Disease Name Symbol Acronym
C Syndrome CSY001 CSYN
C1 Inhibitor Deficiency C1N001
C12orf65-Related Combined Oxidative Phosphorylation Defect C12001
C1q Deficiency C1Q001 C1QD
C1q Nephropathy C1Q005
C3 Glomerulopathy C3G002 DDD
C3hex, Ability to Smell C3H001
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia C9R002
Cafe-Au-Lait Spots, Multiple CFL005 NF6
Caffey Disease CFF003 CAFYD
Cahmr Syndrome CHM001
Cakut CKT002 CAKUT
Calabro Syndrome CLB004
Calcific Aortic Disease with Immunologic Abnormalities, Familial CLC061
Calcific Tendinitis CLC004
Calcification of Joints and Arteries CLC017 CALJA
Calcifying Aponeurotic Fibroma CLC064
Calcifying Epithelial Odontogenic Tumor CLC010 CEOT
Calcinosis CLC006
Calciphylaxis CLC001
Calciphylaxis Cutis CLC050
Callosities, Hereditary Painful CLL040
Calloso-Genital Dysplasia CLL019
Calpain-3-Related Limb-Girdle Muscular Dystrophy D4 CLP008
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 CLP009
Calvarial Doughnut Lesions with Bone Fragility CLV014 CDL
Calvarial Hyperostosis CLV004
Camera-Marugo-Cohen Syndrome CMR005
Campomelia, Cumming Type CMP075
Campomelic Dysplasia CMP005 CMD1
Campomelic Dysplasia and Related Disorders CMP100
Camptobrachydactyly CMP016
Camptocormism CMP017
Camptodactyly 1 CMP039 CAMPD1
Camptodactyly Syndrome, Guadalajara, Type I CMP072 GCS1
Camptodactyly Syndrome, Guadalajara, Type Ii CMP071
Camptodactyly Syndrome, Guadalajara, Type Iii CMP088
Camptodactyly Taurinuria CMP022
Camptodactyly Vertebral Fusion CMP023
Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia CMP073
Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases CMP076
Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye CMP074
Camptodactyly, Tall Stature, and Hearing Loss Syndrome CMP025 CATSHLS
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome CMP012 CACP
Camptodactyly-Ichthyosis Syndrome CMP026
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome CMP067
Camptomelic Syndrome, Long-Limb Type CMP085
Camptosynpolydactyly, Complex CMP081 CCSPD
Campylobacteriosis CMP002
Camurati-Engelmann Disease CMR001 CAEND
Camurati-Engelmann Disease, Type 2 CMR006 CED2
Canavan Disease CNV004 CAND
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma CNC020 CAPOK
Cancer, Familial, with in Vitro Radioresistance CNC019
Cancer-Associated Retinopathy CNC014
Cancerophobia CNC001
Candida Glabrata CND006
Candidal Paronychia CND003
Candidiasis CND004
Candidiasis, Familial, 1 CND033 CANDF1
Candidiasis, Familial, 2 CND034 CANDF2
Candidiasis, Familial, 3 CND027 CANDF3
Candidiasis, Familial, 4 CND036 CANDF4
Candidiasis, Familial, 6 CND037 CANDF6
Candidiasis, Familial, 8 CND025 CANDF8
Candidiasis, Familial, 9 CND031 CANDF9
Canine Teeth, Absence of Upper Permanent CNN014
Cannabis Abuse CNN002
Cannabis Dependence CNN001
Canomad Syndrome CNM001
Cantalamessa Baldini Ambrosi Syndrome CNT052
Cantu Sanchez-Corona Fragoso Syndrome CNT053
Cantu Sanchez-Corona Garcia-Cruz Syndrome CNT054
Cantu Sanchez-Corona Hernandez Syndrome CNT055
Cantu Syndrome CNT056 HTOCD
Cantú Syndrome and Related Disorders CNT094
Cap Myopathy CPM001
Cap Polyposis CPP003
Capgras Syndrome CPG001
Capillariasis CPL001
Capillary Disease CPL005
Capillary Hemangioma CPL006
Capillary Leak Syndrome CPL003 SCLS
Capillary Lymphangioma CPL002
Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth CPL012 CLAPO
Capillary Malformation-Arteriovenous Malformation 1 CPL014 CMAVM1
Capillary Malformation-Arteriovenous Malformation 2 CPL015 CMAVM2
Capillary Malformations, Congenital CPL013 CMC
Caplan's Syndrome CPL004
Car Factor Deficiency CRF001
Car T Cell Therapy-Associated Cytokine Release Syndrome CRT088
Carabelli Anomaly of Maxillary Molar Teeth CRB173
Carbamazepine Allergy CRB199
