| Disease Name |
Symbol |
Acronym |
| C-like Syndrome |
CLK001 |
|
| C-reactive Protein Qtl |
CRC013 |
|
| Cadasil |
CDS001 |
|
| Cafe-au-lait Spots |
CFL002 |
|
| Caffey Disease |
CFF003 |
|
| Calcaneonavicular Coalition |
CLC002 |
|
| Calcific Tendinitis |
CLC004 |
|
| Calcification of Joints and Arteries |
CLC017 |
|
| Calcifying Epithelial Odontogenic Tumor |
CLC010 |
CEOT |
| Calcinosis |
CLC006 |
|
| Calciphylaxis |
CLC001 |
|
| Calpainopathy |
CLP001 |
LGMD2 |
| Calvarial Hyperostosis |
CLV004 |
|
| Campomelic Dysplasia |
CMP005 |
CMD1 |
| Campomelic Dysplasia with Autosomal Sex Reversal |
CMP011 |
|
| Camptodactyly 1 |
CMP039 |
|
| Camptodactyly-arthropathy-coxa Vara-pericarditis Syndrome |
CMP012 |
|
| Camptodactyly, Tall Stature, and Hearing Loss Syndrome |
CMP025 |
|
| Campylobacteriosis |
CMP002 |
|
| Camurati-engelmann Disease |
CMR001 |
CED |
| Canavan Disease |
CNV004 |
|
| Cancer Progression/metastasis |
CNC007 |
|
| Candida Glabrata |
CND006 |
|
| Candidiasis |
CND004 |
|
| Candidiasis Familial Chronic Mucocutaneous, Autosomal Recessive |
CND007 |
|
| Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, with or Without Thyroid Disease |
CND013 |
|
| Cannabis Abuse |
CNN002 |
|
| Cannabis Dependence |
CNN001 |
|
| Cap Myopathy |
CPM001 |
|
| Capgras Syndrome |
CPG001 |
|
| Capillariasis |
CPL001 |
|
| Capillary Hemangioma |
CPL006 |
|
| Capillary Leak Syndrome |
CPL003 |
|
| Capillary Malformation-arteriovenous Malformation |
CPL007 |
|
| Capillary Malformations |
CPL008 |
|
| Capillary Malformations, Hereditary |
CPL009 |
|
| Carasil |
CRS003 |
|
| Carbohydrate Metabolic Disorder |
CRB025 |
|
| Carboxylesterase 1 Deficiency |
CRB107 |
|
| Carboxypeptidase N Deficiency |
CRB041 |
|
| Carbuncle |
CRB016 |
|
| Carcinoid Syndrome |
CRC006 |
|
| Carcinoid Tumor of Lung |
CRC004 |
|
| Carcinoid Tumors |
CRC005 |
|
| Carcinoid Tumors, Intestinal |
CRC014 |
|
| Carcinoma |
CRC003 |
|
| Cardia Cancer |
CRD005 |
|
| Cardiac Arrhythmia, Ankyrin-b-related |
CRD054 |
|
| Cardiac Conduction Defect |
CRD132 |
|
| Cardiac Conduction Defect, Nonspecific |
CRD076 |
|
| Cardiac Rupture |
CRD016 |
|
| Cardiac Sarcoidosis |
CRD003 |
|
| Cardiac Tamponade |
CRD001 |
|
| Cardiac Valvular Dysplasia |
CRD008 |
|
| Cardiac Valvular Dysplasia, X-linked |
CRD017 |
CVD1 |
| Cardioencephalomyopathy |
CRD009 |
|
| Cardiofaciocutaneous Syndrome |
CRD013 |
|
| Cardiomyopathy |
CRD011 |
|
| Cardiomyopathy, Dilated 1b |
CRD067 |
|
| Cardiomyopathy, Dilated, 1f |
CRD068 |
|
| Cardiomyopathy, Dilated, 1ff |
CRD064 |
|
| Cardiomyopathy, Dilated, 1g |
CRD080 |
|
| Cardiomyopathy, Dilated, 1gg |
CRD082 |
|
| Cardiomyopathy, Dilated, 1h |
CRD069 |
|
| Cardiomyopathy, Dilated, 1k |
CRD070 |
|
| Cardiomyopathy, Dilated, 1q |
CRD071 |
|
| Cardiomyopathy, Dilated, 1z |
CRD060 |
|
| Cardiomyopathy, Dilated, 2a |
CRD063 |
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
CRD086 |
|
| Cardiomyopathy, Familial Hypertrophic, 10 |
CRD087 |
|
| Cardiomyopathy, Familial Hypertrophic, 11 |
CRD056 |
|
| Cardiomyopathy, Familial Hypertrophic, 12 |
CRD081 |
|
| Cardiomyopathy, Familial Hypertrophic, 13 |
CRD061 |
|
| Cardiomyopathy, Familial Hypertrophic, 14 |
CRD089 |
|
| Cardiomyopathy, Familial Hypertrophic, 15 |
CRD083 |
|
| Cardiomyopathy, Familial Hypertrophic, 2 |
CRD065 |
|
| Cardiomyopathy, Familial Hypertrophic, 3 |
CRD058 |
|
| Cardiomyopathy, Familial Hypertrophic, 4 |
CRD085 |
|
| Cardiomyopathy, Familial Hypertrophic, 7 |
CRD062 |
|
| Cardiomyopathy, Familial Hypertrophic, 8 |
CRD088 |
|
| Cardiomyopathy, Familial Hypertrophic, 9 |
CRD079 |
|
| Cardiomyopathy, Familial Restrictive, 2 |
CRD057 |
|
| Cardiomyopathy, Hypertrophic 6, with Wpw |
CRD084 |
|
| Cardiomyopathy, Hypertrophic, Early-onset Fatal |
CRD066 |
|
| Carney Complex |
CRN008 |
CAR |
| Carney Complex Variant |
CRN038 |
|
| Carney Triad |
CRN055 |
|
| Carnitine Acetyltransferase Deficiency |
CRN039 |
|
| Carnitine Deficiency |
CRN040 |
|
| Carnitine Palmitoyltransferase Ia Deficiency |
CRN105 |
|
| Carnitine-acylcarnitine Translocase Deficiency |
CRN041 |
|
| Carnosinemia |
CRN042 |
|
| Carotid Artery Disease |
CRT016 |
|
| Carotid Artery Dissection |
CRT008 |
|
| Carotid Artery Occlusion |
CRT015 |
|
| Carotid Artery Thrombosis |
CRT004 |
|
| Carotid Body Tumor |
CRT025 |
CBT |
| Carotid Intimal Medial Thickness |
CRT018 |
|
| Carotid Intimal Medial Thickness 1 |
CRT043 |
|
| Carotid Stenosis |
CRT013 |
|
| Carpal Tunnel Syndrome |
CRP001 |
|
| Carpal Tunnel Syndrome, Familial |
CRP017 |
|
| Carpenter Syndrome |
CRP007 |
ACPS2 |
| Carrion's Disease |
CRR001 |
|
| Cartilage Disease |
CRT017 |
|
| Cartilage-hair Hypoplasia |
CRT002 |
CHH |
| Cascade Stomach |
CSC001 |
|
| Caspase-8 Deficiency |
CSP001 |
|
| Castleman's Disease |
CST002 |
|
| Cat Eye Syndrome |
CTY001 |
|
| Cat-scratch Disease |
CTS002 |
|
| Catamenial Pneumothorax |
CTM001 |
|
| Cataract |
CTR002 |
|
| Cataract Congenital Volkmann Type |
CTR010 |
CCV |
| Cataract Mental Retardation Hypogonadism |
CTR013 |
|
| Cataract Microcornea Syndrome |
CTR014 |
|
| Cataract Skeletal Anomalies |
CTR016 |
|
| Cataract with Late-onset Corneal Dystrophy |
CTR044 |
|
| Cataract-glaucoma |
CTR027 |
|
| Cataract, Age-related Cortical |
CTR086 |
|
| Cataract, Autosomal Dominant Nuclear |
CTR062 |
|
| Cataract, Autosomal Dominant, Multiple Types 1 |
CTR047 |
|
| Cataract, Autosomal Recessive Congenital 3 |
CTR055 |
|
| Cataract, Autosomal Recessive, Early-onset, Pulverulent |
CTR059 |
|
| Cataract, Central Saccular, with Sutural Opacities |
CTR052 |
|
| Cataract, Cerulean, Type 1 |
CTR053 |
|
| Cataract, Cerulean, Type 2 |
CTR066 |
|
| Cataract, Congenital Nuclear, 1 |
CTR056 |
|
| Cataract, Congenital Nuclear, 2 |
CTR069 |
|
| Cataract, Congenital Nuclear, Autosomal Recessive 3 |
CTR035 |
|
| Cataract, Congenital Zonular, with Sutural Opacities |
