Disease Name Symbol Acronym
C Syndrome CSY001
C-P Angle Neurinoma CPN001
C1 Inhibitor Deficiency C1N001
C1q Deficiency C1Q001
C1q Nephropathy C1Q005
C1r/c1s Deficiency, Combined C1R002
C1s Deficiency C1S001
C2 Deficiency C2D001
C2orf71-Related Retinitis Pigmentosa C2R001
C3 Deficiency C3D001
C3 Glomerulopathy C3G002
C3-Related Atypical Hemolytic-Uremic Syndrome C3R001
C4a Deficiency C4D002
C4b Deficiency C4B001
C5 Deficiency C5D001
C5orf42-Related Joubert Syndrome C5R001
C6 Deficiency C6D001
C7 Deficiency C7D001
C8 Deficiency, Type I C8D002
C8 Deficiency, Type Ii C8D003
C8orf37-Related Retinitis Pigmentosa C8R001
C9 Deficiency C9D001
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia C9R002
Ca4-Related Retinitis Pigmentosa C4R001
Cacna1f-Related X-Linked Congenital Stationary Night Blindness CCN004
Cacna1s-Related Malignant Hyperthermia Susceptibility CCN005
Cacnb4-Related Juvenile Myoclonic Epilepsy CCN006
Cadasil CDS001
Caffey Disease CFF003
Cakut with or Without Vacterl CKT001
Calcaneonavicular Coalition CLC002
Calcific Tendinitis CLC004
Calcification of Joints and Arteries CLC017
Calcifying Epithelial Odontogenic Tumor CLC010
Calcinosis CLC006
Calciphylaxis CLC001
Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia CLM002
Calpainopathy CLP001
Calr-Related Essential Thrombocythemia CLR118
Calr3-Related Familial Hypertrophic Cardiomyopathy CLR119
Calvarial Hyperostosis CLV004
Campomelic Dysplasia CMP005
Camptocormism CMP017
Camptodactyly 1 CMP039
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome CMP012
Campylobacteriosis CMP002
Camurati Engelmann Disease, Type 2 CMR004
Camurati-Engelmann Disease CMR001
Canavan Disease CNV004
Cancer-Associated Retinopathy CNC014
Cancerophobia CNC001
Candida Glabrata CND006
Candidiasis CND004
Candidiasis, Familial, 2, Autosomal Recessive CND026
Candidiasis, Familial, 3 CND027
Candidiasis, Familial, 4, Autosomal Recessive CND028
Candidiasis, Familial, 5, Autosomal Recessive CND029
Candidiasis, Familial, 6, Autosomal Dominant CND024
Candidiasis, Familial, 8 CND025
Candidiasis, Familial, 9 CND031
Cannabis Abuse CNN002
Cannabis Dependence CNN001
Cap Myopathy CPM001
Cap Polyposis CPP003
Capgras Syndrome CPG001
Capillariasis CPL001
Capillary Disease CPL005
Capillary Hemangioma CPL006
Capillary Leak Syndrome CPL003
Capillary Lymphangioma CPL002
Capillary Malformation-Arteriovenous Malformation CPL007
Capillary Malformations, Congenital, 1, Somatic, Mosaic CPL011
Caplan's Syndrome CPL004
Capos Syndrome CPS001
Carasil Syndrome CRS012
Carbamoylphosphate Synthetase I Deficiency CRB152
Carbohydrate Metabolic Disorder CRB025
Carbonic Anhydrase Va Deficiency CRB155
Carboxypeptidase N Deficiency CRB041
Carbuncle CRB016
Carcinoid Syndrome CRC006
Carcinoid Tumors, Intestinal CRC014
Cardiac Arrest CRD119
Cardiac Arrhythmia, Ankyrin-B-Related CRD054
Cardiac Conduction Defect CRD132
Cardiac Conduction Disease with or Without Dilated Cardiomyopathy CRD178
Cardiac Rupture CRD016
Cardiac Sarcoidosis CRD003
Cardiac Tamponade CRD001
Cardiac Valvular Dysplasia, X-Linked CRD017
Cardioencephalomyopathy CRD009
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 CRD170
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 CRD158
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 CRD193
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 CRD192
Cardiofaciocutaneous Syndrome CRD013
Cardiofaciocutaneous Syndrome 2 CRD163
Cardiofaciocutaneous Syndrome 3 CRD164
Cardiofaciocutaneous Syndrome 4 CRD167
Cardiogenic Shock CRD137
Cardiomyopathy CRD011
Cardiomyopathy with or Without Skeletal Myopathy CRD048
Cardiomyopathy, Dilated, 1a CRD093
Cardiomyopathy, Dilated, 1aa, with or Without Lvnc CRD191
Cardiomyopathy, Dilated, 1bb CRD108
Cardiomyopathy, Dilated, 1c, with or Without Lvnc CRD201
Cardiomyopathy, Dilated, 1cc CRD115
Cardiomyopathy, Dilated, 1d CRD097
Cardiomyopathy, Dilated, 1dd CRD091
Cardiomyopathy, Dilated, 1e CRD099
Cardiomyopathy, Dilated, 1ee CRD096
Cardiomyopathy, Dilated, 1ff CRD064
Cardiomyopathy, Dilated, 1g CRD080
Cardiomyopathy, Dilated, 1gg CRD082
Cardiomyopathy, Dilated, 1h CRD069
Cardiomyopathy, Dilated, 1hh CRD159
Cardiomyopathy, Dilated, 1i CRD111
Cardiomyopathy, Dilated, 1ii CRD162
Cardiomyopathy, Dilated, 1j CRD102
Cardiomyopathy, Dilated, 1jj CRD149
Cardiomyopathy, Dilated, 1k CRD070
Cardiomyopathy, Dilated, 1kk CRD155
Cardiomyopathy, Dilated, 1l CRD090
Cardiomyopathy, Dilated, 1m CRD114
Cardiomyopathy, Dilated, 1nn CRD173
Cardiomyopathy, Dilated, 1o CRD105
Cardiomyopathy, Dilated, 1p CRD104
Cardiomyopathy, Dilated, 1q CRD071
Cardiomyopathy, Dilated, 1r CRD107
Cardiomyopathy, Dilated, 1t CRD103
Cardiomyopathy, Dilated, 1u CRD112
Cardiomyopathy, Dilated, 1v CRD113
Cardiomyopathy, Dilated, 1w CRD092
Cardiomyopathy, Dilated, 1x CRD101
Cardiomyopathy, Dilated, 1z CRD060
Cardiomyopathy, Dilated, 2a CRD063
Cardiomyopathy, Dilated, 2b CRD153
Cardiomyopathy, Dilated, 3b CRD187
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma CRD180
Cardiomyopathy, Familial Hypertrophic CRD194
Cardiomyopathy, Familial Hypertrophic, 9 CRD079
Cardiomyopathy, Familial Restrictive 5 CRD218
Cardiomyopathy, Familial Restrictive, 1 CRD176
Cardiomyopathy, Familial Restrictive, 2 CRD057
Cardiomyopathy, Familial Restrictive, 3 CRD098
Cardiomyopathy, Hypertrophic 6 CRD199
Cardiomyopathy, Hypertrophic, 10 CRD204
Cardiomyopathy, Hypertrophic, 11 CRD206
Cardiomyopathy, Hypertrophic, 12 CRD202
Cardiomyopathy, Hypertrophic, 13 CRD195
Cardiomyopathy, Hypertrophic, 14 CRD205
Cardiomyopathy, Hypertrophic, 15 CRD200
Cardiomyopathy, Hypertrophic, 16 CRD197
Cardiomyopathy, Hypertrophic, 17 CRD211
Cardiomyopathy, Hypertrophic, 18 CRD198
Cardiomyopathy, Hypertrophic, 19 CRD209
Cardiomyopathy, Hypertrophic, 2 CRD190
Cardiomyopathy, Hypertrophic, 20 CRD189
Cardiomyopathy, Hypertrophic, 25 CRD208
Cardiomyopathy, Hypertrophic, 3 CRD207
Cardiomyopathy, Hypertrophic, 4 CRD203
Cardiomyopathy, Hypertrophic, 7 CRD210
Cardiomyopathy, Hypertrophic, 8 CRD196
Cardiovascular Cancer CRD118
Cardiovascular Disease Risk Factor ) CRD144
Cardiovascular Organ Benign Neoplasm CRD007
Cardiovascular Syphilis CRD006
Carney Complex Variant CRN038
Carney Complex, Type 1 CRN243
Carney Triad CRN055
Carnitine Acetyltransferase Deficiency CRN039
Carnitine Deficiency, Systemic Primary CRN239
Carnitine-Acylcarnitine Translocase Deficiency CRN041
Carnosinemia CRN042
Caroli Disease CRL004
Caroli Disease, Isolated CRL006
Carotenemia CRT011
Carotid Artery Disease CRT016
Carotid Artery Dissection CRT008
Carotid Artery Occlusion CRT015
Carotid Artery Thrombosis CRT004
Carotid Intimal Medial Thickness 1 CRT043
Carotid Stenosis CRT013
Carpal Tunnel Syndrome, Familial CRP017
Carpenter Syndrome CRP007
Carpenter Syndrome 2 CRP022
Carrion's Disease CRR001
Cartilage Disease CRT017
Cartilage-Hair Hypoplasia CRT002
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders CRT024
Cascade Stomach CSC001
Cask-Related Disorders CSK001
Casp10-Related Autoimmune Lymphoproliferative Syndrome CSP002
Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia CSQ001
Casr-Associated Familial Isolated Hypoparathyroidism CSR001
Casr-Related Disorders CSR002
Casr-Related Familial Isolated Hypoparathyroidism CSR003
Castleman Disease CST005
Cat Eye Syndrome CTY001
Cat-Scratch Disease CTS002
Catamenial Pneumothorax CTM001
Cataract CTR002
Cataract 1, Multiple Types CTR098
Cataract 10, Multiple Types CTR124
Cataract 11, Multiple Types CTR113
Cataract 13 with Adult I Phenotype CTR107
Cataract 14, Multiple Types CTR118
Cataract 15, Multiple Types CTR116
Cataract 16, Multiple Types CTR115
Cataract 17, Multiple Types CTR131
Cataract 18, Autosomal Recessive CTR104
Cataract 19 CTR127
Cataract 2, Multiple Types CTR102
Cataract 20, Multiple Types CTR106
Cataract 21, Multiple Types CTR141
Cataract 22, Autosomal Recessive CTR133
Cataract 23 CTR134
Cataract 24, Anterior Polar CTR123
Cataract 25 CTR121
Cataract 26, Multiple Types CTR110
Cataract 27, Nuclear Progressive CTR100
Cataract 28 CTR157
Cataract 29, Coralliform CTR099
Cataract 3, Multiple Types CTR132
Cataract 30, Pulverulent CTR112
Cataract 31, Multiple Types CTR129
Cataract 32, Multiple Types CTR119
Cataract 33 CTR128
Cataract 34, Multiple Types CTR097
Cataract 36 CTR111
Cataract 38, Autosomal Recessive CTR109
Cataract 39, Multiple Types, Autosomal Dominant CTR101