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to CRB186 CPS1D
Carbapenem Allergy CRB200
Carbimazole Sensitivity CRB177
Carbohydrate Metabolic Disorder CRB025
Carbonic Anhydrase Va Deficiency CRB155
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to CRB197 CA5AD
Carboxypeptidase N Deficiency CRB041 CPND
Carbuncle CRB016
Carcinofibroma of the Corpus Uteri CRC031
Carcinoid Syndrome CRC006
Carcinoid Tumor Childhood CRC007
Carcinoid Tumors, Intestinal CRC014 ICT
Carcinoma Arising in Nasal Papillomatosis CRC002
Carcinoma of Esophagus, Salivary Gland Type CRC037
Carcinoma of Gallbladder and Extrahepatic Biliary Tract CRC045
Carcinoma of Liver and Intrahepatic Biliary Tract CRC044
Carcinoma of the Vocal Tract CRC008
Carcinoma Showing Thymus-Like Differentiation CRC034
Carcinosarcoma CRC021 MMMT
Carcinosarcoma of the Cervix Uteri CRC040
Cardia Cancer CRD005
Cardiac Anomalies-Heterotaxy Syndrome CRD212
Cardiac Arrest CRD119
Cardiac Arrhythmia CRD223
Cardiac Arrhythmia, Ankyrin-B-Related CRD054 LQT4
Cardiac Conduction Defect CRD132 SCD
Cardiac Conduction Disease with or Without Dilated Cardiomyopathy CRD178 CCDD
Cardiac Diverticulum CRD014
Cardiac Granular Cell Neoplasm CRD004
Cardiac Hydatid Cysts with Intracavitary Expansion CRD015
Cardiac Lipidosis, Familial CRD227
Cardiac Rupture CRD016
Cardiac Sarcoidosis CRD003
Cardiac Septal Defects with Coarctation of the Aorta CRD228
Cardiac Tamponade CRD001
Cardiac Tuberculosis CRD217
Cardiac Valvular Defect, Developmental CRD220 CVDD
Cardiac Valvular Dysplasia, X-Linked CRD017 CVD1
Cardiac, Facial, and Digital Anomalies with Developmental Delay CRD243 CAFDADD
Cardiac-Urogenital Syndrome CRD245 CUGS
Cardioauditory Syndrome of Sanchez Cascos CRD018
Cardioencephalomyopathy CRD009
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 CRD170 CEMCOX1
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 CRD158 CEMCOX2
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 CRD193 CEMCOX3
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 CRD192 CEMCOX4
Cardiofacial Syndrome Short Limbs CRD020
Cardiofaciocutaneous Syndrome 1 CRD224 CFC1
Cardiofaciocutaneous Syndrome 2 CRD163 CFC2
Cardiofaciocutaneous Syndrome 3 CRD164 CFC3
Cardiofaciocutaneous Syndrome 4 CRD167 CFC4
Cardiogenic Shock CRD137
Cardiomelic Syndrome Stratton Koehler Type CRD021
Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation CRD022
Cardiomyopathy Associated with Myopathy and Sudden Death CRD230
Cardiomyopathy Cataract Hip Spine Disease CRD023
Cardiomyopathy Diabetes Deafness CRD024
Cardiomyopathy Due to Anthracyclines CRD027
Cardiomyopathy Hypogonadism Metabolic Anomalies CRD029
Cardiomyopathy Spherocytosis CRD030
Cardiomyopathy, Dilated, 1a CRD093 CMD1A
Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction CRD237 CMD1AA
Cardiomyopathy, Dilated, 1b CRD233 CMD1B
Cardiomyopathy, Dilated, 1bb CRD108 CMD1BB
Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction CRD234 CMD1C
Cardiomyopathy, Dilated, 1cc CRD115 CMD1CC
Cardiomyopathy, Dilated, 1d CRD097 CMD1D
Cardiomyopathy, Dilated, 1dd CRD091 CMD1DD
Cardiomyopathy, Dilated, 1e CRD099 CMD1E
Cardiomyopathy, Dilated, 1ee CRD096 CMD1EE
Cardiomyopathy, Dilated, 1ff CRD064 CMD1FF
Cardiomyopathy, Dilated, 1g CRD080 CMD1G
Cardiomyopathy, Dilated, 1gg CRD082 CMD1GG
Cardiomyopathy, Dilated, 1h CRD069 CMD1H
Cardiomyopathy, Dilated, 1hh CRD159 CMD1HH
Cardiomyopathy, Dilated, 1i CRD111 CMD1I
Cardiomyopathy, Dilated, 1ii CRD162 CMD1II
Cardiomyopathy, Dilated, 1j CRD102 CMD1J
Cardiomyopathy, Dilated, 1jj CRD149 CMD1JJ
Cardiomyopathy, Dilated, 1k CRD070 CMD1K
Cardiomyopathy, Dilated, 1kk CRD155 CMD1KK
Cardiomyopathy, Dilated, 1l CRD090 CMD1L
Cardiomyopathy, Dilated, 1m CRD114 CMD1M