CTR063 |
|
| Cataract, Congenital, Autosomal Recessive |
CTR061 |
|
| Cataract, Congenital, Cerulean Type, 3 |
CTR073 |
|
| Cataract, Coppock-like |
CTR068 |
|
| Cataract, Cortical Pulverulent, Late-onset |
CTR037 |
|
| Cataract, Cortical, Juvenile-onset |
CTR045 |
|
| Cataract, Crystalline Aculeiform |
CTR072 |
|
| Cataract, Juvenile-onset |
CTR046 |
|
| Cataract, Juvenile, with Microcornea and Glucosuria |
CTR076 |
|
| Cataract, Lamellar 2 |
CTR064 |
|
| Cataract, Marner Type |
CTR051 |
|
| Cataract, Nonnuclear Polymorphic Congenital |
CTR074 |
|
| Cataract, Nuclear Progressive |
CTR048 |
|
| Cataract, Nuclear Pulverulent |
CTR049 |
|
| Cataract, Polymorphic and Lamellar |
CTR054 |
|
| Cataract, Posterior Polar, 1 |
CTR021 |
CTPA |
| Cataract, Posterior Polar, 3 |
CTR022 |
CTPP3 |
| Cataract, Posterior Polar, 4 |
CTR023 |
CPP4 |
| Cataract, Posterior Polar, 4, Syndromic |
CTR057 |
|
| Cataract, Posterior Polar, 5 |
CTR024 |
CTPP5 |
| Cataract, Progressive Polymorphic Cortical |
CTR075 |
|
| Cataract, Pulverulent |
CTR065 |
|
| Cataract, Pulverulent or Cerulean, with or Without Microcornea |
CTR043 |
|
| Cataract, Pulverulent, Autosomal Dominant |
CTR078 |
|
| Cataract, Sutural, with Punctate and Cerulean Opacities |
CTR067 |
|
| Cataract, Variable Zonular Pulverulent |
CTR070 |
|
| Cataract, Zonular |
CTR026 |
|
| Cataract, Zonular Central Nuclear, Autosomal Dominant |
CTR060 |
|
| Cataracts, Autosomal Dominant |
CTR039 |
|
| Cataracts, Autosomal Recessive |
CTR040 |
|
| Cataracts, Punctate, Progressive Juvenile-onset |
CTR071 |
|
| Catastrophic Antiphospholipid Syndrome |
CTS005 |
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
CTC001 |
CPVT |
| Catel Manzke Syndrome |
CTL001 |
|
| Cauda Equina Neoplasm |
CDQ003 |
|
| Cauda Equina Syndrome |
CDQ001 |
|
| Caudal Duplication |
CDL002 |
|
| Caudal Regression Syndrome |
CDL003 |
|
| Causalgia |
CSL001 |
|
| Caveolinopathies |
CVL001 |
|
| Cavernous Hemangioma |
CVR006 |
|
| Cavernous Malformation |
CVR010 |
|
| Cavernous Malformations of Cns and Retina |
CVR007 |
|
| Cavernous Sinus Meningioma |
CVR001 |
|
| Cavernous Sinus Thrombosis |
CVR002 |
|
| Cavitary Optic Disc Anomalies |
CVT001 |
|
| Cayler Cardiofacial Syndrome |
CYL001 |
|
| Cblc |
CBL001 |
CBLC |
| Cbld |
CBL002 |
CBLD |
| Cbld (variant 1) |
CBL003 |
|
| Cbld (variant 2) |
CBL004 |
|
| Cble |
CBL005 |
CBLE |
| Cblf |
CBL006 |
CBLF |
| Cblg |
CBL007 |
CBLG |
| Cdags Syndrome |
CDG001 |
|
| Cecum Cancer |
CCM003 |
|
| Celiac Disease |
CLC005 |
SPRUE |
| Celiac Disease 2 |
CLC045 |
|
| Celiac Disease 3 |
CLC048 |
|
| Cell Type Cancer |
CLL013 |
|
| Cellular Leiomyoma |
CLL005 |
|
| Cellular Myxoid Liposarcoma |
CLL004 |
|
| Cellular Schwannoma |
CLL001 |
|
| Cellulitis |
CLL003 |
|
| Central Core Myopathy |
CNT009 |
CCD |
| Central Hypoventilation Syndrome |
CNT048 |
|
| Central Nervous System Cancer |
CNT033 |
|
| Central Nervous System Disease |
CNT035 |
CNS |
| Central Nervous System Germ Cell Tumor |
CNT036 |
|
| Central Nervous System Germinoma |
CNT037 |
|
| Central Nervous System Hemangioblastoma |
CNT072 |
|
| Central Nervous System Leukemia |
CNT018 |
|
| Central Nervous System Lymphoma |
CNT005 |
|
| Central Nervous System Origin Vertigo |
CNT017 |
|
| 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 |
|
| Centrocytic Lymphoma |
CNT049 |
|
| Centronuclear Myopathy |
CNT004 |
|
| Centronuclear Myopathy, Autosomal, Modifier of |
CNT070 |
|
| Centrotemporal Epilepsy |
CNT069 |
|
| Cercarial Dermatitis |
CRC001 |
|
| Cerebellar Agenesis |
CRB053 |
|
| 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 with Mental Retardation |
CRB043 |
|
| Cerebellar Ataxia, Cayman Type |
CRB081 |
|
| Cerebellar Ataxia, Pure |
CRB093 |
|
| Cerebellar Atrophy with Progressive Microcephaly |
CRB044 |
|
| Cerebellar Atrophy, Ataxia, and Mental Retardation |
CRB105 |
|
| Cerebellar Degeneration |
CRB059 |
|
| Cerebellar Disease |
CRB027 |
|
| Cerebellar Hypoplasia |
CRB045 |
|
| Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 |
CRB106 |
|
| Cerebellar Hypoplasia, Mental Retardation, and Quadrupedal Locomotion 2 |
CRB109 |
|
| Cerebellar Liponeurocytoma |
CRB022 |
|
| Cerebellar Medulloblastoma |
CRB028 |
|
| Cerebellopontine Angle Tumor |
CRB029 |
|
| Cerebral Amyloid Angiopathy |
CRB019 |
|
| Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants |
CRB096 |
|
| Cerebral Aneurysms |
CRB086 |
|
| Cerebral Angioma |
CRB014 |
|
| Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |
CRB047 |
|
| Cerebral Arteriosclerosis |
CRB087 |
|
| Cerebral Arteritis |
CRB005 |
|
| Cerebral Artery Occlusion |
CRB004 |
|
| Cerebral Atherosclerosis |
CRB008 |
|
| Cerebral Atrophy |
CRB088 |
|
| Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |
CRB066 |
|
| Cerebral Cavernous Malformations |
CRB048 |
CCM |
| Cerebral Cavernous Malformations 3 |
CRB094 |
|
| Cerebral Cavernous Malformations-1 |
CRB103 |
|
| Cerebral Cavernous Malformations-2 |
CRB102 |
|
| Cerebral Dysgenesis |
CRB049 |
|
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome |
CRB069 |
|
| Cerebral Folate Deficiency |
CRB070 |
|
| Cerebral Hemorrhage |
CRB085 |
|
| Cerebral Hypoxia |
CRB090 |
|
| Cerebral Infarction |
CRB035 |
|
| Cerebral Lipidosis |
CRB018 |
|
| Cerebral Lymphoma |
CRB001 |
|
| Cerebral Malaria |
CRB021 |
CM |
| Cerebral Meningioma |
CRB036 |
|
| Cerebral Palsy |
CRB037 |
|
| Cerebral Palsy, Ataxic, Autosomal Recessive |
CRB108 |
|
| Cerebral Palsy, Spastic Quadriplegic, 3 |
CRB095 |
|
| Cerebral Palsy, Spastic, Symmetric, Autosomal Recessive |
CRB097 |
|
| Cerebral Primitive Neuroectodermal Tumor |
CRB002 |
|
| Cerebritis |
CRB009 |
|
| Cerebro-costo-mandibular Syndrome |
CRB077 |
|
| Cerebrocostomandibular-like Syndrome |
CRB078 |
|
| Cerebrooculofacioskeletal Syndrome |
CRB050 |
|
| Cerebrooculofacioskeletal Syndrome 2 |
CRB098 |