Cataract 4, Multiple Types CTR103
Cataract 40, X-Linked CTR135
Cataract 41 CTR136
Cataract 42 CTR139
Cataract 43 CTR144
Cataract 44 CTR145
Cataract 45 CTR160
Cataract 46 Juvenile-Onset CTR156
Cataract 47 CTR162
Cataract 5, Multiple Types CTR122
Cataract 6, Multiple Types CTR096
Cataract 7 CTR125
Cataract 8, Multiple Types CTR095
Cataract 9, Multiple Types CTR130
Cataract Congenital Dominant Non Nuclear CTR009
Cataract Microcornea Syndrome CTR014
Cataract-Glaucoma CTR027
Cataract, Autosomal Dominant Congenital 4 CTR146
Cataract, Congenital, with Microcornea or Slight Microphthalmia CTR019
Cataract, Juvenile, with Microcornea and Glucosuria CTR076
Cataract, Polymorphic and Lamellar CTR054
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia CTR140
Catastrophic Antiphospholipid Syndrome CTS005
Catecholaminergic Polymorphic Ventricular Tachycardia CTC001
Catel-Manzke Syndrome CTL005
Catshl Syndrome CTS022
Catsper-Related Male Infertility CTS004
Cauda Equina Neoplasm CDQ003
Cauda Equina Syndrome CDQ001
Caudal Duplication Anomaly CDL005
Caudal Regression Syndrome CDL003
Causalgia CSL001
Cav3-Related Distal Myopathy CV3001
Cav3-Related Sudden Infant Death Syndrome CV3005
Caveolinopathies CVL001
Cavernous Hemangioma CVR006
Cavernous Malformation CVR010
Cavernous Sinus Meningioma CVR001
Cavernous Sinus Thrombosis CVR002
Cavitary Optic Disc Anomalies CVT001
Cayler Cardiofacial Syndrome CYL001
Cbij CBJ001
Cblf CBL006
Cc2d2a-Related Joubert Syndrome CC2001
Cc2d2a-Related Meckel Syndrome CC2002
Ccdc115-Cdg CCD001
Cd19-Related Common Variable Immune Deficiency CD1001
Cd3delta Deficiency CD3002
Cd3epsilon Deficiency CD3004
Cd3gamma Deficiency CD3003
Cd3zeta Deficiency CD3001
Cd40 Ligand Deficiency CD4003
Cd45 Deficiency CD4001
Cd46-Related Atypical Hemolytic-Uremic Syndrome CD4005
Cd8 Deficiency, Familial CD8002
Cd81-Related Common Variable Immune Deficiency CD8003
Cdags Syndrome CDG001
Cdc73-Related Disorders CDC001
Cdc73-Related Familial Isolated Hyperparathyroidism CDC002
Cdc73-Related Parathyroid Carcinoma CDC003
Cdk4-Related Cutaneous Malignant Melanoma CDK002
Cdkl5-Related Angelman-Like Syndrome CDK003
Cdkn2a-Related Cutaneous Malignant Melanoma CDK004
Cdon-Related Holoprosencephaly CDN002
Cecal Benign Neoplasm CCL003
Cecal Disease CCL002
Cecum Adenocarcinoma CCM001
Celiac Disease CLC005
Celiac Disease 10 CLC038
Celiac Disease 11 CLC043
Celiac Disease 12 CLC044
Celiac Disease 13 CLC039
Celiac Disease 2 CLC045
Celiac Disease 3 CLC048
Celiac Disease 4 CLC037
Celiac Disease 5 CLC046
Celiac Disease 6 CLC040
Celiac Disease 7 CLC041
Celiac Disease 8 CLC047
Celiac Disease 9 CLC042
Cell Type Benign Neoplasm CLL012
Cell Type Cancer CLL013
Cellular Congenital Mesoblastic Nephroma CLL007
Cellular Ependymoma CLL010
Cellular Neurofibroma CLL006
Cellular Schwannoma CLL001
Cellulitis CLL003
Cenani-Lenz Syndactyly Syndrome CNN011
Central Centrifugal Cicatricial Alopecia CNT057
Central Congenital Hypothyroidism CNT101
Central Core Disease CNT098
Central Corneal Ulcer CNT026
Central Epithelioid Sarcoma CNT031
Central Hypoventilation Syndrome, Congenital CNT097
Central Nervous System Disease CNT035
Central Nervous System Germ Cell Tumor CNT036
Central Nervous System Germinoma CNT037
Central Nervous System Hemangioma CNT023
Central Nervous System Leukemia CNT018
Central Nervous System Lymphoma CNT005
Central Nervous System Melanocytic Neoplasm CNT041
Central Nervous System Mesenchymal Non-Meningothelial Tumor CNT042
Central Nervous System Organ Benign Neoplasm CNT043
Central Nervous System Primitive Neuroectodermal Neoplasm CNT044
Central Nervous System Teratoma CNT093
Central Nervous System Tuberculosis CNT007
Central Nervous System Vasculitis CNT046
Central Neurocytoma CNT019
Central Pontine Myelinolysis CNT025
Central Precocious Puberty CNT075
Central Retinal Artery Occlusion CNT028
Central Retinal Vein Occlusion CNT016
Central Serous Chorioretinopathy CNT060
Central Sleep Apnea CNT015
Centripetalis Recessive Dystrophic Epidermolysis Bullosa CNT086
Centronuclear Myopathy 5 CNT095
Centrotemporal Epilepsy CNT069
Cep290-Related Bardet-Biedl Syndrome CP2001
Cep290-Related Joubert Syndrome CP2002
Cep290-Related Leber Congenital Amaurosis CP2003
Cep290-Related Meckel Syndrome CP2004
Cep41-Related Joubert Syndrome CP4001
Cercarial Dermatitis CRC001
Cerebellar Agenesis CRB053
Cerebellar Angioblastoma CRB015
Cerebellar Astrocytoma CRB026
Cerebellar Ataxia CRB042
Cerebellar Ataxia and Hypogonadotropic Hypogonadism CRB055
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 CRB092
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss CRB058
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant CRB142
Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome CRB158
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 CRB136
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 CRB141
Cerebellar Ataxia, Nonprogressive, with Mental Retardation CRB139
Cerebellar Atrophy, Visual Impairment and Psychomotor Retardation CRB167
Cerebellar Degeneration CRB059
Cerebellar Disease CRB027
Cerebellar Hypoplasia CRB045
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 CRB106
Cerebellar Liponeurocytoma CRB022
Cerebellar Medulloblastoma CRB028
Cerebellofaciodental Syndrome CRB147
Cerebellopontine Angle Meningioma CRB023
Cerebellopontine Angle Tumor CRB029
Cerebellum Cancer CRB030
Cerebral Amyloid Angiopathy CRB019
Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants CRB096
Cerebral Aneurysms CRB086
Cerebral Angioma CRB014
Cerebral Arterial Disease CRB031
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy CRB047
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 2 CRB166
Cerebral Arteriosclerosis CRB087
Cerebral Arteritis CRB005
Cerebral Artery Occlusion CRB004
Cerebral Atherosclerosis CRB008
Cerebral Atrophy CRB088
Cerebral Cavernous Malformation, Familial CRB051
Cerebral Cavernous Malformations 3 CRB094
Cerebral Cavernous Malformations-1 CRB103
Cerebral Cavernous Malformations-2 CRB102
Cerebral Convexity Meningioma CRB032
Cerebral Creatine Deficiency Syndrome CRB137
Cerebral Creatine Deficiency Syndrome 1 CRB151
Cerebral Creatine Deficiency Syndrome 2 CRB150
Cerebral Creatine Deficiency Syndrome 3 CRB148
Cerebral Degeneration CRB033
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome CRB069
Cerebral Falx Meningioma CRB017
Cerebral Folate Deficiency CRB070
Cerebral Hemisphere Lipoma CRB034
Cerebral Hemorrhage CRB085
Cerebral Hypoxia CRB090
Cerebral Lipidosis CRB018
Cerebral Lymphoma CRB001
Cerebral Meningioma CRB036
Cerebral Neuroblastoma CRB024
Cerebral Palsy CRB037
Cerebral Palsy, Ataxic, Autosomal Recessive CRB108
Cerebral Palsy, Spastic Quadriplegic 3 CRB168
Cerebral Palsy, Spastic Quadriplegic, 1 CRB125
Cerebral Palsy, Spastic Quadriplegic, 2 CRB140
Cerebral Primitive Neuroectodermal Tumor CRB002
Cerebral Sarcoidosis CRB007
Cerebral Sarcoma CRB074
Cerebral Sinovenous Thrombosis CRB132
Cerebral Ventricle Cancer CRB038
Cerebral Visual Impairment CRB159
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked CRB144
Cerebritis CRB009
Cerebro-Oculo-Facio-Skeletal Syndrome CRB091
Cerebrocostomandibular Syndrome CRB154
Cerebrocostomandibular-Like Syndrome CRB078
Cerebrooculofacioskeletal Syndrome 1 CRB101
Cerebrooculofacioskeletal Syndrome 2 CRB098
Cerebrooculofacioskeletal Syndrome 3 CRB099
Cerebrooculofacioskeletal Syndrome 4 CRB100
Cerebroretinal Microangiopathy with Calcifications and Cysts CRB149
Cerebrospinal Fluid Leak CRB079
Cerebrotendinous Xanthomatosis CRB011
Cerebrum Cancer CRB040
Cerkl-Related Retinitis Pigmentosa CRK002
Ceroid Lipofuscinosis, Neuronal, 1 CRD177
Ceroid Lipofuscinosis, Neuronal, 10 CRD182
Ceroid Lipofuscinosis, Neuronal, 11 CRD166
Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type CRD161
Ceroid Lipofuscinosis, Neuronal, 2 CRD183
Ceroid Lipofuscinosis, Neuronal, 3 CRD186
Ceroid Lipofuscinosis, Neuronal, 4, Parry Type CRD169
Ceroid Lipofuscinosis, Neuronal, 5 CRD184
Ceroid Lipofuscinosis, Neuronal, 6 CRD185
Ceroid Lipofuscinosis, Neuronal, 7 CRD179
Ceroid Lipofuscinosis, Neuronal, 8 CRD181
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant CRD075
Ceroid Lipofuscinosis, Neuronal, 9 CRD216
Ceroid Lipofuscinosis, Neuronal, Kufs Type, Adult Onset CRD165
Cerulean Cataract CRL001
Cervical Adenitis CRV030
Cervical Adenocarcinoma CRV031