Cardiomyopathy, Dilated, 1nn CRD173 CMD1NN
Cardiomyopathy, Dilated, 1o CRD105 CMD1O
Cardiomyopathy, Dilated, 1p CRD104 CMD1P
Cardiomyopathy, Dilated, 1q CRD071 CMD1Q
Cardiomyopathy, Dilated, 1r CRD107 CMD1R
Cardiomyopathy, Dilated, 1u CRD112 CMD1U
Cardiomyopathy, Dilated, 1v CRD113 CMD1V
Cardiomyopathy, Dilated, 1w CRD092 CMD1W
Cardiomyopathy, Dilated, 1x CRD101 CMD1X
Cardiomyopathy, Dilated, 1z CRD060 CMD1Z
Cardiomyopathy, Dilated, 2a CRD063 CMD2A
Cardiomyopathy, Dilated, 2b CRD153 CMD2B
Cardiomyopathy, Dilated, 2c CRD244 CMD2C
Cardiomyopathy, Dilated, 3b CRD187 CMD3B
Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism CRD229 CMDHH
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma CRD180 DCWHK
Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis CRD240 DCWHKTA
Cardiomyopathy, Familial Hypertrophic 27 CRD242 CMH27
Cardiomyopathy, Familial Hypertrophic, 1 CRD086 CMH1
Cardiomyopathy, Familial Hypertrophic, 10 CRD087 CMH10
Cardiomyopathy, Familial Hypertrophic, 11 CRD056 CMH11
Cardiomyopathy, Familial Hypertrophic, 12 CRD081 CMH12
Cardiomyopathy, Familial Hypertrophic, 13 CRD061 CMH13
Cardiomyopathy, Familial Hypertrophic, 14 CRD089 CMH14
Cardiomyopathy, Familial Hypertrophic, 15 CRD083 CMH15
Cardiomyopathy, Familial Hypertrophic, 16 CRD148 CMH16
Cardiomyopathy, Familial Hypertrophic, 17 CRD238 CMH17
Cardiomyopathy, Familial Hypertrophic, 18 CRD150 CMH18
Cardiomyopathy, Familial Hypertrophic, 2 CRD065 CMH2
Cardiomyopathy, Familial Hypertrophic, 20 CRD147 CMH20
Cardiomyopathy, Familial Hypertrophic, 21 CRD152 CMH21
Cardiomyopathy, Familial Hypertrophic, 25 CRD236 CMH25
Cardiomyopathy, Familial Hypertrophic, 26 CRD222 CMH26
Cardiomyopathy, Familial Hypertrophic, 3 CRD058 CMH3
Cardiomyopathy, Familial Hypertrophic, 4 CRD085 CMH4
Cardiomyopathy, Familial Hypertrophic, 6 CRD232 CMH6
Cardiomyopathy, Familial Hypertrophic, 7 CRD062 CMH7
Cardiomyopathy, Familial Hypertrophic, 8 CRD088 CMH8
Cardiomyopathy, Familial Hypertrophic, 9 CRD079 CMH9
Cardiomyopathy, Familial Restrictive, 1 CRD176 RCM1
Cardiomyopathy, Familial Restrictive, 2 CRD057 RCM2
Cardiomyopathy, Familial Restrictive, 3 CRD098 RCM3
Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification CRD031
Cardiomyopathy, Infantile Histiocytoid CRD231 CMIH
Cardiomyopathy, Infantile Hypertrophic CRD219 CMHI
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods CRD235
Cardioskeletal Syndrome, Kuwaiti Type CRD215
Cardiospondylocarpofacial Syndrome CRD221 CSCF
Cardiovascular Cancer CRD118
Cardiovascular Organ Benign Neoplasm CRD007
Cardiovascular Syphilis CRD006
Cardiovascular System Disease CRD246
Carey-Fineman-Ziter Syndrome CRY032 CFZS
Caribbean Parkinsonism CRB203
Carnevale Hernandez Castillo Syndrome CRN053
Carney Complex Variant CRN038 CACOV
Carney Complex, Type 1 CRN243 CNC1
Carney Complex, Type 2 CRN298 CNC2
Carney Triad CRN055
Carnitine Acetyltransferase Deficiency CRN039
Carnitine Deficiency, Myopathic CRN287
Carnitine Deficiency, Systemic Primary CRN239 CDSP
Carnitine Palmitoyltransferase I Deficiency CRN295 CPT1AD
Carnitine Palmitoyltransferase Ii Deficiency, Infantile CRN296 CPT2DI
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal CRN302 CPT2DLN
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced CRN294 CPT2D
Carnitine-Acylcarnitine Translocase Deficiency CRN041 CACTD
Carnosinemia CRN042
Caroli Disease CRL004
Caroli Disease, Isolated CRL006
Caronte CRN167 CAR
Carotenemia CRT011
Carotid Artery Disease CRT016
Carotid Artery Dissection CRT008
Carotid Artery Occlusion CRT015
Carotid Artery Thrombosis CRT004
Carotid Body Cancer CRT001
Carotid Intimal Medial Thickness 1 CRT043 CIMT1
Carotid Intimal Medial Thickness 2 CRT085 CIMT2
Carotid Stenosis CRT013
Carotidynia CRT056
