydactyly of fingers, bilateralRetired termView → OBSOLETE: Central polydactyly of fingers, unilateralRetired termView → OBSOLETE: Central polydactyly of toesRetired termView → OBSOLETE: Central polydactyly of toes, bilateralRetired termView → OBSOLETE: Central polydactyly of toes, unilateralRetired termView → OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosaDermatologicalRetired termView → OBSOLETE: Cerebral disease with cataractRetired termView → OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1Retired termView → OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2Retired termView → OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3Retired termView → OBSOLETE: Cerebrorenodigital syndromeRetired termView → OBSOLETE: Cervical dystoniaRetired termView → OBSOLETE: Cervical spina bifida apertaRetired termView → OBSOLETE: Cervical spina bifida cysticaRetired termView → OBSOLETE: Cervicofacial lymphatic malformationRetired termView → OBSOLETE: Cervicothoracic spina bifida apertaRetired termView → OBSOLETE: Cervicothoracic spina bifida cysticaRetired termView → OBSOLETE: ChannelopathyRetired termView → OBSOLETE: Channelopathy due to a calcium-activated potassium channel defectRetired termView → OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defectRetired termView → OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defectRetired termView → OBSOLETE: Channelopathy due to a neuronal glycine receptor defectRetired termView → OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defectRenalRetired termView → OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defectRetired termView → OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defectRetired termView → OBSOLETE: Channelopathy due to a transient receptor potential channel defectRetired termView → OBSOLETE: Channelopathy due to a voltage-gated calcium channel defectRetired termView → OBSOLETE: Channelopathy due to a voltage-gated potassium channel defectRetired termView → OBSOLETE: Channelopathy due to a voltage-gated sodium channel defectRetired termView → OBSOLETE: Channelopathy due to an epithelial sodium channel defectRetired termView → OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defectRetired termView → OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channelsRetired termView → OBSOLETE: Cholesterol-ester transfer protein deficiencyRetired termView → OBSOLETE: Chondrodysplasia punctata, Sheffield typeRetired termView → OBSOLETE: Chondrodysplastic malformation syndromeRetired termView → OBSOLETE: ChoristomaRetired termView → OBSOLETE: Choroideremia-hypopituitarism syndromeOphthalmologicalRetired termView → OBSOLETE: Chronic muscular fatigue and/or chronic muscle painRetired termView → OBSOLETE: CINCA syndrome with NLRP3 mutationsRetired termView → OBSOLETE: CINCA syndrome without NLRP3 mutationsRetired termView → OBSOLETE: Circumscribed lymphatic malformationRetired termView → OBSOLETE: Classic mast cell leukemiaBloodRetired termView → OBSOLETE: Classic paraneoplastic limbic encephalitisRetired termView → OBSOLETE: Classic seminomaRetired termView → OBSOLETE: Cleft lip-retinopathy syndromeRetired termView → OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndromeDermatologicalRetired termView → OBSOLETE: CLN4A diseaseRetired termView → OBSOLETE: CLN9 diseaseRetired termView → OBSOLETE: Cobblestone lissencephaly type ANeurologicalRetired termView → OBSOLETE: Cobblestone lissencephaly type BNeurologicalRetired termView → OBSOLETE: Cobblestone lissencephaly type CNeurologicalRetired termView → OBSOLETE: Collagenous colitisRetired termView → OBSOLETE: Colobomatous and areolar dystrophyRetired termView → OBSOLETE: Combined hyperlipidemiaRetired termView → OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defectImmuneRetired termView → OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defectImmuneRetired termView → OBSOLETE: Common variable immunodeficiency due to TNFR deficiencyImmuneRetired termView → OBSOLETE: Complete atrioventricular canal-left heart obstruction syndromeRetired termView → OBSOLETE: Congenital absence of both forearm and hand, bilateralRetired termView → OBSOLETE: Congenital absence of both forearm and hand, unilateralRetired termView → OBSOLETE: Congenital absence of both lower leg and foot, bilateralRetired termView → OBSOLETE: Congenital absence of both lower leg and foot, unilateralRetired termView → OBSOLETE: Congenital absence of the eyebrow/eyelashesRetired termView → OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateralRetired termView → OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateralRetired termView → OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateralRetired termView → OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateralRetired termView → OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumbRetired termView → OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateralRetired termView → OBSOLETE: Congenital absence/hypoplasia of thumb, bilateralRetired termView → OBSOLETE: Congenital absence/hypoplasia of thumb, unilateralRetired termView → OBSOLETE: Congenital adrenal hypoplasia of maternal causeRenalRetired termView → OBSOLETE: Congenital aortic valve insufficiencyRetired termView → OBSOLETE: Congenital arteriovenous fistulaRetired termView → OBSOLETE: Congenital blindness due to retinal non-attachmentOphthalmologicalRetired termView → OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndromeRetired termView → OBSOLETE: Congenital cataract-ichthyosis syndromeDermatologicalRetired termView → OBSOLETE: Congenital cataract, Volkmann typeRetired termView → OBSOLETE: Congenital central diabetes insipidusRetired termView → OBSOLETE: Congenital entropionRetired termView → OBSOLETE: Congenital hydromyeliaRetired termView → OBSOLETE: Congenital hydronephrosisRenalRetired termView → OBSOLETE: Congenital ichthyosis with trichothiodystrophyDermatologicalRetired termView → OBSOLETE: Congenital liver hemangiomaRetired termView → OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomalyNeuromuscularRetired termView → OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomalyNeuromuscularRetired termView → OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomalyNeuromuscularRetired termView → OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndromeNeuromuscularRetired termView → OBSOLETE: Congenital myopathy with central nucleiNeuromuscularRetired termView → OBSOLETE: Congenital myopathy with fiber size variationNeuromuscularRetired termView → OBSOLETE: Congenital myopathy with protein accumulationNeuromuscularRetired termView → OBSOLETE: Congenital myopathy with vacuolesNeuromuscularRetired termView → OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephalyRetired termView → OBSOLETE: Congenital neuronal ceroid lipofuscinosisNeurologicalRetired termView → OBSOLETE: Congenital patella dislocation, bilateralRetired termView → OBSOLETE: Congenital patella dislocation, unilateralRetired termView → OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch toleranceRetired termView → OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intoleranceRetired termView → OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intoleranceRetired termView → OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intoleranceRetired termView → OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intoleranceRetired termView → OBSOLETE: Congenital systemic arteriovenous fistulaRetired termView → OBSOLETE: Congenital unilateral pulmonary hypoplasiaRespiratoryRetired termView → OBSOLETE: Congenital upper palpebral retractionRetired termView → OBSOLETE: Congenital valvular dysplasiaRetired termView → OBSOLETE: Congenital vascular bone syndrome with limb overgrowthRetired termView → OBSOLETE: Congenital vascular bone syndrome with limb shorteningRetired termView → OBSOLETE: Congenital vitreoretinal dysplasiaOphthalmologicalRetired termView → OBSOLETE: Conjunctival hemangioma or hemolymphangiomaRespiratoryRetired termView → OBSOLETE: Conjunctival lymphangiectasiaRetired termView → OBSOLETE: Conjunctival telangiectasiaRetired termView → OBSOLETE: Conjunctival tumorRetired termView → OBSOLETE: Conjunctival vascular anomalyRetired termView → OBSOLETE: Connective tissue disease with eye involvementConnective TissueRetired termView → OBSOLETE: Coppock-like cataractRetired termView → OBSOLETE: CorneoiridogoniodysgenesisRetired termView → OBSOLETE: Coronary artery intramyocardial courseRetired termView → OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndromeRetired termView → OBSOLETE: Cortada-Koussef-Matsumoto syndromeRetired termView → OBSOLETE: Corticobasal degenerationRetired termView → OBSOLETE: Cowpox infectionRetired termView → OBSOLETE: Cranioacrofacial syndromeRetired termView → OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndromeConnective TissueRetired termView → OBSOLETE: Craniofaciocervical osteoglyphic dysplasiaRetired termView → OBSOLETE: Craniosynostosis syndrome or cranial ossification diseaseRetired termView → OBSOLETE: Craniosynostosis-cataract syndromeRetired termView → OBSOLETE: Craniosynostosis-fibular aplasia syndromeRetired termView → OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi typeRetired termView → OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndromeRenalRetired termView → OBSOLETE: CryptosporidiosisRetired termView → OBSOLETE: Cys-loop receptor channelopathyRetired termView → OBSOLETE: Cystic malformation of the posterior fossaRetired termView →