Cervical Adenoid Cystic Carcinoma CRV013
Cervical Adenoma Malignum CRV014
Cervical Adenosarcoma CRV028
Cervical Adenosquamous Carcinoma CRV033
Cervical Cancer, Somatic CRV047
Cervical Carcinosarcoma CRV036
Cervical Clear Cell Adenocarcinoma CRV026
Cervical Dystonia CRV043
Cervical Incompetence CRV025
Cervical Intraepithelial Neoplasia CRV045
Cervical Keratinizing Squamous Cell Carcinoma CRV029
Cervical Mucinous Adenocarcinoma CRV037
Cervical Neuroblastoma CRV067
Cervical Polyp CRV068
Cervical Spina Bifida Aperta CRV063
Cervical Spina Bifida Cystica CRV062
Cervical Squamous Cell Carcinoma CRV038
Cervical Verrucous Carcinoma CRV012
Cervicitis CRV039
Cervicothoracic Spina Bifida Aperta CRV064
Cervicothoracic Spina Bifida Cystica CRV061
Cervix Carcinoma CRV040
Cervix Disease CRV069
Cervix Endometriosis CRV006
Cervix Small Cell Carcinoma CRV022
Cervix Uteri Carcinoma in Situ CRV002
Cetp-Related Hyperalphalipoproteinemia CTP001
Cfb-Related Atypical Hemolytic-Uremic Syndrome CFB001
Cfc1-Related Conotruncal Heart Malformations CFC001
Cfc1-Related Visceral Heterotaxy CFC002
Cfh-Related Atypical Hemolytic-Uremic Syndrome CFH004
Cfh-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type Ii CFH005
Cfhr3 and Cfhr1-Related Atypical Hemolytic-Uremic Syndrome CFH002
Cfhr5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type Ii CFH003
Cfi-Related Atypical Hemolytic-Uremic Syndrome CFR001
Cfl2-Related Nemaline Myopathy CFL004
Cftr-Related Disorders CFT001
Cftr-Related Hereditary Pancreatitis CFT002
Chagas Disease CHG001
Chanarin-Dorfman Syndrome CHN055
Chancroid CHN002
Char Syndrome CHR101
Charcot-Marie-Tooth Disease CHR071
Charcot-Marie-Tooth Disease 2a2b CHR603
Charcot-Marie-Tooth Disease 2z CHR597
Charcot-Marie-Tooth Disease Axonal Type 2cc CHR599
Charcot-Marie-Tooth Disease Axonal Type 2x CHR598
Charcot-Marie-Tooth Disease Type 2a CHR135
Charcot-Marie-Tooth Disease Type 2c CHR139
Charcot-Marie-Tooth Disease Type 2f CHR142
Charcot-Marie-Tooth Disease Type 2g CHR143
Charcot-Marie-Tooth Disease Type 2k CHR147
Charcot-Marie-Tooth Disease Type 2l CHR549
Charcot-Marie-Tooth Disease Type 2n CHR550
Charcot-Marie-Tooth Disease Type 2o CHR551
Charcot-Marie-Tooth Disease Type 2q CHR553
Charcot-Marie-Tooth Disease Type 2t CHR577
Charcot-Marie-Tooth Disease Type 4k CHR601
Charcot-Marie-Tooth Disease Type 5 CHR571
Charcot-Marie-Tooth Disease, Axonal, Type 20 CHR493
Charcot-Marie-Tooth Disease, Axonal, Type 2f CHR352
Charcot-Marie-Tooth Disease, Axonal, Type 2g CHR372
Charcot-Marie-Tooth Disease, Axonal, Type 2h CHR545
Charcot-Marie-Tooth Disease, Axonal, Type 2k CHR350
Charcot-Marie-Tooth Disease, Axonal, Type 2l CHR353
Charcot-Marie-Tooth Disease, Axonal, Type 2n CHR351
Charcot-Marie-Tooth Disease, Axonal, Type 2q CHR489
Charcot-Marie-Tooth Disease, Axonal, Type 2s CHR520
Charcot-Marie-Tooth Disease, Axonal, Type 2t CHR542
Charcot-Marie-Tooth Disease, Axonal, Type 2u CHR547
Charcot-Marie-Tooth Disease, Axonal, Type 2v CHR548
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis CHR349
Charcot-Marie-Tooth Disease, Dominant Intermediate a CHR491
Charcot-Marie-Tooth Disease, Dominant Intermediate B CHR422
Charcot-Marie-Tooth Disease, Dominant Intermediate C CHR371
Charcot-Marie-Tooth Disease, Dominant Intermediate D CHR481
Charcot-Marie-Tooth Disease, Dominant Intermediate E CHR522
Charcot-Marie-Tooth Disease, Dominant Intermediate F CHR484
Charcot-Marie-Tooth Disease, Recessive Intermediate C CHR480
Charcot-Marie-Tooth Disease, Recessive Intermediate D CHR514
Charcot-Marie-Tooth Disease, Recessive Intermediate, a CHR424
Charcot-Marie-Tooth Disease, Recessive Intermediate, B CHR419
Charcot-Marie-Tooth Disease, Type 1a CHR536
Charcot-Marie-Tooth Disease, Type 1b CHR527
Charcot-Marie-Tooth Disease, Type 1c CHR535
Charcot-Marie-Tooth Disease, Type 1d CHR534
Charcot-Marie-Tooth Disease, Type 1e CHR537
Charcot-Marie-Tooth Disease, Type 1f CHR533
Charcot-Marie-Tooth Disease, Type 2a1 CHR402
Charcot-Marie-Tooth Disease, Type 2a2 CHR357
Charcot-Marie-Tooth Disease, Type 2b CHR530
Charcot-Marie-Tooth Disease, Type 2b1 CHR526
Charcot-Marie-Tooth Disease, Type 2b2 CHR538
Charcot-Marie-Tooth Disease, Type 2d CHR531
Charcot-Marie-Tooth Disease, Type 2e CHR532
Charcot-Marie-Tooth Disease, Type 2i CHR529
Charcot-Marie-Tooth Disease, Type 2j CHR528
Charcot-Marie-Tooth Disease, Type 2r CHR485
Charcot-Marie-Tooth Disease, Type 4a CHR517
Charcot-Marie-Tooth Disease, Type 4b1 CHR521
Charcot-Marie-Tooth Disease, Type 4b2 CHR519
Charcot-Marie-Tooth Disease, Type 4b3 CHR504
Charcot-Marie-Tooth Disease, Type 4c CHR516
Charcot-Marie-Tooth Disease, Type 4d CHR376
Charcot-Marie-Tooth Disease, Type 4f CHR407
Charcot-Marie-Tooth Disease, Type 4h CHR421
Charcot-Marie-Tooth Disease, Type 4j CHR420
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 CHR505
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 CHR408
Charcot-Marie-Tooth Hereditary Neuropathy CHR453
Charcot-Marie-Tooth Neuropathy CHR102
Charcot-Marie-Tooth Neuropathy Dominant Intermediate E CHR574
Charcot-Marie-Tooth Neuropathy Dominant Intermediate F CHR558
Charcot-Marie-Tooth Neuropathy Recessive Intermediate D CHR559
Charcot-Marie-Tooth Neuropathy Type 1 CHR113
Charcot-Marie-Tooth Neuropathy Type 2a CHR115
Charcot-Marie-Tooth Neuropathy Type 2e/1f CHR116
Charcot-Marie-Tooth Neuropathy Type 2h/2k CHR303
Charcot-Marie-Tooth Neuropathy Type 2i/2j CHR304
Charcot-Marie-Tooth Neuropathy Type 2l CHR305
Charcot-Marie-Tooth Neuropathy Type 2n CHR306
Charcot-Marie-Tooth Neuropathy Type 2o CHR307
Charcot-Marie-Tooth Neuropathy Type 4b3 CHR479
Charcot-Marie-Tooth Neuropathy Type 4f CHR313
Charcot-Marie-Tooth Neuropathy Type 4j CHR315
Charcot-Marie-Tooth Neuropathy X CHR316
Charcot-Marie-Tooth Neuropathy X Type 1 CHR120
Charcot-Marie-Tooth Neuropathy X Type 4 CHR319
Charcot-Marie-Tooth Neuropathy X Type 5 CHR121
Charcot-Marie-Tooth Neuropathy X Type 6 CHR575
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 CHR348
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 CHR373
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 CHR374
Charcot-Marie-Toothe Disease, Axonal, Type 2p CHR488
Charge Syndrome CHR103
Charles Bonnet Syndrome CHR158
Chat-Related Congenital Myasthenic Syndrome CHT004
Chchd10-Related Disorders CHC002
Chd2 Myoclonic Encephalopathy CHD007
Chd2-Related Neurodevelopmental Disorders CHD006
Chd7-Related Isolated Gonadotropin-Releasing Hormone Deficiency CHD005
Chediak-Higashi Syndrome CHD001
Cheilitis CHL056
Chek2-Related Susceptibility to Breast and Colorectal Cancer CHK005
Chek2-Related Susceptibility to Breast Cancer CHK003
Chemical Colitis CHM005
Cherry Allergy CHR570
Cherubism CHR003
Chest Wall Lipoma CHS001
Chest Wall Lymphoma CHS005
Chester Porphyria CHS007
Chiari Malformation CHR342
Chiari Malformation Type Ii CHR579
Chiasmal Syndrome CHS002
Chickenpox CHC001
Chief Cell Adenoma CHF001
Chikungunya CHK001
Chilblain Lupus CHL092
Chilblain Lupus 2 CHL114
Child Syndrome CHL071
Childhood Absence Epilepsy CHL002
Childhood Apraxia of Speech CHL109
Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter CHL106
Childhood Disintegrative Disease CHL012
Childhood Electroclinical Syndrome CHL058
Childhood Endodermal Sinus Tumor CHL049
Childhood Hepatocellular Carcinoma CHL128
Childhood Kidney Cell Carcinoma CHL010
Childhood Leukemia CHL061
Childhood Malignant Schwannoma CHL033
Childhood Medulloblastoma CHL018
Childhood Myocerebrohepatopathy Spectrum Disorders CHL086
Childhood Oligodendroglioma CHL006
Childhood Pilocytic Astrocytoma CHL062
Childhood Restrictive Cardiomyopathy CHL087
Childhood Type Dermatomyositis CHL028
Childhood-Onset Nemaline Myopathy CHL107
Childhood-Onset Reducing Body Myopathy, X-Linked CHL088
Childhood-Onset Schizophrenia CHL078
Children's Interstitial Lung Disease CHL079
Chime Syndrome CHM006
Chitotriosidase Deficiency CHT005
Chkb-Related Muscle Diseases CHK004
Chlamydia CHL123
Choanal Atresia and Lymphedema CHN040
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome CHN069
Choanal Atresia, Posterior CHN065
Cholangiocarcinoma, Susceptibility to CHL127
Cholangiolocellular Carcinoma CHL040
Cholangitis CHL066
Cholangitis, Primary Sclerosing CHL119
Cholecystitis CHL067
Cholecystolithiasis CHL013
Choledochal Cyst CHL052
Choledocholithiasis CHL039
Cholelithiasis CHL004
Cholera CHL014