Carp Allergy CRP027
Carpal Displacement CRP031
Carpal Tunnel Syndrome CRP001 CTS1
Carpenter Syndrome 1 CRP023 CRPT1
Carpenter Syndrome 2 CRP022 CRPT2
Carpo Tarsal Osteolysis Recessive CRP008
Carrion's Disease CRR001
Cartilage Cancer CRT006
Cartilage Disease CRT017
Cartilage-Hair Hypoplasia CRT002 CHH
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders CRT024
Cartwright Nelson Fryns Syndrome CRT027
Carvone Allergic Contact Dermatitis CRV076
Cascade Stomach CSC001
Cask Disorders CSK003
Cask-Related Disorders CSK001
Cask-Related Intellectual Disability CSK002
Caspase 8 Deficiency CSP005 CASP8D
Cassavism CSS001
Castleman Disease CST005
Cat Eye Syndrome CTY001 CES
Catamenial Pneumothorax CTM001
Cataract CTR002
Cataract 1, Multiple Types CTR098 CTRCT1
Cataract 10, Multiple Types CTR124 CTRCT10
Cataract 11, Multiple Types CTR113 CTRCT11
Cataract 12, Multiple Types CTR105 CTRCT12
Cataract 13 with Adult I Phenotype CTR107 CTRCT13
Cataract 14, Multiple Types CTR118 CTRCT14
Cataract 15, Multiple Types CTR116 CTRCT15
Cataract 16, Multiple Types CTR115 CTRCT16
Cataract 17, Multiple Types CTR131 CTRCT17
Cataract 18 CTR181 CTRCT18
Cataract 19, Multiple Types CTR165 CTRCT19
Cataract 2, Multiple Types CTR102 CTRCT2
Cataract 20, Multiple Types CTR106 CTRCT20
Cataract 21, Multiple Types CTR141 CTRCT21
Cataract 22, Multiple Types CTR180 CTRCT22
Cataract 23, Multiple Types CTR182 CTRCT23
Cataract 24 CTR175 CTRCT24
Cataract 25 CTR121 CTRCT25
Cataract 26, Multiple Types CTR110 CTRCT26
Cataract 27 CTR178 CTRCT27
Cataract 28 CTR157 CTRCT28
Cataract 29 CTR169 CTRCT29
Cataract 3, Multiple Types CTR132 CTRCT3
Cataract 30 CTR185
Cataract 30, Multiple Types CTR170 CTRCT30
Cataract 31, Multiple Types CTR129 CTRCT31
Cataract 32, Multiple Types CTR119 CTRCT32
Cataract 33 CTR128
Cataract 33, Multiple Types CTR166 CTRCT33
Cataract 34, Multiple Types CTR097 CTRCT34
Cataract 35 CTR159 CTRCT35
Cataract 36 CTR111 CTRCT36
Cataract 37 CTR158 CTRCT37
Cataract 38 CTR183 CTRCT38
Cataract 39, Multiple Types CTR184 CTRCT39
Cataract 4, Multiple Types CTR103 CTRCT4
Cataract 40 CTR174 CTRCT40
Cataract 41 CTR136 CTRCT41
Cataract 42 CTR139 CTRCT42
Cataract 43 CTR144 CTRCT43
Cataract 44 CTR145 CTRCT44
Cataract 45 CTR160 CTRCT45
Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy CTR188 CTRCT46
Cataract 47 CTR162 CTRCT47
Cataract 48 CTR187 CTRCT48
Cataract 5, Multiple Types CTR122 CTRCT5
Cataract 6, Multiple Types CTR096 CTRCT6
Cataract 7 CTR125 CTRCT7
Cataract 8, Multiple Types CTR095 CTRCT8
Cataract 9, Multiple Types CTR130 CTRCT9
Cataract and Congenital Ichthyosis CTR005
Cataract Congenital Autosomal Dominant CTR008
Cataract Congenital Dominant Non Nuclear CTR009 CCP
Cataract Hutterite Type CTR011
Cataract Microcornea Syndrome CTR014
Cataract Skeletal Anomalies CTR016
Cataract, Aberrant Oral Frenula, and Growth Retardation CTR154
Cataract, Age-Related Nuclear CTR176
Cataract, Ataxia, Short Stature, and Mental Retardation CTR173
Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy CTR179
Cataract, Congenital, with Microcornea or Slight Microphthalmia CTR019
Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome CTR171
Cataract, Total Congenital CTR025 CCT
Cataract-Ataxia-Deafness-Retardation Syndrome CTR155
Cataract-Deafness-Hypogonadism Syndrome CTR153
Cataract-Glaucoma CTR027
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome CTR151
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia CTR140 CAGSSS
Catastrophic Antiphospholipid Syndrome CTS005 CAPS
Catatrichy CTT001
Catecholaminergic Polymorphic Ventricular Tachycardia CTC001 CPVT
Catecholaminergic Polymorphic Ventricular Tachycardia 5 CTC003 CVPT5
Catel-Manzke Syndrome CTL005 CATMANS
Cathepsin a-Related Arteriopathy-Strokes-Leukoencephalopathy CTH001