|
| Cerebrooculofacioskeletal Syndrome 3 |
CRB099 |
|
| Cerebrooculofacioskeletal Syndrome 4 |
CRB100 |
|
| Cerebrospinal Fluid Leak |
CRB079 |
|
| Cerebrotendinous Xanthomatosis |
CRB011 |
CTX |
| Cerebrovascular Accident |
CRB111 |
|
| Cerebrovascular Disease |
CRB039 |
|
| Cerebrovascular Disease, Occlusive |
CRB104 |
|
| Ceroid Lipofuscinosis |
CRD012 |
|
| Ceroid Lipofuscinosis Neuronal 1 |
CRD033 |
CLN1 |
| Ceroid Lipofuscinosis Neuronal 10 |
CRD034 |
CLN10 |
| Ceroid Lipofuscinosis Neuronal 2 |
CRD035 |
CLN2 |
| Ceroid Lipofuscinosis Neuronal 5 |
CRD038 |
CLN5 |
| Ceroid Lipofuscinosis Neuronal 6 |
CRD039 |
CLN6 |
| Ceroid Lipofuscinosis Neuronal 7 |
CRD040 |
CLN7 |
| Ceroid Lipofuscinosis Neuronal 8 |
CRD041 |
CLN8 |
| Ceroid Lipofuscinosis Neuronal 9 |
CRD042 |
CLN 9 |
| Ceroid Lipofuscinosis, Neuronal-1, Infantile |
CRD077 |
|
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
CRD075 |
|
| Ceroid Lipofuscinosis, Neuronal, Variant Juvenile Type, with Granular Osmiophilic Deposits |
CRD078 |
|
| Ceroid-lipofuscinosis, Neuronal 2, Classic Late Infantile |
CRD059 |
|
| Ceroid-lipofuscinosis, Neuronal-3, Juvenile |
CRD074 |
|
| Ceroid-lipofuscinosis, Neuronal-5, Variant Late Infantile |
CRD072 |
|
| Ceroid-lipofuscinosis, Neuronal-6, Variant Late Infantile |
CRD073 |
|
| Cerulean Cataract |
CRL001 |
CCA1 |
| Ceruminoma |
CRM002 |
|
| Cervical Adenitis |
CRV030 |
|
| Cervical Adenocarcinoma |
CRV031 |
|
| Cervical Adenoma Malignum |
CRV014 |
|
| Cervical Adenosquamous Carcinoma |
CRV033 |
|
| Cervical Cancer |
CRV035 |
|
| Cervical Cancer, Somatic |
CRV047 |
|
| Cervical Carcinoma |
CRV042 |
|
| Cervical Carcinosarcoma |
CRV036 |
|
| Cervical Dystonia |
CRV043 |
|
| Cervical Incompetence |
CRV025 |
|
| Cervical Intraepithelial Neoplasia |
CRV045 |
CIN |
| Cervical Squamous Cell Carcinoma |
CRV038 |
|
| Cervicitis |
CRV039 |
|
| Cervix Carcinoma |
CRV040 |
|
| Cervix Uteri Carcinoma in Situ |
CRV002 |
|
| Cetp Deficiency |
CTP002 |
|
| Cftr-related Disorders |
CFT001 |
|
| Chagas Disease |
CHG001 |
|
| Chancroid |
CHN002 |
|
| Chand Syndrome |
CHN019 |
|
| Char Syndrome |
CHR101 |
CHAR |
| Charcot-marie-tooth Disease |
CHR071 |
CMT |
| Charcot-marie-tooth Disease Dominant Intermediate 2 |
CHR124 |
|
| Charcot-marie-tooth Disease Dominant Intermediate 3 |
CHR125 |
|
| Charcot-marie-tooth Disease Type 1 |
CHR022 |
|
| Charcot-marie-tooth Disease Type 1a |
CHR129 |
|
| Charcot-marie-tooth Disease Type 1b |
CHR130 |
|
| Charcot-marie-tooth Disease Type 1c |
CHR131 |
|
| Charcot-marie-tooth Disease Type 1d |
CHR132 |
|
| Charcot-marie-tooth Disease Type 1e |
CHR133 |
|
| Charcot-marie-tooth Disease Type 1f |
CHR134 |
|
| Charcot-marie-tooth Disease Type 2 |
CHR023 |
|
| Charcot-marie-tooth Disease Type 2a |
CHR135 |
|
| Charcot-marie-tooth Disease Type 2b |
CHR136 |
|
| Charcot-marie-tooth Disease Type 2b1 |
CHR137 |
|
| Charcot-marie-tooth Disease Type 2b2 |
CHR138 |
|
| Charcot-marie-tooth Disease Type 2c |
CHR139 |
|
| Charcot-marie-tooth Disease Type 2d |
CHR140 |
|
| Charcot-marie-tooth Disease Type 2e |
CHR141 |
|
| Charcot-marie-tooth Disease Type 2f |
CHR142 |
|
| Charcot-marie-tooth Disease Type 2i |
CHR145 |
|
| Charcot-marie-tooth Disease Type 2j |
CHR146 |
|
| Charcot-marie-tooth Disease Type 2k |
CHR147 |
|
| Charcot-marie-tooth Disease Type 3 |
CHR024 |
|
| Charcot-marie-tooth Disease Type 4 |
CHR027 |
DSN |
| Charcot-marie-tooth Disease Type 4b1 |
CHR148 |
|
| Charcot-marie-tooth Disease Type 4b2 |
CHR149 |
|
| Charcot-marie-tooth Disease Type 4e |
CHR151 |
CHN |
| Charcot-marie-tooth Disease Type X |
CHR026 |
|
| Charcot-marie-tooth Disease, Axonal, Type 2l |
CHR353 |
|
| Charcot-marie-tooth Disease, Axonal, Type 2m |
CHR378 |
|
| Charcot-marie-tooth Disease, Axonal, Type 2n |
CHR351 |
|
| Charcot-marie-tooth Disease, Axonal, with Vocal Cord Paresis |
CHR349 |
|
| Charcot-marie-tooth Disease, Dominant Intermediate C |
CHR371 |
|
| Charcot-marie-tooth Disease, Foot Deformity of |
CHR354 |
|
| Charcot-marie-tooth Disease, Type 2a1 |
CHR402 |
|
| Charcot-marie-tooth Disease, Type 2a2 |
CHR357 |
|
| Charcot-marie-tooth Disease, Type 4f |
CHR407 |
|
| Charcot-marie-tooth Disease, X-linked Recessive, 5 |
CHR408 |
|
| Charcot-marie-tooth Neuropathy |
CHR102 |
CMT |
| Charcot-marie-tooth Neuropathy Type 1 |
CHR113 |
CMT1 |
| Charcot-marie-tooth Neuropathy Type 1a |
CHR289 |
|
| Charcot-marie-tooth Neuropathy Type 1b |
CHR290 |
|
| Charcot-marie-tooth Neuropathy Type 2 |
CHR114 |
CMT2 |
| Charcot-marie-tooth Neuropathy Type 2a |
CHR115 |
|
| Charcot-marie-tooth Neuropathy Type 2d |
CHR300 |
|
| Charcot-marie-tooth Neuropathy Type 4 |
CHR117 |
CMT4 |
| Charcot-marie-tooth Neuropathy Type 4a |
CHR118 |
|
| Charcot-marie-tooth Neuropathy Type 4b2 |
CHR310 |
|
| Charcot-marie-tooth Neuropathy Type 4c |
CHR119 |
|
| Charcot-marie-tooth Neuropathy X |
CHR316 |
CMTX |
| Charcot-marie-tooth Neuropathy X Type 1 |
CHR120 |
CMTX1 |
| Charcot-marie-tooth Neuropathy X Type 5 |
CHR121 |
CMTX5 |
| 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 |
|
| Charge Syndrome |
CHR103 |
|
| Charles Bonnet Syndrome |
CHR158 |
CBS |
| Chediak-higashi Syndrome |
CHD001 |
CHS |
| Cheilitis |
CHL056 |
|
| Cherubism |
CHR003 |
CRBM |
| Chester Porphyria |
CHS007 |
PORC |
| Chiari Malformation |
CHR342 |
|
| Chiasmal Syndrome |
CHS002 |
|
| Chickenpox |
CHC001 |
|
| Chikungunya |
CHK001 |
|
| Chilaiditi Syndrome |
CHL076 |
|
| Chilblain Lupus |
CHL092 |
|
| Child Syndrome |
CHL071 |
|
| Childhood Absence Epilepsy |
CHL002 |
|
| Childhood Endodermal Sinus Tumor |
CHL049 |
|
| Childhood Kidney Cell Carcinoma |
CHL010 |
|
| Childhood Kidney Neoplasm |
CHL060 |
|
| Childhood Leukemia |
CHL061 |
|
| Childhood Medulloblastoma |
CHL018 |
|
| Childhood Type Dermatomyositis |
CHL028 |
JDM |
| Childhood-onset Schizophrenia |
CHL078 |
|