Cholestasis CHL068
Cholestasis-Lymphedema Syndrome CHL073
Cholestasis, Benign Recurrent Intrahepatic CHL120
Cholestasis, Benign Recurrent Intrahepatic, 2 CHL118
Cholestasis, Familial Intrahepatic, of Pregnancy 1 CHL125
Cholestasis, Familial Intrahepatic, of Pregnancy 3 CHL126
Cholestasis, Intrahepatic, of Pregnancy, 1 CHL116
Cholestasis, Intrahepatic, of Pregnancy, 3 CHL115
Cholestasis, Progressive Familial Intrahepatic 1 CHL080
Cholestasis, Progressive Familial Intrahepatic 2 CHL081
Cholestasis, Progressive Familial Intrahepatic 3 CHL082
Cholestasis, Progressive Familial Intrahepatic 4 CHL083
Cholestasis, Progressive Familial Intrahepatic 5 CHL129
Cholesteatoma CHL069
Cholesteatoma of Middle Ear CHL122
Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia CHL090
Cholesterol Embolism CHL070
Cholesterol Ester Storage Disease CHL050
Choline Deficiency Disease CHL045
Cholinergic Urticaria CHL035
Chondroblastic Osteosarcoma CHN003
Chondroblastoma CHN004
Chondrocalcinosis CHN059
Chondrocalcinosis 2 CHN022
Chondrocalcinosis with Early-Onset Osteoarthritis CHN013
Chondrodysplasia Punctata 1, X-Linked CHN017
Chondrodysplasia Punctata 2, X-Linked CHN018
Chondrodysplasia Punctata Syndrome CHN044
Chondrodysplasia Punctata, Rhizomelic, Type 1 CHN062
Chondrodysplasia Punctata, Rhizomelic, Type 2 CHN058
Chondrodysplasia Punctata, Rhizomelic, Type 3 CHN061
Chondrodysplasia Punctata, Tibia-Metacarpal Type CHN067
Chondrodysplasia Punctata, X-Linked Dominant CHN039
Chondrodysplasia Punctata, X-Linked Recessive CHN038
Chondrodysplasia with Joint Dislocations, Grapp Type CHN043
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia CHN050
Chondrodysplasia-Pseudohermaphroditism Syndrome CHN064
Chondrodysplasia, Blomstrand Type CHN054
Chondrodysplasia, Grebe Type CHN057
Chondroid Chordoma CHN009
Chondroid Lipoma CHN001
Chondroma CHN010
Chondromalacia CHN011
Chondromyxoid Fibroma CHN053
Chondrosarcoma CHN012
Chondrosarcoma, Extraskeletal Myxoid CHN056
Chops Syndrome CHP002
Chordoid Glioma CHR033
Chordoid Meningioma CHR055
Chordoma CHR072
Chorea and Dementia CHR321
Chorea Gravidarum CHR051
Chorea, Hereditary Benign CHR423
Choreatic Disease CHR073
Choreoacanthocytosis CHR105
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress CHR322
Chorioamnionitis CHR005
Chorioangioma CHR010
Choriocarcinoma CHR074
Choriocarcinoma of Ovary CHR075
Choriocarcinoma of the Testis CHR076
Choriodal Dystrophy, Central Areolar 2 CHR406
Chorioretinal Atrophy, Progressive Bifocal CHR167
Chorioretinal Scar CHR077
Chorioretinitis CHR078
Choroid Disease CHR079
Choroid Plexus Cancer CHR573
Choroid Plexus Papilloma CHR029
Choroidal Sclerosis CHR080
Choroideremia CHR081
Choroideremia, Deafness, and Mental Retardation CHR506
Choroiditis CHR008
Chrna1-Related Congenital Myasthenic Syndrome CHR323
Chrna1-Related Multiple Pterygium Syndrome, Lethal Type CHR324
Chrna2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHR325
Chrna4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHR326
Chrna7-Related Disorders CHR560
Chrnb1-Related Congenital Myasthenic Syndrome CHR327
Chrnb2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHR328
Chrnd-Related Congenital Myasthenic Syndrome CHR329
Chrnd-Related Multiple Pterygium Syndrome, Lethal Type CHR330
Chrne-Related Congenital Myasthenic Syndrome CHR331
Chrng-Related Disorders CHR332
Chromoblastomycosis CHR031
Chromophobe Adenoma CHR034
Chromophobe Renal Cell Carcinoma CHR177
Chromosomal Deletion Syndrome CHR565
Chromosomal Disease CHR084
Chromosomal Duplication Syndrome CHR569
Chromosomal Triplication CHR178
Chromosome 10q Deletion CHR183
Chromosome 10q23 Deletion Syndrome CHR490
Chromosome 10q23 Deletion Syndrome Juvenile Polyposis of Infancy, Included CHR595
Chromosome 10q26 Deletion Syndrome CHR377
Chromosome 11p15.5-Related Russell-Silver Syndrome CHR333
Chromosome 13q14 Deletion Syndrome CHR492
Chromosome 14q11-Q22 Deletion Syndrome CHR390
Chromosome 15q11-Q13 Duplication Syndrome CHR590
Chromosome 15q11.2 Deletion Syndrome CHR523
Chromosome 15q13.3 Microdeletion Syndrome CHR355
Chromosome 15q24 Deletion Syndrome CHR391
Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included CHR596
Chromosome 15q25 Deletion Syndrome CHR494
Chromosome 15q26-Qter Deletion Syndrome CHR379
Chromosome 16p11.2 Deletion Syndrome, 220-Kb Body Mass Index Quantitative Trait Locus 16, Included CHR585
Chromosome 16p11.2 Deletion Syndrome, 220kb CHR496
Chromosome 16p11.2 Deletion Syndrome, 593-Kb Autism, Susceptibility to, 14a, Included CHR587
Chromosome 16p11.2 Duplication Syndrome CHR498
Chromosome 16p12.2-P11.2 Deletion Syndrome CHR392
Chromosome 16p13.3 Deletion Syndrome CHR204
Chromosome 16p13.3 Deletion Syndrome, Proximal CHR593
Chromosome 16p13.3 Duplication Syndrome CHR524
Chromosome 16q22 Deletion Syndrome CHR499
Chromosome 17p Deletion CHR208
Chromosome 17p13.1 Deletion Syndrome CHR457
Chromosome 17p13.3, Centromeric, Duplication Syndrome CHR589
Chromosome 17q11.2 Deletion Syndrome CHR554
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb CHR581
Chromosome 17q12 Deletion Syndrome CHR501
Chromosome 17q12 Duplication Syndrome CHR502
Chromosome 17q21.31 Duplication Syndrome CHR362
Chromosome 17q23.1-Q23.2 Deletion Syndrome CHR381
Chromosome 17q23.1-Q23.2 Duplication Syndrome CHR363
Chromosome 18 Pericentric Inversion CHR364
Chromosome 18p Deletion Syndrome CHR211
Chromosome 18q Deletion Syndrome CHR382
Chromosome 19p13.13 Deletion Syndrome CHR393
Chromosome 19q13.11 Deletion Syndrome CHR219
Chromosome 1p32-P31 Deletion Syndrome CHR383
Chromosome 1p36 Deletion Syndrome CHR222
Chromosome 1q21.1 Deletion Syndrome CHR566
Chromosome 1q21.1 Duplication Syndrome CHR225
Chromosome 1q41-Q42 Deletion Syndrome CHR226
Chromosome 22q11.2 Deletion Syndrome, Distal CHR346
Chromosome 22q11.2 Microduplication Syndrome CHR539
Chromosome 22q13 Duplication Syndrome CHR503
Chromosome 2p12-P11.2 Deletion Syndrome CHR384
Chromosome 2p16.1-P15 Deletion Syndrome CHR396
Chromosome 2q31.1 Duplication Syndrome CHR365
Chromosome 2q31.2 Deletion Syndrome CHR385
Chromosome 2q37 Deletion Syndrome CHR543
Chromosome 3p Deletion CHR243
Chromosome 3q13.31 Deletion Syndrome CHR483
Chromosome 3q29 Deletion Syndrome CHR594
Chromosome 3q29 Duplication Syndrome CHR582
Chromosome 4p Deletion CHR247
Chromosome 4q21 Deletion Syndrome CHR399
Chromosome 4q32.1-Q32.2 Triplication Syndrome CHR360
Chromosome 5p13 Duplication Syndrome CHR366
Chromosome 5q12 Deletion Syndrome CHR567
Chromosome 6pter-P24 Deletion Syndrome CHR386
Chromosome 6q11-Q14 Deletion Syndrome CHR400
Chromosome 6q24-Q25 Deletion Syndrome CHR568
Chromosome 7q11.23 Duplication Syndrome CHR367
Chromosome 8p Deletion CHR264
Chromosome 8p11 Myeloproliferative Syndrome CHR375
Chromosome 8p23.1 Deletion CHR266
Chromosome 8q21.11 Deletion Syndrome CHR487
Chromosome 9p Deletion Syndrome CHR518
Chromosome 9q Deletion CHR271
Chromosome Xp11.23-P11.22 Duplication Syndrome CHR368
Chromosome Xp11.3 Deletion Syndrome CHR397
Chromosome Xp21 Deletion Syndrome CHR387
Chromosome Xq26.3 Duplication Syndrome CHR525
Chromosome Xq27.3-Q28 Duplication Syndrome CHR507
Chromosome Xq28 Deletion Syndrome CHR275
Chromosome Xq28 Duplication Syndrome CHR369
Chronic Actinic Dermatitis CHR463
Chronic Active Epstein-Barr Virus Infection CHR276
Chronic and Adult-Onset Hexosaminidase a Deficiency CHR335
Chronic Angina CHR476
Chronic Apical Periodontitis CHR013
Chronic Atrial and Intestinal Dysrhythmia CHR515
Chronic Beryllium Disease CHR576
Chronic Cervicitis CHR085
Chronic Cholangitis CHR036
Chronic Closed-Angle Glaucoma CHR054
Chronic Conjunctivitis CHR086
Chronic Cystitis CHR087
Chronic Dacryocystitis CHR060
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity CHR465
Chronic Endophthalmitis CHR059
Chronic Eosinophilic Leukemia CHR563
Chronic Eosinophilic Pneumonia CHR037
Chronic Ethmoiditis CHR047
Chronic Fatigue Syndrome CHR066
Chronic Follicular Conjunctivitis CHR053
Chronic Frontal Sinusitis CHR040
Chronic Gonococcal Salpingitis CHR017
Chronic Graft Versus Host Disease CHR417
Chronic Granulomatous Disease CHR012
Chronic Granulomatous Disease Due to Deficiency of Ncf-1 CHR404
Chronic Granulomatous Disease Due to Deficiency of Ncf-2 CHR405
Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba CHR370
Chronic Granulomatous Disease, X-Linked CHR340