Catifa Syndrome CTF001 CATIFA
Cat-Scratch Disease CTS002
Catsper1-Related Nonsyndromic Male Infertility CTS016
Catsper-Related Male Infertility CTS004
Cauda Equina Intradural Extramedullary Astrocytoma CDQ002
Cauda Equina Neoplasm CDQ003
Cauda Equina Syndrome CDQ001
Caudal Appendage Deafness CDL001
Caudal Duplication Anomaly CDL005 CADUA
Caudal Regression-Sirenomelia Spectrum CDL007
Causalgia CSL001
Cav3-Related Distal Myopathy CV3001 MPDT
Cavernous Hemangioma CVR006
Cavernous Hemangioma of Colon CVR004
Cavernous Hemangioma of Face CVR003
Cavernous Hemangioma of Orbit CVR005
Cavernous Lymphangioma CVR008
Cavernous Malformation CVR010
Cavernous Sinus Meningioma CVR001
Cavernous Sinus Thrombosis CVR002
Cavitary Myiasis CVT002
Cavitary Optic Disc Anomalies CVT001 CODA
Cayler Cardiofacial Syndrome CYL001 ACF
Cd3zeta Deficiency CD3001
Cd4 Deficiency CD4004
Cd4/cd8 T-Cell Ratio CD4008
Cd40 Ligand Deficiency CD4003 HIGM1
Cd45 Deficiency CD4001
Cd8 Deficiency, Familial CD8002 CD8 DEFICIENCY
Cdags Syndrome CDG001
Cdc73-Related Disorders CDC001
Cdk13-Related Disorder CDK007
Cdk4 Linked Melanoma CDK001
Cebalid Syndrome CBL011 CEBALID
Cebpa-Associated Familial Acute Myeloid Leukemia CBP001
Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome CBP002 CAIN
Cecal Benign Neoplasm CCL003
Cecal Disease CCL002
Cecum Adenocarcinoma CCM001
Cecum Adenoma CCM005
Cecum Carcinoma CCM004
Cecum Lymphoma CCM002
Cefaclor Allergy CFC003
Cefixime Allergy CFX001
Cefotaxime Allergy CFT004
Cefotiam Allergy CFT006
Ceftazidime Allergy CFT005
Ceftriaxone Allergy CFT003
Cefuroxime Allergy CFR002
Celery Allergy CLR146
Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm CLC062
Celiac Disease 1 CLC063 CELIAC1
Celiac Disease 10 CLC038 CELIAC10
Celiac Disease 11 CLC043 CELIAC11
Celiac Disease 12 CLC044 CELIAC12
Celiac Disease 13 CLC039 CELIAC13
Celiac Disease 2 CLC045 CELIAC2
Celiac Disease 3 CLC048 CELIAC3
Celiac Disease 4 CLC037 CELIAC4
Celiac Disease 5 CLC046 CELIAC5
Celiac Disease 6 CLC040 CELIAC6
Celiac Disease 7 CLC041 CELIAC7
Celiac Disease 8 CLC047 CELIAC8
Celiac Disease 9 CLC042 CELIAC9
Cell Type Benign Neoplasm CLL012
Cellular Congenital Mesoblastic Nephroma CLL007
Cellular Ependymoma CLL010
Cellular Leiomyoma CLL005
Cellular Myxoid Liposarcoma CLL004
Cellular Neurofibroma CLL006
Cellular Phase Chronic Idiopathic Myelofibrosis CLL008
Cellular Schwannoma CLL001
Cellulitis CLL003
Celsr1-Related Late-Onset Primary Lymphedema CLS057
Cenani-Lenz Syndactyly Syndrome CNN011 CLSS
Cennamo Gangemi Syndrome CNN006
Central Bilateral Macrogyria CNT077
Central Breast Papilloma CNT020
Central Centrifugal Cicatricial Alopecia CNT057 CCCA
Central Cervical Cord Syndrome CNT066
Central Cloudy Dystrophy of Francois CNT088 CCDF
Central Congenital Hypothyroidism CNT101
Central Cord Syndrome CNT067
Central Core Disease of Muscle CNT105 CCD
Central Core Myopathy CNT009
Central Corneal Ulcer CNT026
Central Epithelioid Sarcoma CNT031
Central Gyrate Choroidal Dystrophy CNT022
Central Hypoventilation Syndrome, Congenital CNT097 CCHS
Central Incisors, Absence of CNT107
Central Nervous System Adult Germ Cell Tumor CNT032
Central Nervous System Angiosarcoma CNT002
Central Nervous System Benign Neoplasm CNT109
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome CNT103
Central Nervous System Cancer CNT033
Central Nervous System Childhood Germ Cell Tumor CNT034
Central Nervous System Chondroma CNT012
Central Nervous System Cystic Malformation CNT113
Central Nervous System Disease CNT035 CNS
Central Nervous System Embryonal Carcinoma CNT003
Central Nervous System Embryonal Tumor CNT115
Central Nervous System Endodermal Sinus Tumor CNT029
Central Nervous System Fibrosarcoma CNT027