| Chitotriosidase Deficiency |
CHT005 |
|
| Chloride Diarrhea |
CHL072 |
|
| Chloride Diarrhea, Congenital, Finnish Type |
CHL095 |
|
| Choanal Atresia |
CHN005 |
|
| Choanal Atresia and Lymphedema |
CHN040 |
|
| Cholangiocarcinoma |
CHL065 |
|
| Cholangiolocellular Carcinoma |
CHL040 |
|
| Cholangitis |
CHL066 |
|
| Cholecystitis |
CHL067 |
|
| Cholecystolithiasis |
CHL013 |
|
| Choledochal Cyst |
CHL052 |
|
| Choledocholithiasis |
CHL039 |
|
| Cholelithiasis |
CHL004 |
|
| Cholera |
CHL014 |
|
| Cholestasis |
CHL068 |
|
| Cholestasis-lymphedema Syndrome |
CHL073 |
|
| Cholestasis, Progressive Canalicular |
CHL096 |
|
| Cholestasis, Progressive Familial Intrahepatic 1 |
CHL080 |
PFIC1 |
| Cholestasis, Progressive Familial Intrahepatic 2 |
CHL081 |
PFIC2 |
| Cholestasis, Progressive Familial Intrahepatic 3 |
CHL082 |
PFIC3 |
| Cholestasis, Progressive Familial Intrahepatic 4 |
CHL083 |
PFIC4 |
| Cholesteatoma |
CHL069 |
|
| Cholesterol |
CHL091 |
|
| Cholesterol Embolism |
CHL070 |
|
| Cholesterol Ester Storage Disease |
CHL050 |
|
| Cholesterol Level Qtl 1 |
CHL094 |
|
| Cholesterol Level Qtl 2 |
CHL093 |
|
| Cholesteryl Ester Storage Disease |
CHL074 |
CESD |
| Cholinergic Urticaria |
CHL035 |
|
| Chondroblastic Osteosarcoma |
CHN003 |
|
| Chondroblastoma |
CHN004 |
|
| Chondrocalcinosis 1 |
CHN021 |
CCAL1 |
| Chondrocalcinosis 2 |
CHN022 |
CCAL2 |
| Chondrocalcinosis with Early-onset Osteoarthritis |
CHN013 |
|
| Chondrodysplasia |
CHN015 |
|
| Chondrodysplasia Blomstrand Type |
CHN025 |
BOCD |
| Chondrodysplasia Punctata |
CHN014 |
|
| Chondrodysplasia Punctata 1, X-linked |
CHN017 |
CDPX1 |
| Chondrodysplasia Punctata 1, X-linked Recessive |
CHN028 |
CPXR |
| Chondrodysplasia Punctata 2 X-linked Dominant |
CHN029 |
CPXD |
| Chondrodysplasia Punctata 2, X-linked |
CHN018 |
CDPX2 |
| Chondrodysplasia Punctata, Tibia Metacarpal Type |
CHN036 |
|
| Chondrodysplasia Punctata, X-linked Recessive |
CHN038 |
|
| Chondroid Chordoma |
CHN009 |
|
| Chondroid Lipoma |
CHN001 |
|
| Chondroma |
CHN010 |
|
| Chondromalacia |
CHN011 |
|
| Chondromalacia Patellae |
CHN006 |
|
| Chondrosarcoma |
CHN012 |
|
| Chordoid Glioma |
CHR033 |
|
| Chordoid Meningioma |
CHR055 |
|
| Chordoma |
CHR072 |
|
| Chorea |
CHR104 |
|
| Chorea and Dementia |
CHR321 |
|
| Choreoacanthocytosis |
CHR105 |
CHAC |
| Choreoathetosis |
CHR106 |
|
| Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress |
CHR322 |
|
| Choreoathetosis/spasticity |
CHR107 |
|
| Choreoathetosis/spasticity, Episodic |
CHR403 |
|
| Chorioamnionitis |
CHR005 |
|
| Chorioangioma |
CHR010 |
|
| Choriocarcinoma |
CHR074 |
|
| Choriocarcinoma of the Testis |
CHR076 |
|
| Choriodal Dystrophy, Central Areolar 2 |
CHR406 |
|
| Chorioretinal Atrophy |
CHR109 |
|
| Chorioretinal Atrophy, Progressive Bifocal |
CHR167 |
CRAPB |
| Chorioretinal Scar |
CHR077 |
|
| Chorioretinitis |
CHR078 |
|
| Choroid Cancer |
CHR410 |
|
| Choroid Plexus Carcinoma |
CHR019 |
|
| Choroid Plexus Papilloma |
CHR029 |
|
| Choroidal Dystrophy |
CHR110 |
|
| Choroidal Sclerosis |
CHR080 |
|
| Choroideremia |
CHR081 |
CHM |
| Choroiditis |
CHR008 |
|
| Chromoblastomycosis |
CHR031 |
|
| Chromophobe Adenocarcinoma |
CHR083 |
|
| Chromophobe Adenoma |
CHR034 |
|
| Chromophobe Renal Cell Carcinoma |
CHR177 |
CRCC |
| Chromosome 16 Trisomy |
CHR200 |
|
| Chromosome 18 Pericentric Inversion |
CHR364 |
|
| Chrondrodysplasia, Acromesomelic, with Genital Anomalies |
CHR347 |
|
| Chronic Active Epstein-barr Virus Infection |
CHR276 |
CEBV |
| Chronic Apical Periodontitis |
CHR013 |
|
| Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature |
CHR277 |
|
| Chronic Berylliosis |
CHR278 |
|
| Chronic Cervicitis |
CHR085 |
|
| Chronic Cholangitis |
CHR036 |
|
| Chronic Conjunctivitis |
CHR086 |
|
| Chronic Cystitis |
CHR087 |
|
| Chronic Dacryocystitis |
CHR060 |
|
| Chronic Endophthalmitis |
CHR059 |
|
| Chronic Eosinophilic Pneumonia |
CHR037 |
|
| Chronic Fatigue Syndrome |
CHR066 |
|
| Chronic Frontal Sinusitis |
CHR040 |
|
| Chronic Graft Versus Host Disease |
CHR417 |
|
| Chronic Granulomatous Disease |
CHR012 |
CGD |
| Chronic Granulomatous Disease Due to Deficiency of Ncf |
CHR112 |
|
| Chronic Granulomatous Disease Due to Deficiency of Ncf-1 |
CHR404 |
|
| Chronic Granulomatous Disease Due to Deficiency of Ncf-2 |
CHR405 |
|
| Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-negative |
CHR338 |
|
| Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba |
CHR370 |
|
| Chronic Granulomatous Disease, X-linked |
CHR340 |
|
| Chronic Infantile Neurological Cutaneous Articular Syndrome |
CHR282 |
CINCA |
| Chronic Infections, Due to Mbl Deficiency |
CHR359 |
|
| Chronic Inflammatory Demyelinating Polyneuritis |
CHR043 |
|
| Chronic Inflammatory Demyelinating Polyneuropathy |
CHR283 |
CIDP |
| Chronic Inflammatory Demyelinating Polyneuropathy (cidp) |
CHR343 |
|
| Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
CHR070 |
|
| Chronic Interstitial Cystitis |
CHR020 |
|
| Chronic Intestinal Vascular Insufficiency |
CHR067 |
|
| Chronic Kidney Failure |
CHR089 |
|
| Chronic Laryngitis |
CHR057 |
|
| Chronic Leukemia |
CHR418 |
|
| Chronic Lymphocytic Leukemia |
CHR090 |
CLL |
| Chronic Maxillary Sinusitis |
CHR038 |
|
| Chronic Meningitis |
CHR091 |
|
| Chronic Monocytic Leukemia |
CHR064 |
|
| Chronic Mucocutaneous Candidiasis |
CHR063 |
|
| Chronic Myeloid Leukemia |
CHR065 |
CML |
| Chronic Myelomonocytic Leukemia |
CHR285 |
|
| Chronic Myeloproliferative Disease |
CHR092 |
CMPD |
| Chronic Myocardial Ischemia |
CHR413 |
|
| Chronic Neutrophilic Leukemia |
CHR286 |
CNL |
| Chronic Nk-cell Lymphocytosis |
CHR068 |
|
| Chronic Obstructive Pulmonary Disease |
CHR409 |
|
| Chronic Pain |
CHR345 |
|
| Chronic Polyneuropathy |
CHR094 |
|
| Chronic Progressive External Ophthalmoplegia |
CHR095 |
PEO |
| Chronic Progressive Multiple Sclerosis |