Chronic Infantile Neurological Cutaneous Articular Syndrome CHR282
Chronic Infections, Due to Mbl Deficiency CHR359
Chronic Inflammation of Lacrimal Passage CHR088
Chronic Inflammatory Demyelinating Polyneuritis CHR043
Chronic Inflammatory Demyelinating Polyneuropathy CHR283
Chronic Inflammatory Demyelinating Polyradiculoneuropathy CHR070
Chronic Interstitial Cystitis CHR020
Chronic Intestinal Failure CHR464
Chronic Intestinal Pseudoobstruction CHR557
Chronic Intestinal Vascular Insufficiency CHR067
Chronic Kidney Failure CHR089
Chronic Laryngitis CHR057
Chronic Leukemia CHR418
Chronic Lymphocytic Leukemia CHR090
Chronic Maxillary Sinusitis CHR038
Chronic Meningitis CHR091
Chronic Monocytic Leukemia CHR064
Chronic Mountain Sickness CHR546
Chronic Mucocutaneous Candidiasis CHR063
Chronic Myelocytic Leukemia CHR562
Chronic Myelomonocytic Leukemia CHR285
Chronic Myocardial Ischemia CHR413
Chronic Neutrophilic Leukemia CHR286
Chronic Nk-Cell Lymphocytosis CHR068
Chronic Orbital Inflammation CHR093
Chronic Pain CHR345
Chronic Polyneuropathy CHR094
Chronic Progressive External Ophthalmoplegia CHR095
Chronic Pulmonary Heart Disease CHR096
Chronic Purulent Otitis Media CHR097
Chronic Pyelonephritis CHR098
Chronic Recurrent Multifocal Osteomyelitis CHR288
Chronic Rhinitis CHR048
Chronic Salpingitis CHR099
Chronic Salpingo-Oophoritis CHR018
Chronic Sphenoidal Sinusitis CHR039
Chronic Thromboembolic Pulmonary Hypertension CHR466
Chronic Tic Disorder CHR056
Chronic Ulcer of Skin CHR100
Chronic Venous Insufficiency CHR431
Chronic Venous Leg Ulcers CHR415
Chronic Wasting Disease CHR028
Chudley-Mccullough Syndrome CHD004
Churg-Strauss Syndrome CHR001
Chylomicron Retention Disease CHY002
Chylothorax, Congenital CHY005
Cicatricial Ectropion CCT001
Cicatricial Entropion CCT003
Cicatricial Pemphigoid CCT002
Ciliary Body Cancer CLR122
Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus CLR096
Ciliary Dyskinesia, Primary, 10 CLR056
Ciliary Dyskinesia, Primary, 11 CLR053
Ciliary Dyskinesia, Primary, 12 CLR054
Ciliary Dyskinesia, Primary, 13 CLR059
Ciliary Dyskinesia, Primary, 14 CLR091
Ciliary Dyskinesia, Primary, 15 CLR104
Ciliary Dyskinesia, Primary, 16 CLR099
Ciliary Dyskinesia, Primary, 17 CLR102
Ciliary Dyskinesia, Primary, 18 CLR092
Ciliary Dyskinesia, Primary, 19 CLR095
Ciliary Dyskinesia, Primary, 2 CLR066
Ciliary Dyskinesia, Primary, 20 CLR105
Ciliary Dyskinesia, Primary, 21 CLR088
Ciliary Dyskinesia, Primary, 22 CLR090
Ciliary Dyskinesia, Primary, 23 CLR097
Ciliary Dyskinesia, Primary, 24 CLR107
Ciliary Dyskinesia, Primary, 25 CLR101
Ciliary Dyskinesia, Primary, 26 CLR106
Ciliary Dyskinesia, Primary, 27 CLR098
Ciliary Dyskinesia, Primary, 28 CLR094
Ciliary Dyskinesia, Primary, 29 CLR116
Ciliary Dyskinesia, Primary, 3, with or Without Situs Inversus CLR057
Ciliary Dyskinesia, Primary, 30 CLR114
Ciliary Dyskinesia, Primary, 31 CLR115
Ciliary Dyskinesia, Primary, 32 CLR117
Ciliary Dyskinesia, Primary, 4 CLR067
Ciliary Dyskinesia, Primary, 5 CLR068
Ciliary Dyskinesia, Primary, 6 CLR042
Ciliary Dyskinesia, Primary, 7, with or Without Situs Inversus CLR093
Ciliary Dyskinesia, Primary, 8 CLR069
Ciliary Dyskinesia, Primary, 9, with or Without Situs Inversus CLR103
Ciliopathy CLP005
Cinca Syndrome CNC002
Cirrhosis, Cryptogenic CRR007
Cirrhosis, North American Indian Childhood Type CRR013
Cirrhotic Cardiomyopathy CRR012
Citrullinemia CTR001
Citrullinemia, Adult-Onset Type Ii CTR142
Citrullinemia, Type Ii, Neonatal-Onset CTR077
Ck Syndrome CKS001
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency CLS040
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form CLS028
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form CLS027
Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency CLS025
Classic Fabry Disease CLS011
Classic Mast Cell Leukemia CLS019
Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae CLS035
Classic Phenylketonuria CLS049
Classic Progressive Supranuclear Palsy Syndrome CLS047
Classic Pulmonary Blastoma CLS002
Classic Rett Syndrome CLS012
Clcf1-Related Cold-Induced Sweating Syndrome Including Crisponi Syndrome CLC013
Clcn2-Related Juvenile Myoclonic Epilepsy CLC014
Clcn2-Related Leukoencephalopathy CLC058
Clcn7-Related Osteopetrosis CLC009
Clear Cell Acanthoma CLR001
Clear Cell Adenocarcinoma CLR003
Clear Cell Adenofibroma CLR012
Clear Cell Adenoma CLR014
Clear Cell Basal Cell Carcinoma CLR015
Clear Cell Chondrosarcoma CLR005
Clear Cell Cystadenofibroma CLR006
Clear Cell Ependymoma CLR011
Clear Cell Hidradenoma CLR013
Clear Cell Meningioma CLR018
Clear Cell Papillary Renal Cell Carcinoma CLR112
Clear Cell Renal Cell Carcinoma CLR030
Clear Cell Sarcoma CLR017
Cleft Hard Palate CLF034
Cleft Lip CLF001
Cleft Lip +/- Cleft Palate CLF025
Cleft Lip and Alveolus CLF049
Cleft Lip/palate CLF004
Cleft Lip/palate-Ectodermal Dysplasia Syndrome CLF037
Cleft Palate with Ankyloglossia CLF005
Cleft Palate X-Linked CLF021
Cleft Palate, Isolated CLF027
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features CLF048
Cleft Soft Palate CLF028
Cleidocranial Dysplasia CLD001
Clivus Chordoma CLV002
Clivus Meningioma CLV003
Cll/sll CLL014
Cln11 Disease CLN036
Cln12 Disease CLN040
Cln13 Disease CLN037
Cln14 Disease CLN041
Cln3 Disease CLN047
Cln4 Disease CLN039
Cloacogenic Carcinoma CLC003
Clonorchiasis CLN003
Clopidogrel Resistance CLP006
Clostridium Difficile Colitis CLS016
Clove Syndrome, Somatic CLV009
Clpb Deficiency CLP007
Clrn1-Related Retinitis Pigmentosa CLR032
Clubfoot CLB002
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly CLB019
Cluster Headache CLS010
Cnga1-Related Retinitis Pigmentosa CNG135
Cngb1-Related Retinitis Pigmentosa CNG136
Cngb3-Related Stargardt Disease 1 CNG137
Coach Syndrome CCH002
Coarctation of Aorta CRC039
Coasy Protein-Associated Neurodegeneration CSY002
Coasy-Associated Neurodegeneration CSY003
Coats Disease CTS003
Cobblestone Lissencephaly CBB005
Cocaine Abuse CCN002
Cocaine Dependence CCN001
Cocaine Intoxication CCN009
Coccidioidomycosis CCC001
Coccidiosis CCC002
Cochlear Disease CCH001
Cockayne Syndrome CCK001
Cockayne Syndrome Type I CCK002
Cockayne Syndrome Type Ii CCK003
Cockayne Syndrome Type Iii CCK004
Cockayne Syndrome, Type a CCK005
Cockayne Syndrome, Type B CCK006
Cocoon Syndrome CCN007
Codas Syndrome CDS002
Codeine Toxicity CDN003
Coenurosis CNR001
Coenzyme Q10 Deficiency Disease CNZ001
Coenzyme Q10 Deficiency, Primary, 1 CNZ006
Coenzyme Q10 Deficiency, Primary, 2 CNZ007
Coenzyme Q10 Deficiency, Primary, 3 CNZ004
Coenzyme Q10 Deficiency, Primary, 4 CNZ005
Coenzyme Q10 Deficiency, Primary, 5 CNZ009
Coenzyme Q10 Deficiency, Primary, 6 CNZ008
Coenzyme Q10 Deficiency, Primary, 7 CNZ010
Coffin-Lowry Syndrome CFF002
Coffin-Siris Syndrome CFF001
Coffin-Siris Syndrome 5 CFF005
Cog2-Cdg CG2001
Cogan Syndrome CGN006
Cogan-Reese Syndrome CGN001
Cognitive Impairment with or Without Cerebellar Ataxia CGN005
Cohen Syndrome CHN016
Col11a1-Related Stickler Syndrome CL1001
Col11a2-Related Stickler Syndrome CL1002
Col12a1-Related Muscle Diseases CL1005
Col13a1-Related Congenital Myasthenic Syndrome CL1006
Col17a1-Related Junctional Epidermolysis Bullosa CL1003
Col1a1/2-Related Osteogenesis Imperfecta CL1004
Col2a1-Associated Stickler Syndrome CL2001
Col2a1-Related Stickler Syndrome CL2002
Col4a1-Related Brain Small-Vessel Disease CL4005
Col4a1-Related Disorders CL4001
Col4a3-Related Nephropathy CL4007
Col4a4-Related Nephropathy CL4008
Col4a5-Related Nephropathy CL4006
Col9a1-Related Multiple Epiphyseal Dysplasia CL9001
Col9a1-Related Stickler Syndrome CL9002
Col9a2-Related Multiple Epiphyseal Dysplasia CL9003
Col9a2-Related Stickler Syndrome CL9004
Col9a3-Related Multiple Epiphyseal Dysplasia CL9005
Colchicine Poisoning CLC053
Colchicine Resistance CLC008
Cold Agglutinin Disease CLD007
Cold Urticaria CLD011
Cold-Induced Sweating Syndrome 1 CLD010
Cold-Induced Sweating Syndrome 2 CLD016
Cold-Induced Sweating Syndrome 3 CLD017
Cold-Induced Sweating Syndrome Including Crisponi Syndrome CLD004
Cole Disease CLD014
Cole-Carpenter Syndrome CLC057
Cole-Carpenter Syndrome 1 CLC056
Cole-Carpenter Syndrome 2 CLC055
Colitis CLT003
Collagen Disease CLL015
Collagen Type Vi-Related Disorders CLL018
Collagen Vi-Related Myopathy CLL038
Collagenous Colitis CLL021
Collecting Duct Carcinoma CLL002
Colloid Adenoma CLL011
Colloid Carcinoma of the Pancreas CLL009