Central Nervous System Germ Cell Tumor CNT036
Central Nervous System Germinoma CNT037
Central Nervous System Hemangioma CNT023
Central Nervous System Hematologic Cancer CNT010
Central Nervous System Immature Teratoma CNT039
Central Nervous System Leiomyoma CNT013
Central Nervous System Leiomyosarcoma CNT030
Central Nervous System Leukemia CNT018
Central Nervous System Lipoma CNT024
Central Nervous System Lymphoma CNT005
Central Nervous System Malformation CNT114
Central Nervous System Mature Teratoma CNT040
Central Nervous System Melanocytic Neoplasm CNT041
Central Nervous System Mesenchymal Non-Meningothelial Tumor CNT042
Central Nervous System Origin Vertigo CNT017
Central Nervous System Osteosarcoma CNT014
Central Nervous System Primitive Neuroectodermal Neoplasm CNT044 CPNET
Central Nervous System Rhabdomyosarcoma CNT021
Central Nervous System Sarcoma CNT045
Central Nervous System Tuberculosis CNT007
Central Nervous System Vasculitis CNT046
Central Neurocytoma CNT019
Central Pain Syndrome CNT068
Central Polydactyly CNT108
Central Pontine Myelinolysis CNT025 CPM
Central Precocious Puberty CNT075 CPP
Central Pterygium CNT006
Central Retinal Artery Occlusion CNT028
Central Retinal Vein Occlusion CNT016 CRVO
Central Serous Chorioretinopathy CNT060 CSCR
Central Sleep Apnea CNT015
Centralopathic Epilepsy CNT106 ECT
Centripetalis Recessive Dystrophic Epidermolysis Bullosa CNT086
Centronuclear Myopathy CNT004 CNM
Cephalic Disorders CPH001
Cephalin Lipidosis CPH003
Cephalosporin Allergy CPH004
Cercarial Dermatitis CRC001
Cerebellar Agenesis CRB053
Cerebellar Angioblastoma CRB015
Cerebellar Astrocytoma CRB026
Cerebellar Astrocytoma, Childhood CRB054
Cerebellar Ataxia and Ectodermal Dysplasia CRB161
Cerebellar Ataxia and Hypergonadotropic Hypogonadism CRB192
Cerebellar Ataxia and Neurosensory Deafness CRB178
Cerebellar Ataxia Type 41 CRB219 SCA41
Cerebellar Ataxia Type 42 CRB217 SCA42
Cerebellar Ataxia Type 43 CRB220 SCA43
Cerebellar Ataxia Type 47 CRB218 SCA47
Cerebellar Ataxia Type 48 CRB221 SCA48
Cerebellar Ataxia Type 9 CRB222 SCA9
Cerebellar Ataxia with Peripheral Neuropathy CRB212
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss CRB189 CAPOS
Cerebellar Ataxia, Benign, with Thermoanalgesia CRB179
Cerebellar Ataxia, Cayman Type CRB081 ATCAY
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant CRB142 ADCADN
Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes CRB160 EOCA
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 CRB185 CAMRQ1
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 CRB136 CAMRQ2
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 CRB195 CAMRQ3
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 CRB141 CAMRQ4
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome CRB196 CANVAS
Cerebellar Ataxia, Nonprogressive, with Mental Retardation CRB139 CANPMR
Cerebellar Atrophy with Seizures and Variable Developmental Delay CRB205 CASVDD
Cerebellar Atrophy, Developmental Delay, and Seizures CRB169 CADEDS
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation CRB165 CAVIPMR
Cerebellar Degeneration CRB059
Cerebellar Disease CRB027
Cerebellar Hyplasia/atrophy, Epilepsy, and Global Developmental Delay CRB216
Cerebellar Hypoplasia CRB045
Cerebellar Hypoplasia Tapetoretinal Degeneration CRB061
Cerebellar Hypoplasia with Endosteal Sclerosis CRB062
Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay CRB215 CHEGDD
Cerebellar Liponeurocytoma CRB022
Cerebellar Malformation CRB209
Cerebellar Medulloblastoma CRB028
Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome CRB163
Cerebellar Vermis Medulloblastoma CRB013
Cerebellar, Ocular, Craniofacial, and Genital Syndrome CRB204 COFG