CHR046 |
|
| Chronic Pulmonary Heart Disease |
CHR096 |
|
| Chronic Purulent Otitis Media |
CHR097 |
|
| Chronic Pyelonephritis |
CHR098 |
|
| Chronic Recurrent Multifocal Osteomyelitis |
CHR288 |
CMO |
| Chronic Rhinitis |
CHR048 |
|
| Chronic Tic Disorder |
CHR056 |
|
| Chronic Tympanitis |
CHR015 |
|
| Chronic Venous Leg Ulcers |
CHR415 |
|
| Chronic Wasting Disease |
CHR028 |
|
| Chudley-lowry Syndrome |
CHD002 |
|
| Churg-strauss Syndrome |
CHR001 |
CSS |
| Chylomicron Retention Disease |
CHY002 |
CMRD |
| Chylomicron Retention Disease with Marinesco-sjogren Syndrome |
CHY003 |
|
| Chylomicronemia Syndrome |
CHY004 |
|
| Chylothorax, Congenital |
CHY005 |
|
| Chylous Ascites |
CHY006 |
|
| Cicatricial Ectropion |
CCT001 |
|
| Cicatricial Entropion |
CCT003 |
|
| Cicatricial Pemphigoid |
CCT002 |
|
| Ciliary Dyskinesia |
CLR020 |
|
| Ciliary Dyskinesia, Primary, 1, with Our Without Situs Inversus |
CLR058 |
|
| Ciliary Dyskinesia, Primary, 10 |
CLR056 |
|
| Ciliary Dyskinesia, Primary, 11 |
CLR053 |
|
| Ciliary Dyskinesia, Primary, 12 |
CLR054 |
|
| Ciliary Dyskinesia, Primary, 13 |
CLR059 |
|
| Ciliary Dyskinesia, Primary, 2 |
CLR066 |
|
| Ciliary Dyskinesia, Primary, 3, with or Without Situs Inversus |
CLR057 |
|
| Ciliary Dyskinesia, Primary, 5 |
CLR068 |
|
| Ciliary Dyskinesia, Primary, 6 |
CLR042 |
|
| Ciliary Dyskinesia, Primary, 7, with out Without Situs Inversus |
CLR060 |
|
| Ciliary Dyskinesia, Primary, 9, with Our Without Situs Inversus |
CLR061 |
|
| Cinca Syndrome |
CNC002 |
|
| Cinnamon Odor, Pleasantness of |
CNN008 |
|
| Cirrhosis Due to Liver Phosphorylase Kinase Deficiency |
CRR006 |
|
| Cirrhosis, Cryptogenic |
CRR007 |
|
| Cirrhosis, Noncryptogenic |
CRR011 |
|
| Citrin Deficiency |
CTR003 |
|
| Citrullinemia |
CTR001 |
CIT |
| Classic Fabry Disease |
CLS011 |
|
| Classic Kaposi Sarcoma |
CLS007 |
HHV8 |
| Classic Pulmonary Blastoma |
CLS002 |
|
| Classic Rett Syndrome |
CLS012 |
|
| Clear Cell Acanthoma |
CLR001 |
|
| Clear Cell Adenocarcinoma |
CLR003 |
|
| Clear Cell Adenoma |
CLR014 |
|
| Clear Cell Chondrosarcoma |
CLR005 |
|
| Clear Cell Ependymoma |
CLR011 |
|
| Clear Cell Hidradenoma |
CLR013 |
|
| Clear Cell Meningioma |
CLR018 |
|
| Clear Cell Renal Cell Carcinoma |
CLR030 |
|
| Clear Cell Sarcoma |
CLR017 |
|
| Cleft Lip |
CLF001 |
|
| Cleft Lip +/- Cleft Palate |
CLF025 |
|
| Cleft Lip/palate |
CLF004 |
|
| Cleft Lip/palate Ectodermal Dysplasia Syndrome |
CLF003 |
|
| Cleft Palate |
CLF002 |
|
| Cleft Palate and Mental Retardation |
CLF029 |
|
| Cleft Palate Lateral Synechia Syndrome |
CLF018 |
|
| Cleft Palate with Ankyloglossia |
CLF005 |
|
| Cleft Palate, Isolated |
CLF027 |
|
| Cleidocranial Dysplasia |
CLD001 |
CLCD |
| Clivus Chordoma |
CLV002 |
|
| Cll/sll |
CLL014 |
|
| Cloacal Exstrophy |
CLC011 |
|
| Cloacogenic Carcinoma |
CLC003 |
|
| Clonorchiasis |
CLN003 |
|
| Clopidogrel, Impaired Responsiveness to |
CLP003 |
|
| Clostridium Difficile |
CLS008 |
|
| Clostridium Sordellii |
CLS009 |
|
| Clouston Syndrome |
CLS005 |
ED2 |
| Clubfoot |
CLB002 |
|
| Cluster Headache |
CLS010 |
|
| Cluttering |
CLT002 |
|
| Cns Lymphoma |
CNS006 |
|
| Coach Syndrome |
CCH002 |
|
| Coats Disease |
CTS003 |
|
| Cocaine Abuse |
CCN002 |
|
| Cocaine Dependence |
CCN001 |
|
| Coccidioidomycosis |
CCC001 |
|
| Coccidiosis |
CCC002 |
|
| Cochlear Disease |
CCH001 |
|
| Cockayne Syndrome |
CCK001 |
CS |
| Cockayne Syndrome Type Ii |
CCK003 |
|
| Cocoon Syndrome |
CCN007 |
|
| Codeine Sensitivity |
CDN001 |
|
| Coffin-lowry Syndrome |
CFF002 |
CLS |
| Coffin-siris Syndrome |
CFF001 |
|
| Cogan's Syndrome |
CGN002 |
|
| Cohen Syndrome |
CHN016 |
COH1 |
| Colchicine Resistance |
CLC008 |
|
| Cold Agglutinin Disease |
CLD007 |
CAD |
| Cold-induced Autoinflammatory Syndrome |
CLD002 |
|
| Cold-induced Autoinflammatory Syndrome, Familial |
CLD009 |
|
| Cold-induced Sweating Syndrome |
CLD003 |
CISS |
| Collagen Disease |
CLL015 |
|
| Collagen Type Vi-related Disorders |
CLL018 |
|
| Collagenous Colitis |
CLL021 |
|
| Collagenous Gastritis |
CLL026 |
|
| Collecting Duct Carcinoma |
CLL002 |
CDC |
| Colloid Cysts of Third Ventricle |
CLL024 |
|
| Coloboma |
CLB001 |
|
| Coloboma of Iris |
CLB009 |
|
| Coloboma of Optic Nerve |
CLB003 |
|
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome |
CLB017 |
|
| Colon Adenocarcinoma |
CLN015 |
|
| Colon Cancer |
CLN016 |
|
| Colon Cancer, Advanced |
CLN028 |
|
| Colon Cancer, Hereditary Nonpolyposis, Type 7 |
CLN027 |
|
| Colon Cancer, Somatic |
CLN030 |
|
| Colon Carcinoma |
CLN017 |
|
| Colon Carcinoma in Situ |
CLN004 |
|
| Colon Mucinous Adenocarcinoma |
CLN002 |
|
| Colonic Adenoma Recurrence, Reduced Risk of |
CLN029 |
|
| Colonic Aganglionosis |
CLN021 |
|
| Colonic Disease |
CLN019 |
|
| Colonic Neoplasm |
CLN020 |
|
| Colonic Polyps |
CLN025 |
|
| Colonic Pseudo-obstruction |
CLN006 |
|
| Color Blindness |
CLR019 |
|
| Color Vision Deficiency |
CLR033 |
|
| Colorado Tick Fever |
CLR007 |
|
| Colorblindness, Deutan |
CLR063 |
|
| Colorblindness, Protan |
CLR062 |
|
| Colorblindness, Tritan |
CLR064 |
|
| Colorectal Adenoma and Carcinoma |
CLR021 |
|
| Colorectal Adenomatous Polyposis |
CLR022 |
|
| Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas |
CLR065 |
|
| Colorectal Cancer |
CLR023 |
|
| Colorectal Cancer 1 |
CLR085 |
|
| Colorectal Cancer 2 |
CLR079 |
|
| Colorectal Cancer 5 |
CLR080 |
|
| Colorectal Cancer 8 |
CLR083 |
|
| Colorectal Cancer with Chromosomal Instability |
CLR024 |
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 1 |
CLR070 |
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
CLR041 |
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 3 |
CLR038 |
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
CLR039 |
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
CLR037 |
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