Coloboma of Eye Lens CLB008
Coloboma of Eyelid CLB018
Coloboma of Iris CLB009
Coloboma of Optic Nerve CLB003
Coloboma of Optic Papilla CLB012
Coloboma, Ocular CLB027
Coloboma, Ocular, Autosomal Recessive CLB022
Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation CLB021
Colobomatous Microphthalmia CLB026
Colon Adenocarcinoma CLN015
Colon Adenoma CLN044
Colon Cancer, Advanced Somatic CLN046
Colon Carcinoma in Situ CLN004
Colon Lymphoma CLN005
Colon Mucinous Adenocarcinoma CLN002
Colon Neuroendocrine Neoplasm CLN014
Colon Squamous Cell Carcinoma CLN009
Colonic Disease CLN019
Colonic Pseudo-Obstruction CLN006
Color Blindness CLR019
Colorado Tick Fever CLR007
Colorblindness, Deutan CLR063
Colorblindness, Protan CLR062
Colorblindness, Tritan CLR064
Colorectal Adenocarcinoma CLR109
Colorectal Adenoma CLR108
Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas CLR065
Colorectal Cancer CLR023
Colorectal Cancer 1 CLR085
Colorectal Cancer 10 CLR077
Colorectal Cancer 11 CLR078
Colorectal Cancer 12 CLR087
Colorectal Cancer 2 CLR079
Colorectal Cancer 3 CLR075
Colorectal Cancer 5 CLR080
Colorectal Cancer 6 CLR081
Colorectal Cancer 7 CLR082
Colorectal Cancer 8 CLR083
Colorectal Cancer 9 CLR084
Colorectal Cancer Susceptibility 10 CLR120
Colorectal Cancer Susceptibility 12 CLR121
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 CLR070
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 CLR041
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 CLR039
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 CLR037
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 CLR055
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 CLR100
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 CLR089
Colpocephaly CLP002
Colq-Related Congenital Myasthenic Syndrome CLQ001
Combat Disorder CMB002
Combined Cellular and Humoral Immune Defects with Granulomas CMB022
Combined D-2- and L-2-Hydroxyglutaric Aciduria CMB040
Combined Factor V and Viii Deficiency CMB005
Combined Immunodeficiency, X-Linked, Moderate CMB023
Combined Malonic and Methylmalonic Aciduria CMB011
Combined Oxidative Phosphorylation Deficiency CMB008
Combined Oxidative Phosphorylation Deficiency 1 CMB012
Combined Oxidative Phosphorylation Deficiency 10 CMB025
Combined Oxidative Phosphorylation Deficiency 11 CMB046
Combined Oxidative Phosphorylation Deficiency 12 CMB026
Combined Oxidative Phosphorylation Deficiency 13 CMB041
Combined Oxidative Phosphorylation Deficiency 14 CMB044
Combined Oxidative Phosphorylation Deficiency 15 CMB048
Combined Oxidative Phosphorylation Deficiency 16 CMB042
Combined Oxidative Phosphorylation Deficiency 17 CMB049
Combined Oxidative Phosphorylation Deficiency 18 CMB047
Combined Oxidative Phosphorylation Deficiency 19 CMB045
Combined Oxidative Phosphorylation Deficiency 2 CMB013
Combined Oxidative Phosphorylation Deficiency 20 CMB052
Combined Oxidative Phosphorylation Deficiency 21 CMB051
Combined Oxidative Phosphorylation Deficiency 22 CMB053
Combined Oxidative Phosphorylation Deficiency 23 CMB054
Combined Oxidative Phosphorylation Deficiency 24 CMB064
Combined Oxidative Phosphorylation Deficiency 25 CMB063
Combined Oxidative Phosphorylation Deficiency 26 CMB065
Combined Oxidative Phosphorylation Deficiency 27 CMB071
Combined Oxidative Phosphorylation Deficiency 3 CMB014
Combined Oxidative Phosphorylation Deficiency 30 CMB073
Combined Oxidative Phosphorylation Deficiency 4 CMB015
Combined Oxidative Phosphorylation Deficiency 5 CMB016
Combined Oxidative Phosphorylation Deficiency 6 CMB017
Combined Oxidative Phosphorylation Deficiency 7 CMB018
Combined Oxidative Phosphorylation Deficiency 8 CMB019
Combined Oxidative Phosphorylation Deficiency 9 CMB043
Combined Pituitary Hormone Deficiencies, Genetic Forms CMB062
Combined Pituitary Hormone Deficiency CMB021
Combined Sap Deficiency CMB009
Combined Thymoma CMB001
Comedo Carcinoma CMD001
Commensal Bacterial Infectious Disease CMM006
Common Bile Duct Disease CMM007
Common Cold CMM005
Common Variable Immunodeficiency CMM004
Common Variable Osteogenesis Imperfecta with Normal Sclerae CMM020
Common Wart CMM003
Communicating Hydrocephalus CMM008
Compartment Syndrome CMP008
Compensatory Emphysema CMP003
Complement Component 4, Partial Deficiency of CMP040
Complement Component 8 Deficiency CMP066
Complement Component C2 Deficiency CMP036
Complement Component Deficiency CMP031
Complement Component Receptor 1 CMP032
Complement Deficiency CMP009
Complement Factor B Deficiency CMP063
Complement Factor D Deficiency CMP041
Complement Factor H Deficiency CMP042
Complement Factor I Deficiency CMP004
Complete Androgen Insensitivity Syndrome CMP034
Complete Atrioventricular Canal CMP035
Complete Atrioventricular Canal-Fallot Tetralogy Syndrome CMP068
Complete Atrioventricular Canal-Left Heart Obstruction Syndrome CMP070
Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome CMP069
Complex Lethal Osteochondrodysplasia CMP078
Complex Partial Epilepsy CMP006
Complex Regional Pain Syndrome CMP010
Complication After Organ Transplantation CMP062
Complication in Hemodialysis CMP052
Composite Lymphoma CMP001
Comt-Related Altered Drug Metabolism CMT003
Comt-Related Pain Sensitivity Alteration CMT004
Conduct Disorder CND002
Cone Dystrophy CND005
Cone Dystrophy 4 CND012
Cone Dystrophy-3 CND018
Cone-Rod Dystrophy CNR002
Cone-Rod Dystrophy 1 CNR003
Cone-Rod Dystrophy 10 CNR021
Cone-Rod Dystrophy 11 CNR012
Cone-Rod Dystrophy 12 CNR013
Cone-Rod Dystrophy 13 CNR024
Cone-Rod Dystrophy 15 CNR025
Cone-Rod Dystrophy 16 CNR014
Cone-Rod Dystrophy 17 CNR027
Cone-Rod Dystrophy 18 CNR026
Cone-Rod Dystrophy 19 CNR029
Cone-Rod Dystrophy 20 CNR030
Cone-Rod Dystrophy 21 CNR032
Cone-Rod Dystrophy 3 CNR005
Cone-Rod Dystrophy 4 CNR015
Cone-Rod Dystrophy 5 CNR006
Cone-Rod Dystrophy 6 CNR007
Cone-Rod Dystrophy 7 CNR016
Cone-Rod Dystrophy 8 CNR023
Cone-Rod Dystrophy 9 CNR017
Cone-Rod Dystrophy, Prph2-Related CNR035
Cone-Rod Dystrophy, Unc119-Related CNR036
Cone-Rod Dystrophy, X-Linked, 1 CNR031
Cone-Rod Dystropy, X-Linked, 3 CNR028
Cone-Rod Synaptic Disorder, Congenital Nonprogressive CNR033
Congenital Absence of the Vas Deferens CNG039
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency CNG138
Congenital Analbuminemia CNG336
Congenital Anomalies of Kidney and Urinary Tract CNG380
Congenital Bilateral Absence of Vas Deferens CNG035
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome CNG466
Congenital Cataracts, Facial Dysmorphism, and Neuropathy CNG041
Congenital Cataracts, Hearing Loss, and Neurodegeneration CNG382
Congenital Chloride Diarrhea CNG064
Congenital Communicating Hydrocephalus CNG253
Congenital Contractures CNG065
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay CNG437
Congenital Cornea Plana CNG433
Congenital Cytomegalovirus CNG069
Congenital Diaphragmatic Hernia CNG015
Congenital Diarrhea CNG478
Congenital Disorder of Deglycosylation CNG436
Congenital Disorder of Glycosylation 1aa CNG487
Congenital Disorder of Glycosylation, Type Ia CNG415
Congenital Disorder of Glycosylation, Type Ib CNG189
Congenital Disorder of Glycosylation, Type Ic CNG196
Congenital Disorder of Glycosylation, Type Id CNG195
Congenital Disorder of Glycosylation, Type Ie CNG206
Congenital Disorder of Glycosylation, Type if CNG188
Congenital Disorder of Glycosylation, Type Ig CNG194
Congenital Disorder of Glycosylation, Type Ih CNG197
Congenital Disorder of Glycosylation, Type Ii CNG412
Congenital Disorder of Glycosylation, Type Iia CNG191
Congenital Disorder of Glycosylation, Type Iib CNG190
Congenital Disorder of Glycosylation, Type Iic CNG208
Congenital Disorder of Glycosylation, Type Iid CNG187
Congenital Disorder of Glycosylation, Type Iif CNG209
Congenital Disorder of Glycosylation, Type Iig CNG185
Congenital Disorder of Glycosylation, Type Iih CNG204
Congenital Disorder of Glycosylation, Type Iii CNG203
Congenital Disorder of Glycosylation, Type Iij CNG201
Congenital Disorder of Glycosylation, Type Iik CNG383
Congenital Disorder of Glycosylation, Type Iil CNG414
Congenital Disorder of Glycosylation, Type Iim CNG389
Congenital Disorder of Glycosylation, Type Ij CNG205
Congenital Disorder of Glycosylation, Type Ik CNG192
Congenital Disorder of Glycosylation, Type Il CNG198
Congenital Disorder of Glycosylation, Type Im CNG199