Cerebellofaciodental Syndrome CRB147 CFDS
Cerebello-Olivary Atrophy CRB063
Cerebelloparenchymal Disorder Ii CRB180 CPD2
Cerebelloparenchymal Disorder V CRB181 CPD5
Cerebellopontine Angle Meningioma CRB023
Cerebellopontine Angle Primitive Neuroectodermal Tumor CRB223
Cerebellopontine Angle Tumor CRB029
Cerebellum Cancer CRB030
Cerebral Amyloid Angiopathy, App-Related CRB193 CAA-APP
Cerebral Amyloid Angiopathy, Cst3-Related CRB172 AMYL6
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 CRB176 CAA-ITM2B1
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 CRB174 CAA-ITM2B2
Cerebral Aneurysms CRB086
Cerebral Angioma CRB014
Cerebral Angiopathy, Dysphoric CRB182
Cerebral Arterial Disease CRB031
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 CRB175 CADASIL1
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 CRB170 CADASIL2
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy CRB188 CARASIL
Cerebral Arteriosclerosis CRB087
Cerebral Arteritis CRB005
Cerebral Artery Occlusion CRB004
Cerebral Atherosclerosis CRB008
Cerebral Atrophy CRB088
Cerebral Beriberi CRB089
Cerebral Calcification Cerebellar Hypoplasia CRB067
Cerebral Calcifications Opalescent Teeth Phosphaturia CRB068
Cerebral Cavernous Malformation, Familial CRB051
Cerebral Cavernous Malformations CRB048 CCM
Cerebral Cavernous Malformations 2 CRB191 CCM2
Cerebral Cavernous Malformations 3 CRB094 CCM3
Cerebral Convexity Meningioma CRB032
Cerebral Cortical Dysplasia CRB211
Cerebral Creatine Deficiency Syndrome CRB137
Cerebral Creatine Deficiency Syndrome 1 CRB151 CCDS1
Cerebral Creatine Deficiency Syndrome 2 CRB150 CCDS2
Cerebral Creatine Deficiency Syndrome 3 CRB148 CCDS3
Cerebral Degeneration CRB033
Cerebral Diseases of Vascular Origin with Epilepsy CRB207
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome CRB069 CEDNIK
Cerebral Falx Meningioma CRB017
Cerebral Folate Receptor Alpha Deficiency CRB012
Cerebral Gigantism Jaw Cysts CRB071
Cerebral Hemisphere Lipoma CRB034
Cerebral Hypoxia CRB090
Cerebral Lipidosis CRB018
Cerebral Lipidosis with Dementia CRB214
Cerebral Lymphoma CRB001
Cerebral Malformation with Epilepsy CRB206
Cerebral Malformation, Seizures, Hypertrichosis, and Overlapping Fingers CRB183
Cerebral Meningioma CRB036
Cerebral Neuroblastoma CRB024
Cerebral Organic Aciduria CRB213
Cerebral Palsy CRB037
Cerebral Palsy, Ataxic, Autosomal Recessive CRB108 ACP
Cerebral Palsy, Spastic Quadriplegic, 1 CRB125 CPSQ1
Cerebral Palsy, Spastic Quadriplegic, 2 CRB140 CPSQ2
Cerebral Palsy, Spastic Quadriplegic, 3 CRB095 CPSQ3
Cerebral Primitive Neuroectodermal Tumor CRB002
Cerebral Sarcoma CRB074
Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease CRB075
Cerebral Sclerosis, Diffuse, Scholz Type CRB187
Cerebral Sinovenous Thrombosis CRB132 CSVT
Cerebral Ventricle Cancer CRB038
Cerebral Visual Impairment CRB159
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked CRB144
Cerebritis CRB009
Cerebrocortical Degeneration of Infancy CRB184
Cerebrocostomandibular Syndrome CRB154 CCMS
Cerebrocostomandibular-Like Syndrome CRB078
Cerebrofacial Arteriovenous Metameric Syndrome CRB210 CAMS
Cerebrofacial Arteriovenous Metameric Syndrome Type 1 CRB128 CAMS1
Cerebrofacial Arteriovenous Metameric Syndrome Type 3 CRB127 CAMS3
Cerebro-Oculo-Facio-Skeletal Syndrome CRB091
Cerebrooculofacioskeletal Syndrome 1 CRB101 COFS1
Cerebrooculofacioskeletal Syndrome 2 CRB098 COFS2
Cerebrooculofacioskeletal Syndrome 3 CRB099 COFS3
Cerebrooculofacioskeletal Syndrome 4 CRB100 COFS4
Cerebrooculonasal Syndrome CRB164
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula CRB162
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 CRB194 CRMCC1
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 CRB168 CRMCC2