CLR055 |
|
| Colorectal Cancer, Somatic |
CLR034 |
|
| Colostrum Secretion, Variation in |
CLS013 |
|
| Colpocephaly |
CLP002 |
|
| Combined Cellular and Humoral Immune Defects with Granulomas |
CMB022 |
|
| Combined Factor V and Viii Deficiency |
CMB005 |
|
| Combined Hyperlipemia |
CMB006 |
|
| Combined Immunodeficiency |
CMB007 |
|
| 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 2 |
CMB013 |
|
| Combined Oxidative Phosphorylation Deficiency 3 |
CMB014 |
|
| 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 Pituitary Hormone Deficiency |
CMB021 |
CPHD |
| Combined Sap Deficiency |
CMB009 |
|
| Combined Saposin Deficiency |
CMB020 |
PSAPD |
| Common Cold |
CMM005 |
|
| Common Variable Immunodeficiency |
CMM004 |
CVID |
| Common Wart |
CMM003 |
|
| Communicating Hydrocephalus |
CMM008 |
|
| Communication Disorder |
CMM009 |
|
| Compartment Syndrome |
CMP008 |
|
| Complement Component 2 Deficiency |
CMP028 |
|
| Complement Component 4, Partial Deficiency of |
CMP040 |
|
| Complement Component 5 Deficiency |
CMP007 |
|
| Complement Component 8 Deficiency Type 1 |
CMP029 |
|
| Complement Component 8 Deficiency Type 2 |
CMP030 |
|
| Complement Component Receptor 1 |
CMP032 |
|
| Complement Deficiency |
CMP009 |
|
| Complement Factor D Deficiency |
CMP041 |
|
| Complement Factor H Deficiency |
CMP042 |
|
| Complement Factor I Deficiency |
CMP004 |
|
| Complete Androgen Insensitivity Syndrome |
CMP034 |
CAIS |
| Complete Atrioventricular Canal |
CMP035 |
CAVC |
| Complex Glycerol Kinase Deficiency |
CMP037 |
|
| Complex Partial Epilepsy |
CMP006 |
|
| Complex Regional Pain Syndrome |
CMP010 |
CRPS |
| Complex V |
CMP014 |
|
| Composite Lymphoma |
CMP001 |
|
| Compton-north Congenital Myopathy |
CMP050 |
|
| Conduct Disorder |
CND002 |
|
| Conduction Disease |
CND017 |
|
| Cone Dystrophy |
CND005 |
|
| Cone Dystrophy 3 |
CND011 |
COD3 |
| Cone Dystrophy 4 |
CND012 |
|
| Cone Dystrophy, Progressive X-linked, 2 |
CND015 |
|
| Cone-rod Dystrophy |
CNR002 |
|
| Cone-rod Dystrophy 1 |
CNR003 |
CORD1 |
| Cone-rod Dystrophy 10 |
CNR021 |
|
| Cone-rod Dystrophy 11 |
CNR012 |
|
| Cone-rod Dystrophy 12 |
CNR013 |
|
| Cone-rod Dystrophy 13 |
CNR024 |
|
| Cone-rod Dystrophy 14 |
CNR019 |
|
| Cone-rod Dystrophy 15 |
CNR025 |
|
| Cone-rod Dystrophy 2 |
CNR004 |
CRD2 |
| Cone-rod Dystrophy 3 |
CNR005 |
CORD3 |
| Cone-rod Dystrophy 4 |
CNR015 |
COD4 |
| Cone-rod Dystrophy 5 |
CNR006 |
CORD5 |
| Cone-rod Dystrophy 6 |
CNR007 |
CORD6 |
| Cone-rod Dystrophy 7 |
CNR016 |
CORD7 |
| Cone-rod Dystrophy 8 |
CNR023 |
|
| Cone-rod Dystrophy 9 |
CNR017 |
CORD9 |
| Cone-rod Dystrophy Amelogenesis Imperfecta |
CNR008 |
|
| Cone-rod Dystrophy X-linked 3 |
CNR011 |
|
| Cone-rod Retinal Dystrophy-1 |
CNR022 |
|
| Congenital Absence of the Vas Deferens |
CNG039 |
CAVD |
| Congenital Adrenal Insufficiency |
CNG007 |
|
| Congenital Afibrinogenemia |
CNG019 |
|
| Congenital Amegakaryocytic Thrombocytopenia |
CNG052 |
CAMT |
| Congenital Amputation |
CNG053 |
|
| Congenital Anosmia |
CNG055 |
ANIC |
| Congenital Antithrombin Deficiency |
CNG056 |
|
| Congenital Aortic Valve Stenosis |
CNG009 |
|
| Congenital Aphakia |
CNG005 |
CPA |
| Congenital Aural Atresia |
CNG219 |
|
| Congenital Bilateral Absence of Vas Deferens |
CNG035 |
CAVD |
| Congenital Bile Acid Synthesis Defect |
CNG002 |
|
| Congenital Cataracts |
CNG036 |
|
| Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
CNG041 |
CCFDN |
| Congenital Central Hypoventilation Syndrome |
CNG042 |
CCHS |
| Congenital Chloride Diarrhea |
CNG064 |
CLD |
| Congenital Contractural Arachnodactyly |
CNG043 |
CCA |
| Congenital Contractures |
CNG065 |
|
| Congenital Cytomegalovirus |
CNG069 |
|
| Congenital Diaphragmatic Hernia |
CNG015 |
CDH |
| Congenital Disorder of Glycosylation |
CNG025 |
CDG |
| Congenital Disorder of Glycosylation Type 1b |
CNG071 |
|
| Congenital Disorder of Glycosylation Type 1c |
CNG072 |
CDGS5 |
| Congenital Disorder of Glycosylation Type 1d |
CNG073 |
CDGS4 |
| Congenital Disorder of Glycosylation Type 1e |
CNG074 |
|
| Congenital Disorder of Glycosylation Type 1f |
CNG075 |
|
| Congenital Disorder of Glycosylation Type 1g |
CNG076 |
|
| Congenital Disorder of Glycosylation Type 1h |
CNG077 |
|
| Congenital Disorder of Glycosylation Type 1i |
CNG078 |
|
| Congenital Disorder of Glycosylation Type 1j |
CNG079 |
|
| Congenital Disorder of Glycosylation Type 1k |
CNG080 |
|
| Congenital Disorder of Glycosylation Type 1l |
CNG081 |
|
| Congenital Disorder of Glycosylation Type 2a |
CNG082 |
CDGS2 |
| Congenital Disorder of Glycosylation Type 2c |
CNG084 |
LAD2 |
| Congenital Disorder of Glycosylation Type 2d |
CNG085 |
|
| Congenital Disorder of Glycosylation Type 2e |
CNG086 |
|
| Congenital Disorder of Glycosylation Type 2g |
CNG087 |
|
| Congenital Disorder of Glycosylation Type I |
CNG013 |
|
| Congenital Disorder of Glycosylation Type Ii |
CNG011 |
|
| Congenital Dyserythropoietic Anemia |
CNG003 |
CDA |
| Congenital Dyserythropoietic Anemia Ii |
CNG037 |
CDAN2 |
| Congenital Dyserythropoietic Anemia Type I |
CNG045 |
|
| Congenital Epilepsy |
CNG186 |
|
| Congenital Epulis |
CNG004 |
|
| Congenital Erythropoietic Porphyria |
CNG040 |
CEP |
| Congenital Fiber-type Disproportion |
CNG046 |
CFTD |
| Congenital Fibrosarcoma |
CNG023 |
|
| Congenital Fibrosis of the Extraocular Muscles |
CNG047 |
CFEOM |
| Congenital Generalized Lipodystrophy |
CNG012 |
BSCL |
| Congenital Generalized Lipodystrophy Type 1 |
CNG094 |
BSCL1 |
| Congenital Generalized Lipodystrophy Type 2 |
CNG095 |
BSCL2 |
| Congenital Generalized Lipodystrophy Type 4 |
CNG096 |
CGL4 |
| Congenital Granular Cell Tumor |
CNG022 |
|
| Congenital Heart Block |
CNG018 |
|
| Congenital Heart Defect |
CNG026 |
|
| Congenital Heart Defects, Nonsyndromic, 1, X-linked |
CNG175 |
|
| Congenital Heart Disease, Nonsyndromic, 2 |