Congenital Disorder of Glycosylation, Type in CNG411
Congenital Disorder of Glycosylation, Type Io CNG207
Congenital Disorder of Glycosylation, Type Ip CNG193
Congenital Disorder of Glycosylation, Type Iq CNG200
Congenital Disorder of Glycosylation, Type Ir CNG378
Congenital Disorder of Glycosylation, Type It CNG379
Congenital Disorder of Glycosylation, Type Iu CNG386
Congenital Disorder of Glycosylation, Type Iw CNG388
Congenital Disorder of Glycosylation, Type Ix CNG403
Congenital Disorder of Glycosylation, Type Iy CNG416
Congenital Disorder of Glycosylation, Type Iz CNG435
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway CNG481
Congenital Dyserythropoietic Anemia CNG003
Congenital Epulis CNG004
Congenital Fiber-Type Disproportion CNG046
Congenital Fibrosarcoma CNG023
Congenital Generalized Lipodystrophy CNG012
Congenital Granular Cell Tumor CNG022
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly CNG410
Congenital Heart Defects, Multiple Types, 3 CNG385
Congenital Heart Defects, Multiple Types, 4 CNG404
Congenital Heart Defects, Nonsyndromic, 2 CNG384
Congenital Heart Disease, Atrial Septal Defect CNG148
Congenital Hemolytic Anemia CNG027
Congenital Hepatic Fibrosis CNG048
Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome CNG485
Congenital Hydrocephalus CNG216
Congenital Hypogammaglobulinemia CNG020
Congenital Hypomyelination Neuropathy CNG102
Congenital Hypoplastic Anemia CNG028
Congenital Hypothyroidism CNG006
Congenital Hypothyroidism, Duox2-Related CNG149
Congenital Hypothyroidism, Duoxa2-Related CNG445
Congenital Hypothyroidism, Iyd-Related CNG150
Congenital Hypothyroidism, Tpo-Related CNG153
Congenital Ichthyosiform Erythroderma CNG008
Congenital Insensitivity to Pain with Severe Intellectual Disability CNG472
Congenital Intrauterine Infection-Like Syndrome CNG418
Congenital Intrinsic Factor Deficiency CNG016
Congenital Knee Dislocation CNG282
Congenital Leptin Deficiency CNG376
Congenital Lymphedema CNG439
Congenital Mesoblastic Nephroma CNG029
Congenital Methemoglobinemia CNG223
Congenital Muscular Dystrophy Due to Lmna Mutation CNG420
Congenital Muscular Dystrophy Type 1a CNG112
Congenital Muscular Dystrophy with Cerebellar Involvement CNG426
Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency CNG442
Congenital Muscular Dystrophy with Intellectual Disability CNG427
Congenital Muscular Dystrophy Without Intellectual Disability CNG428
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 10 CNG446
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 12 CNG447
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 13 CNG448
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 14 CNG449
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 6 CNG482
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B 6 CNG483
Congenital Myasthenic Syndrome CNG001
Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency CNG113
Congenital Myasthenic Syndrome with Episodic Apnea CNG114
Congenital Myasthenic Syndromes with Glycosylation Defect CNG429
Congenital Myopathy CNG464
Congenital Myopathy with Myasthenic-Like Onset CNG459
Congenital Myopathy, Paradas Type CNG234
Congenital Nephrotic Syndrome Finnish Type CNG116
Congenital Nervous System Abnormality CNG031
Congenital Non-Communicating Hydrocephalus CNG252
Congenital Nonhemolytic Jaundice CNG117
Congenital Nonspherocytic Hemolytic Anemia CNG017
Congenital Nystagmus CNG024
Congenital Plasminogen Deficiency CNG171
Congenital Porphyria CNG119
Congenital Pulmonary Airway Malformation CNG390
Congenital Pulmonary Alveolar Proteinosis CNG121
Congenital Rubella CNG124
Congenital Secretory Sodium Diarrhea 8 CNG479
Congenital Short Bowel Syndrome CNG413
Congenital Sialidosis Type 2 CNG348
Congenital Stationary Night Blindness CNG010
Congenital Stationary Night Blindness, Type 2b CNG169
Congenital Structural Myopathy CNG032
Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance CNG301
Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance CNG304
Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance CNG299
Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance CNG300
Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance CNG305
Congenital Syphilis CNG033
Congenital Toxoplasmosis CNG021
Congenital Vertical Talus, Bilateral CNG316
Congenital Vertical Talus, Unilateral CNG315
Congestive Heart Failure CNG034
Conidiobolomycosis CND001
Conjugate Gaze Palsy CNJ001
Conjunctival Cancer CNJ009
Conjunctival Degeneration CNJ010
Conjunctival Deposit CNJ011
Conjunctival Disease CNJ012
Conjunctival Folliculosis CNJ002
Conjunctival Intraepithelial Neoplasm CNJ006
Conjunctival Nevus CNJ017
Conjunctival Pigmentation CNJ004
Conjunctival Squamous Cell Carcinoma CNJ018
Conjunctivitis CNJ013
Conjunctivochalasis CNJ007
Conn's Syndrome CNN003
Connective Tissue Benign Neoplasm CNN010
Connective Tissue Cancer CNN004
Connective Tissue Disease CNN005
Conotruncal Heart Malformations CNT061
Constipation CNS004
Constrictive Pericarditis CNS002
Contact Dermatitis CNT047
Contagious Pustular Dermatitis CNT001
Contractural Arachnodactyly, Congenital CNT099
Conventional Angiosarcoma CNV001
Conventional Central Osteosarcoma CNV007
Conventional Fibrosarcoma CNV003
Conventional Leiomyosarcoma CNV006
Conversion Disorder CNV002
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis CNV018
Coproporphyria CPR001
Coq2-Related Coenzyme Q10 Deficiency CQ2001
Coq4-Related Coenzyme Q10 Deficiency CQ4001
Coq6-Related Coenzyme Q10 Deficiency CQ6001
Coq7-Related Coenzyme Q10 Deficiency CQ7001
Coq8a-Related Coenzyme Q10 Deficiency CQ8001
Coq9-Related Coenzyme Q10 Deficiency CQ9001
Core Binding Factor Acute Myeloid Leukemia CRB138
Cork-Handlers' Disease CRK001
Cornea Cancer CRN021
Cornea Plana CRN249
Cornea Plana Congenita, Recessive CRN136
Corneal Abscess CRN004
Corneal Degeneration CRN022
Corneal Deposit CRN023
Corneal Disease CRN024
Corneal Dystrophy CRN025
Corneal Dystrophy, Avellino Type CRN237
Corneal Dystrophy, Congenital Stromal CRN241
Corneal Dystrophy, Endothelial, X-Linked CRN128
Corneal Dystrophy, Epithelial Basement Membrane CRN238
Corneal Dystrophy, Fuchs Endothelial, 1 CRN233
Corneal Dystrophy, Fuchs Endothelial, 2 CRN242
Corneal Dystrophy, Fuchs Endothelial, 3 CRN120
Corneal Dystrophy, Fuchs Endothelial, 4 CRN143
Corneal Dystrophy, Fuchs Endothelial, 5 CRN121
Corneal Dystrophy, Fuchs Endothelial, 6 CRN147
Corneal Dystrophy, Fuchs Endothelial, 7 CRN122
Corneal Dystrophy, Fuchs Endothelial, 8 CRN218
Corneal Dystrophy, Gelatinous Drop-Like CRN106
Corneal Dystrophy, Groenouw Type I CRN235
Corneal Dystrophy, Lattice Type I CRN236
Corneal Dystrophy, Lattice Type Iiia CRN160
Corneal Dystrophy, Lisch Epithelial CRN126
Corneal Dystrophy, Posterior Amorphous CRN274
Corneal Dystrophy, Posterior Polymorphous 2 CRN229
Corneal Dystrophy, Posterior Polymorphous, 1 CRN231
Corneal Dystrophy, Posterior Polymorphous, 3 CRN146
Corneal Dystrophy, Reis-Bucklers Type CRN141
Corneal Dystrophy, Schnyder Type CRN244
Corneal Dystrophy, Subepithelial Mucinous CRN273
Corneal Dystrophy, Thiel-Behnke Type CRN247
Corneal Ectasia CRN009
Corneal Edema CRN026
Corneal Endothelial Dystrophy CRN276
Corneal Endothelial Dystrophy 1, Autosomal Dominant CRN222
Corneal Endothelial Dystrophy 2, Autosomal Recessive CRN107
Corneal Endothelial Dystrophy and Perceptive Deafness CRN142
Corneal Endothelial Dystrophy Type 2 CRN068
Corneal Fleck Dystrophy CRN046
Corneal Granular Dystrophy CRN010
Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia CRN219
Corneal Neovascularization CRN027
Corneal Opacification and Other Ocular Anomalies CRN230
Corneal Staphyloma CRN007
Corneal Ulcer CRN028
Cornelia De Lange Syndrome 1 CRN139
Cornelia De Lange Syndrome 2 CRN134
Cornelia De Lange Syndrome 3 CRN135
Cornelia De Lange Syndrome 4 CRN215
Cornelia De Lange Syndrome 5 CRN209
Coronary Aneurysm CRN006
Coronary Artery Aneurysm CRN074
Coronary Artery Disease CRN211
Coronary Artery Disease, Autosomal Dominant, 1 CRN133
Coronary Artery Disease, Autosomal Dominant, 2 CRN123
Coronary Artery Vasospasm CRN019
Coronary Heart Disease 2 CRN174
Coronary Heart Disease 3 CRN172
Coronary Heart Disease 4 CRN175
Coronary Heart Disease 5 CRN214
Coronary Heart Disease 6 CRN178
Coronary Heart Disease 7 CRN177
Coronary Heart Disease 8 CRN173
Coronary Heart Disease 9 CRN176
Coronary Restenosis CRN020