CNG176 |
|
| Congenital Hemolytic Anemia |
CNG027 |
|
| Congenital Hepatic Fibrosis |
CNG048 |
CHF |
| Congenital Hereditary Endothelial Dystrophy of Cornea |
CNG038 |
|
| Congenital Hereditary Endothelial Dystrophy of Cornea, Autosomal Dominant |
CNG177 |
|
| Congenital Hypogammaglobulinemia |
CNG020 |
|
| Congenital Hypomyelination Neuropathy |
CNG102 |
|
| Congenital Hypoplastic Anemia |
CNG028 |
|
| Congenital Hypothyroidism |
CNG006 |
CH |
| Congenital Ichthyosiform Erythroderma |
CNG008 |
LI |
| Congenital Indifference to Pain, Autosomal Recessive |
CNG154 |
|
| Congenital Intrinsic Factor Deficiency |
CNG016 |
|
| Congenital Lactase Deficiency |
CNG155 |
|
| Congenital Mesoblastic Nephroma |
CNG029 |
|
| Congenital Mitral Regurgitation |
CNG014 |
|
| Congenital Muscular Dystrophy |
CNG030 |
CMD |
| Congenital Muscular Dystrophy Type 1a |
CNG112 |
|
| Congenital Myasthenic Syndrome |
CNG001 |
CMS |
| Congenital Myasthenic Syndrome with Episodic Apnea |
CNG114 |
FIM |
| Congenital Myotonic Dystrophy |
CNG115 |
|
| Congenital Nephrotic Syndrome Finnish Type |
CNG116 |
CNF |
| Congenital Neuromuscular Disease with Uniform Type 1 Fiber |
CNG160 |
|
| Congenital Nonspherocytic Hemolytic Anemia |
CNG017 |
|
| Congenital Nystagmus |
CNG024 |
|
| Congenital Plasminogen Deficiency |
CNG171 |
|
| Congenital Pulmonary Alveolar Proteinosis |
CNG121 |
|
| Congenital Rubella |
CNG124 |
CRS |
| Congenital Stationary Night Blindness |
CNG010 |
|
| Congenital Stationary Night Blindness, Type 1b |
CNG167 |
|
| Congenital Stationary Night Blindness, Type 1c |
CNG168 |
|
| Congenital Stationary Night Blindness, Type 1d |
CNG222 |
|
| Congenital Stationary Night Blindness, Type 2b |
CNG169 |
|
| Congenital Stromal Corneal Dystrophy |
CNG049 |
CSCD |
| Congenital Sucrase-isomaltase Deficiency |
CNG127 |
CSID |
| Congenital Syphilis |
CNG033 |
|
| Congenital Toxoplasmosis |
CNG021 |
|
| Congestive Heart Failure |
CNG034 |
CHF |
| Congestive Heart Failure and Beta-blocker Response, Modifier of |
CNG173 |
|
| Congestive Heart Failure and Beta-blocker Response, Modifier of (3) 19 |
CNG174 |
|
| Conidiobolomycosis |
CND001 |
|
| Conjugate Gaze Palsy |
CNJ001 |
|
| Conjunctival Disease |
CNJ012 |
|
| Conjunctivitis |
CNJ013 |
|
| Conjunctivitis Ligneous |
CNJ014 |
|
| Conjunctivochalasis |
CNJ007 |
|
| Conn's Syndrome |
CNN003 |
|
| Connective Tissue Disease |
CNN005 |
|
| Conotruncal Anomaly Face Syndrome |
CNT050 |
CTAF |
| Conotruncal Heart Malformations |
CNT061 |
CTHM |
| Constipation |
CNS004 |
|
| Constrictive Pericarditis |
CNS002 |
|
| Contact Dermatitis |
CNT047 |
|
| Contagious Pustular Dermatitis |
CNT001 |
ORF |
| Contractural Arachnodactyly |
CNT051 |
|
| Conversion Disorder |
CNV002 |
FND |
| Convulsions |
CNV008 |
|
| Convulsions, Benign Familial Infantile, 4 |
CNV013 |
|
| Convulsions, Familial Febrile, 1 |
CNV014 |
|
| Convulsions, Familial Febrile, 2 |
CNV015 |
|
| Convulsions, Familial Febrile, 4 |
CNV011 |
|
| Convulsions, Infantile and Paroxysmal Choreoathetosis |
CNV016 |
|
| Copd |
CPD001 |
|
| Copd, Rate of Decline of Lung Function in |
CPD002 |
|
| Coproporphyria |
CPR001 |
|
| Cor Pulmonale |
CRP018 |
|
| Cornea Plana Congenita |
CRN043 |
|
| Cornea Plana Congenita, Recessive |
CRN136 |
|
| Corneal Abscess |
CRN004 |
|
| Corneal Clouding |
CRN044 |
|
| Corneal Clouding, Autosomal Recessive |
CRN117 |
|
| Corneal Degeneration |
CRN022 |
|
| Corneal Deposit |
CRN023 |
|
| Corneal Disease |
CRN024 |
|
| Corneal Dystrophy |
CRN025 |
|
| Corneal Dystrophy and Perceptive Deafness |
CRN045 |
CDPD |
| Corneal Dystrophy Avellino Type |
CRN061 |
CDA |
| Corneal Dystrophy Crystalline of Schnyder |
CRN062 |
SCCD |
| Corneal Dystrophy Fuchs Endothelial 1 |
CRN063 |
FECD1 |
| Corneal Dystrophy of Bowman Layer Type 1 |
CRN065 |
CDB1 |
| Corneal Dystrophy Polymorphous Posterior, 2 |
CRN137 |
|
| Corneal Dystrophy Thiel Behnke Type |
CRN067 |
CDB2 |
| Corneal Dystrophy, Endothelial, X-linked |
CRN128 |
|
| 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, Late Onset 1 |
CRN119 |
|
| Corneal Dystrophy, Hereditary Polymorphous Posterior |
CRN154 |
|
| Corneal Dystrophy, Lisch Epithelial |
CRN126 |
|
| Corneal Dystrophy, Posterior Polymorphous, 3 |
CRN146 |
|
| Corneal Ectasia |
CRN009 |
|
| Corneal Edema |
CRN026 |
|
| Corneal Endothelial Dystrophy 2, Autosomal Recessive |
CRN107 |
CHED2 |
| Corneal Endothelial Dystrophy and Perceptive Deafness |
CRN142 |
|
| Corneal Endothelial Dystrophy Type 2 |
CRN068 |
CHED2 |
| Corneal Fleck Dystrophy |
CRN046 |
|
| Corneal Granular Dystrophy |
CRN010 |
|
| Corneal Neovascularization |
CRN027 |
|
| Corneal Staphyloma |
CRN007 |
|
| Corneal Ulcer |
CRN028 |
|
| Cornelia De Lange Syndrome |
CRN015 |
BDLS |
| Coronary Aneurysm |
CRN006 |
|
| Coronary Arteriosclerosis |
CRN029 |
|
| Coronary Artery Aneurysm |
CRN074 |
|
| Coronary Artery Anomaly |
CRN018 |
|
| Coronary Artery Disease in Familial Hypercholesterolemia, Protection Against |
CRN127 |
|
| Coronary Artery Disease, Autosomal Dominant, 1 |
CRN133 |
|
| Coronary Artery Disease, Autosomal Dominant, 2 |
CRN123 |
|
| Coronary Artery Disease, Modifier of |
CRN131 |
|
| Coronary Artery Disease, Resistance to |
CRN144 |
|
| Coronary Artery Spasm 1 |
CRN181 |
|
| Coronary Artery Spasm 2 |
CRN182 |
|
| Coronary Artery Spasm 3 |
CRN180 |
|
| Coronary Artery Vasospasm |
CRN019 |
|
| Coronary Heart Disease |
CRN157 |
CHD |
| Coronary Heart Disease 2 |
CRN174 |
|
| Coronary Heart Disease 3 |
CRN172 |
|
| Coronary Restenosis |
CRN020 |
|
| Coronary Stenosis |
CRN030 |
|
| Coronary Thrombosis |
CRN017 |
|
| Corpus Callosum |
CRP005 |
|
| Corpus Callosum Agenesis |
CRP010 |
|
| Corpus Luteum Cyst |
CRP004 |
|
| Cortical Blindness |
CRT012 |
|
| Cortical Dysplasia-focal Epilepsy Syndrome |
CRT037 |
|
| Cortical Dysplasia, Complex, with Other Brain Malformations |
CRT036 |
CDCBM |
| Corticobasal Degeneration |
CRT033 |
CBGD |
| Corticosteroid-binding Globulin Deficiency |
CRT046 |
|
| Cortisol Resistance |
CRT019 |
|
| Cortisone Reductase Deficiency |
CRT020 |
|
| Costello Syndrome |
CST001 |
|
| Cough Variant Asthma |
CGH001 |
|
| Coumarin Resistance |
CMR002 |
|
| Cousin Syndrome |
CSN001 |
|
| Cowchock Syndrome |
CWC001 |
NADMR |
| Cowden Disease |
CWD001 |
|
| Cowden-like Syndrome |
CWD002 |
|
| Cowpox |
CWP001 |
YABA |
| Cpt Deficiency |
CPT001 |
|
| Cpt Deficiency, Hepatic, Type Ia |
CPT003 |
|
| Cpt Deficiency, Hepatic, Type Ii |
CPT004 |
|
| Cpt Ii Deficiency |
CPT002 |
CPT2 |
| Cpt Ii Deficiency, Lethal Neonatal |
CPT005 |
|
| Cramp-fasciculations Syndrome |
CRM006 |
|
| Cramps |
CRM004 |
|
| Cramps, Familial, Potassium-aggravated |
CRM009 |
|
| Crane-heise Syndrome |
CRN076 |
|
| Cranial Nerve Palsy |
CRN035 |
|
| Craniodiaphyseal Dysplasia |
CRN013 |
CDD |
| Cranioectodermal Dysplasia 2 |
CRN109 |
CED2 |
| Cranioectodermal Dysplasia 3 |
CRN110 |
|
| Craniofacial Abnormalities |
CRN114 |
|
| Craniofacial Anomalies |
CRN047 |
|
| Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells |
CRN155 |
|
| Craniofacial-deafness-hand Syndrome |
CRN048 |
CDHS |
| Craniofacioskeletal Syndrome |
CRN156 |
|
| Craniofrontonasal Syndrome |
CRN005 |
CFND |
| Craniolenticulosutural Dysplasia |
CRN049 |
|
| Craniometaphyseal Dysplasia |
CRN012 |
CMD |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
CRN052 |
CMD |
| Craniopharyngioma |
CRN036 |
|
| Craniorachischisis |
CRN088 |
|
| Craniosynostosis |
CRN037 |
CSO |
| Craniosynostosis, Anal Anomalies, and Porokeratosis |
CRN102 |
|
| Craniosynostosis, Nonspecific |
CRN118 |
|
| Craniosynostosis, Syndromic |
CRN113 |
|
| Crash Syndrome |
CRS002 |
|
| Creatine Deficiency Syndrome |
CRT021 |
|
| Creatine Kinase, Brain Type, Ectopic Expression of |
CRT047 |
|
| Creatine Phosphokinase |
CRT022 |
|
| Creatine Phosphokinase, Elevated Serum |
CRT045 |
|
| Creatinine Clearance Qtl |
CRT023 |
|
| Crescentic Glomerulonephritis |
CRS001 |
|
| Crest Syndrome |
CRS005 |
|
| Creutzfeldt-jakob Disease, Variant, Resistance to |
CRT044 |
|
| Creutzfeldt-jakob Syndrome |
CRT014 |
CJD |
| Cri-du-chat Syndrome |
CRD002 |
|
| Cribriform Carcinoma |
CRB006 |
|
| Crigler Najjar Syndrome, Type 2 |
CRG002 |
|
| Crigler-najjar Syndrome |
CRG001 |
|
| Crimean-congo Hemorrhagic Fever |
CRM001 |
|
| Crisponi Syndrome |
CRS006 |
|
| Critical Illness Polyneuropathy |
CRT009 |
|
| Critical Limb Ischemia |
CRT049 |
CLI |
| Crohn Disease-associated Growth Failure |
CRH004 |
|
| Crohn's Disease |
CRH001 |
|
| Cronkhite-canada Syndrome |
CRN014 |
|
| Croup |
CRP002 |
CROUP |
| Crouzon Syndrome |
CRZ001 |
CFD1 |
| Crouzon Syndrome with Acanthosis Nigricans |
CRZ002 |
|
| Crouzonodermoskeletal Syndrome |
CRZ003 |
|
| Cryofibrinogenemia |
CRY006 |
|
| Cryoglobulinemia |
CRY004 |
|
| Cryopyrin-associated Periodic Syndrome |
CRY008 |
CAPS |
| Cryptococcosis |
CRY005 |
|
| Cryptogenic Organizing Pneumonia |
CRY001 |
COP |
| Cryptophthalmos |
CRY010 |
|
| Cryptorchidism |
CRY002 |
|
| Cryptorchidism, Bilateral |
CRY013 |
|
| Cryptorchidism, Idiopathic |
CRY012 |
|
| Cryptosporidiosis |
CRY003 |
|
| Cubitus Valgus with Mental Retardation and Unusual Facies |
CBT001 |
|
| Currarino Syndrome |
CRR002 |
|
| Cushing's Symphalangism |
CSH003 |
|
| Cushing's Syndrome |
CSH001 |
|
| Cutaneous Adenocystic Carcinoma |
CTN009 |
|
| Cutaneous Anthrax |
CTN013 |
|
| Cutaneous Fibrous Histiocytoma |
CTN004 |
|
| Cutaneous Ganglioneuroma |
CTN010 |
|
| Cutaneous Leiomyosarcoma |
CTN012 |
|
| Cutaneous Leishmaniasis |
CTN007 |
|
| Cutaneous Lupus Erythematosus |
CTN003 |
|
| Cutaneous Malignant Melanoma |
CTN021 |
M-CM |
| Cutaneous Mastocytosis |
CTN014 |
CM |
| Cutaneous Mucoepidermoid Carcinoma |
CTN002 |
|
| Cutaneous Mycosis |
CTN024 |
|
| Cutaneous Necrotizing Vasculitis |
CTN017 |
CNV |
| Cutaneous Polyarteritis Nodosa |
CTN019 |
|
| Cutaneous Porphyria |
CTN011 |
|
| Cutaneous T Cell Lymphoma |
CTN015 |
CTCL |
| Cutis Laxa |
CTS001 |
|
| Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities |
CTS015 |
URDS |
| Cutis Laxa, Ad |
CTS019 |
|
| Cutis Laxa, Autosomal Dominant |
CTS008 |
|
| Cutis Laxa, Autosomal Recessive Type 2a |
CTS009 |
|
| Cutis Laxa, Autosomal Recessive Type 2b |
CTS010 |
|
| Cutis Laxa, Autosomal Recessive, Type Ii |
CTS017 |
|
| Cutis Laxa, Marfanoid Neonatal Type |
CTS020 |
|
| Cutis Marmorata Telangiectatica Congenita |
CTS011 |
CMTC |
| Cyclic Hematopoiesis |
CYC004 |
|
| Cyclic Ichthyosis with Epidermolytic Hyperkeratosis |
CYC006 |
|
| Cyclic Thrombocytopenia |
CYC007 |
|
| Cyclic Vomiting Syndrome |
CYC008 |
CVS |
| Cycloplegia |
CYC001 |
|
| Cyclosporiasis |
CYC002 |
|
| Cylindromatosis |
CYL002 |
|
| Cyst of Thyroid |
CYS028 |
|
| Cystadenocarcinoma |
CYS014 |
|
| Cystadenoma |
CYS009 |
|
| Cystathioninuria |
CYS019 |
|
| Cystic Adenomatoid Malformation of Lung |
CYS021 |
|
| Cystic Echinococcosis |
CYS008 |
|
| Cystic Fibrosis |
CYS001 |
CF |
| Cystic Fibrosis Lung Disease |
CYS020 |
|
| Cystic Fibrosis Lung Disease, Modifier of |
CYS027 |
|
| Cystic Kidney |
CYS016 |
|
| Cystic Lymphangioma |
CYS002 |
|
| Cystic Nephroma |
CYS007 |
|
| Cystic Teratoma |
CYS017 |
|
| Cysticercosis |
CYS005 |
|
| Cystinosis |
CYS010 |
|
| Cystinosis, Atypical Nephropathic |
CYS026 |
|
| Cystinosis, Late-onset Juvenile or Adolescent Nephropathic |
CYS025 |
|
| Cystinosis, Ocular Nonnephropathic |
CYS024 |
|
| Cystinuria |
CYS013 |
CSNU |
| Cystitis |
CYS018 |
|
| Cystoid Macular Edema |
CYS006 |
|
| Cystoisosporiasis |
CYS011 |
|
| Cytokine Receptor Deficiency |
CYT003 |
|
| Cytomegalovirus Infection |
CYT008 |
|
| Cytomegalovirus Retinitis |
CYT005 |
|
| Cytoplasmic Body Myopathy |
CYT006 |
|
| Czech Dysplasia |
CZC002 |
|
| Czech Dysplasia Metatarsal Type |
CZC001 |
|