Coronary Stenosis CRN030
Coronary Thrombosis CRN017
Coronin-1a Deficiency CRN011
Corpus Callosum Agenesis CRP010
Corpus Callosum Lipoma CRP003
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia CRP019
Corpus Callosum, Partial Agenesis of CRP025
Corpus Luteum Cyst CRP004
Cortical Blindness CRT012
Cortical Deafness CRT007
Cortical Dysgenesis with Pontocerebellar Hypoplasia Due to Tubb3 Mutation CRT059
Cortical Dysplasia-Focal Epilepsy Syndrome CRT037
Cortical Dysplasia, Complex, with Other Brain Malformations 1 CRT070
Cortical Dysplasia, Complex, with Other Brain Malformations 2 CRT067
Cortical Dysplasia, Complex, with Other Brain Malformations 3 CRT068
Cortical Dysplasia, Complex, with Other Brain Malformations 4 CRT071
Cortical Dysplasia, Complex, with Other Brain Malformations 5 CRT073
Cortical Dysplasia, Complex, with Other Brain Malformations 6 CRT074
Cortical Malformations, Occipital CRT069
Cortical Senile Cataract CRT003
Cortical Thymoma CRT005
Corticobasal Degeneration CRT033
Corticosteroid-Binding Globulin Deficiency CRT046
Corticosterone Methyloxidase Deficiency CRT064
Cortisone Reductase Deficiency CRT020
Cortisone Reductase Deficiency 1 CRT065
Cortisone Reductase Deficiency 2 CRT066
Costello Syndrome CST001
Cough Variant Asthma CGH001
Coumarin Resistance CMR002
Cousin Syndrome CSN001
Cow Milk Allergy CWM001
Cowchock Syndrome CWC001
Cowden Syndrome 1 CWD006
Cowden Syndrome 2 CWD003
Cowden Syndrome 3 CWD007
Cowden Syndrome 4 CWD005
Cowden Syndrome 5 CWD004
Cowden Syndrome 6 CWD008
Cowden Syndrome 7 CWD009
Cowpox CWP001
Cpt Deficiency, Hepatic, Type Ia CPT003
Cpt Deficiency, Hepatic, Type Ii CPT004
Cpt Ii Deficiency, Lethal Neonatal CPT005
Cr2-Related Common Variable Immune Deficiency CR2001
Cr2-Related Susceptibility to Systemic Lupus Erythematosus CR2002
Cramp-Fasciculation Syndrome CRM010
Crane-Heise Syndrome CRN076
Cranial Nerve Disease CRN031
Cranial Nerve Malignant Neoplasm CRN033
Cranial Nerve Palsy CRN035
Cranio-Facial Dystonia CRN225
Craniodiaphyseal Dysplasia CRN013
Craniodiaphyseal Dysplasia, Autosomal Dominant CRN220
Cranioectodermal Dysplasia 1 CRN108
Cranioectodermal Dysplasia 2 CRN109
Cranioectodermal Dysplasia 3 CRN110
Cranioectodermal Dysplasia 4 CRN111
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome CRN210
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome CRN212
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome CRN275
Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development CRN265
Craniofacial-Deafness-Hand Syndrome CRN048
Craniofacioskeletal Syndrome CRN156
Craniofrontonasal Dysplasia CRN248
Craniolenticulosutural Dysplasia CRN049
Craniometaphyseal Dysplasia CRN012
Craniometaphyseal Dysplasia, Autosomal Recessive CRN240
Cranioosteoarthropathy CRN246
Craniopharyngioma CRN036
Craniorachischisis CRN088
Craniosynostosis CRN037
Craniosynostosis 3 CRN217
Craniosynostosis 4 CRN221
Craniosynostosis 5 CRN216
Craniosynostosis 6 CRN256
Craniosynostosis and Dental Anomalies CRN200
Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies CRN213
Craniosynostosis, Adelaide Type CRN234
Craniosynostosis, Nonsyndromic CRN112
Craniosynostosis, Philadelphia Type CRN245
Craniosynostosis, Type 1 CRN159
Craniosynostosis, Type 2 CRN158
Crb1-Related Leber Congenital Amaurosis CRB082
Crb1-Related Retinitis Pigmentosa CRB083
Creatine Deficiency Syndromes CRT055
Creatine Phosphokinase, Elevated Serum CRT045
Crebbp-Related Rubinstein-Taybi Syndrome CRB084
Crescentic Glomerulonephritis CRS001
Crest Syndrome CRS005
Creutzfeldt-Jakob Disease CRT072
Crh-Related Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CRH003
Cri-Du-Chat Syndrome CRD002
Cribriform Carcinoma CRB006
Crigler-Najjar Syndrome, Type I CRG003
Crigler-Najjar Syndrome, Type Ii CRG004
Crimean-Congo Hemorrhagic Fever CRM001
Criss-Cross Heart CRS011
Critical Illness Polyneuropathy CRT009
Critical Limb Ischemia CRT049
Crlf1-Related Cold-Induced Sweating Syndrome Including Crisponi Syndrome CRL003
Crohn's Colitis CRH005
Crohn's Disease CRH001
Croup CRP002
Crouzon Syndrome CRZ001
Crouzon Syndrome with Acanthosis Nigricans CRZ002
Crtap-Related Osteogenesis Imperfecta CRT041
Crustacean Allergy CRS013
Crx-Related Leber Congenital Amaurosis CRX001
Crx-Related Retinitis Pigmentosa CRX002
Cryab-Related Dilated Cardiomyopathy CRY025
Cryofibrinogenemia CRY006
Cryoglobulinemia CRY004
Cryoglobulinemia, Familial Mixed CRY007
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly CRY028
Cryopyrin-Associated Periodic Syndrome CRY008
Cryptococcal Meningitis CRY014
Cryptococcosis CRY005
Cryptogenic Organizing Pneumonia CRY001
Cryptophthalmos CRY010
Cryptorchidism CRY002
Cryptosporidiosis CRY003
Csf1r-Related Hereditary Diffuse Leukoencephalopathy with Spheroids CSF001
Csf2ra-Related Pulmonary Surfactant Metabolism Dysfunction CSF002
Csfrb-Related Pulmonary Surfactant Metabolism Dysfunction CSF003
Cspp1-Related Joubert Syndrome CSP004
Csrp3-Related Dilated Cardiomyopathy CSR004
Csrp3-Related Familial Hypertrophic Cardiomyopathy CSR005
Ctrc-Related Hereditary Pancreatitis CTR042
Cubitus Valgus with Mental Retardation and Unusual Facies CBT001
Culler-Jones Syndrome CLL036
Curariform Drugs Toxicity CRR014
Curly Hair-Acral Keratoderma-Caries Syndrome CRL002
Currarino Syndrome CRR002
Currarino Triad CRR004
Cushing Syndrome Due to Ectopic Acth Secretion CSH004
Cushing Syndrome Due to Macronodular Adrenal Hyperplasia CSH006
Cushing's Syndrome CSH001
Cutaneous Adenocystic Carcinoma CTN009
Cutaneous Anthrax CTN013
Cutaneous Candidiasis CTN033
Cutaneous Diphtheria CTN005
Cutaneous Fibrous Histiocytoma CTN004
Cutaneous Ganglioneuroma CTN010
Cutaneous Leiomyosarcoma CTN012
Cutaneous Leishmaniasis CTN007
Cutaneous Lupus Erythematosus CTN003
Cutaneous Mastocytoma CTN027
Cutaneous Mastocytosis CTN014
Cutaneous Mucoepidermoid Carcinoma CTN002
Cutaneous Polyarteritis Nodosa CTN019
Cutaneous Porphyria CTN011
Cutaneous Solitary Mastocytoma CTN001
Cutaneous T Cell Lymphoma CTN015
Cutaneous Telangiectasia and Cancer Syndrome, Familial CTN028
Cutis Laxa CTS001
Cutis Laxa, Ad CTS019
Cutis Laxa, Autosomal Dominant CTS008
Cutis Laxa, Autosomal Dominant 2 CTS031
Cutis Laxa, Autosomal Dominant 3 CTS041
Cutis Laxa, Autosomal Recessive Type 1 CTS034
Cutis Laxa, Autosomal Recessive, Type Ia CTS030
Cutis Laxa, Autosomal Recessive, Type Ib CTS037
Cutis Laxa, Autosomal Recessive, Type Ic CTS033
Cutis Laxa, Autosomal Recessive, Type Iia CTS038
Cutis Laxa, Autosomal Recessive, Type Iib CTS023
Cutis Laxa, Autosomal Recessive, Type Iiia CTS029
Cutis Laxa, Autosomal Recessive, Type Iiib CTS032
Cutis Marmorata Telangiectatica Congenita CTS011
Cyanide Poisoning CYN003
Cyanosis, Transient Neonatal CYN002
Cyclic Thrombocytopenia CYC007
Cyclic Vomiting Syndrome CYC008
Cycloplegia CYC001
Cyclosporiasis CYC002
Cyclothymic Disorder CYC005
Cylindromatosis, Familial CYL004
Cyp1a2-Related Altered Drug Metabolism CYP004
Cyp1b1-Related Primary Congenital Glaucoma CYP002
Cyp2b6-Related Altered Drug Metabolism CYP005
Cyp2c19-Related Altered Drug Metabolism CYP006
Cyp2c8-Related Altered Drug Metabolism CYP007
Cyp2c9-Related Altered Drug Metabolism CYP008
Cyp2d6-Related Altered Drug Metabolism CYP009
Cyp3a4-Related Altered Drug Metabolism CYP010
Cyp3a5-Related Altered Drug Metabolism CYP011
Cyp4f2-Related Altered Drug Metabolism CYP012
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis CYP003
Cystadenocarcinoma CYS014
Cystadenofibroma CYS015
Cystadenoma CYS009
Cystathioninuria CYS019
Cystic Angiomatosis of Bone, Diffuse CYS041
Cystic Basal Cell Carcinoma CYS004
Cystic Echinococcosis CYS008
Cystic Fibrosis CYS001
Cystic Kidney Disease CYS039
Cystic Lymphangioma CYS002
Cystic Nephroma CYS007
Cystic Teratoma CYS017
Cysticercosis CYS005
Cystinosis CYS010
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic CYS025
Cystinosis, Nephropathic CYS036
Cystinosis, Ocular Nonnephropathic CYS024
Cystinuria CYS013
Cystitis CYS018
Cystitis Cystica CYS003
Cystoisosporiasis CYS011
Cytochrome P450 Oxidoreductase Deficiency CYT014
Cytogenetically Normal Acute Myeloid Leukemia CYT019
Cytokine Deficiency CYT002
Cytomegalic Congenital Adrenal Hypoplasia CYT020
Cytomegalovirus Infection CYT008
Cytomegalovirus Retinitis CYT005
Cytophagic Histiocytic Panniculitis CYT017
Cytoplasmic Body Myopathy CYT006
Czech Dysplasia CZC002