Cerebrospinal Fluid Leak CRB079
Cerebrotendinous Xanthomatosis CRB011 CTX
Cerebrovascular Benign Neoplasm CRB202
Cerebrovascular Disease CRB039 CVA
Cerebrum Cancer CRB040
Ceroid Lipofuscinosis, Neuronal, 1 CRD177 CLN1
Ceroid Lipofuscinosis, Neuronal, 10 CRD182 CLN10
Ceroid Lipofuscinosis, Neuronal, 11 CRD166 CLN11
Ceroid Lipofuscinosis, Neuronal, 13 CRD239 CLN13
Ceroid Lipofuscinosis, Neuronal, 2 CRD183 CLN2
Ceroid Lipofuscinosis, Neuronal, 3 CRD186 CLN3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive CRD226 CLN4A
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant CRD225 CLN4B
Ceroid Lipofuscinosis, Neuronal, 5 CRD184 CLN5
Ceroid Lipofuscinosis, Neuronal, 6 CRD185 CLN6
Ceroid Lipofuscinosis, Neuronal, 7 CRD179 CLN7
Ceroid Lipofuscinosis, Neuronal, 8 CRD181 CLN8
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant CRD075 CLN8NE
Ceroid Lipofuscinosis, Neuronal, 9 CRD216 CLN9
Ceroid Storage Disease CRD043
Cerulean Cataract CRL001 CCA1
Ceruminoma CRM002
Ceruminous Adenocarcinoma CRM013
Cervical Adenitis CRV030
Cervical Adenocarcinoma CRV031
Cervical Adenofibroma CRV023
Cervical Adenoid Basal Carcinoma CRV024
Cervical Adenoid Cystic Carcinoma CRV013
Cervical Adenoma Malignum CRV014
Cervical Adenomyoma CRV032
Cervical Adenosarcoma CRV028
Cervical Adenosquamous Carcinoma CRV033
Cervical Alveolar Soft Part Sarcoma CRV007
Cervical Aortic Arch CRV066
Cervical Atypical Polypoid Adenomyoma CRV021
Cervical Basaloid Squamous Cell Carcinoma CRV008
Cervical Benign Neoplasm CRV034
Cervical Cancer CRV035 CERCA
Cervical Carcinosarcoma CRV036
Cervical Clear Cell Adenocarcinoma CRV026
Cervical Dermoid Cyst CRV060
Cervical Dystonia CRV043
Cervical Endometrial Stromal Sarcoma CRV003
Cervical Endometrioid Adenocarcinoma CRV001
Cervical Hypertrichosis with Underlying Kyphoscoliosis CRV070
Cervical Incompetence CRV025
Cervical Intraepithelial Neoplasia CRV045 CIN
Cervical Keratinizing Squamous Cell Carcinoma CRV029
Cervical Large Cell Neuroendocrine Carcinoma CRV015
Cervical Lymphoepithelioma-Like Carcinoma CRV027
Cervical Mucinous Adenocarcinoma CRV037
Cervical Mullerian Papilloma CRV017
Cervical Neuroblastoma CRV067
Cervical Non-Keratinizing Squamous Cell Carcinoma CRV020
Cervical Polyp CRV068
Cervical Rib CRV071
Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction CRV046
Cervical Serous Adenocarcinoma CRV011
Cervical Spina Bifida Aperta CRV063
Cervical Spina Bifida Cystica CRV062
Cervical Spinal Canal and Spinal Cord Meningioma CRV019
Cervical Squamous Cell Carcinoma CRV038
Cervical Verrucous Carcinoma CRV012
Cervical Vertebrae, Agenesis of CRV074
Cervical Vertebral Bridge CRV072
Cervical Vertebral Dysplasia CRV073
Cervical Wilms' Tumor CRV016
Cervicitis CRV039
Cervicofacial Fibrochondroma CRV059
Cervicomedullary Junction Neoplasm CRV005
Cervicothoracic Spina Bifida Aperta CRV064
Cervicothoracic Spina Bifida Cystica CRV061
Cervix Carcinoma CRV040
Cervix Disease CRV069
Cervix Endometrial Stromal Tumor CRV041
Cervix Endometriosis CRV006
Cervix Erosion CRV010
Cervix Melanoma CRV009
Cervix Small Cell Carcinoma CRV022
Cervix Squamous Papilloma CRV018
Cervix Uteri Carcinoma in Situ CRV002
Cfhr5 Deficiency CFH006 CFHR5D
Chagas Disease CHG001
Chanarin-Dorfman Syndrome CHN055 CDS
Chancroid CHN002
Chand Syndrome CHN019 CHANDS
Channelopathy with Epilepsy CHN076
Chaotic Atrial Tachycardia CHT001
Chapare Hemorrhagic Fever CHP001
Char Syndrome CHR101 CHAR
Charcot-Marie-Tooth Disease CHR071 CMT
Charcot-Marie-Tooth Disease and Deafness CHR629 CMT1E
Charcot-Marie-Tooth Disease Intermediate Type CHR025
Charcot-Marie-Tooth Disease Type 1g CHR701
Charcot-Marie-Tooth Disease Type 2a CHR135
Charcot-Marie-Tooth Disease Type 2a2a CHR699
Charcot-Marie-Tooth Disease Type 2a2b CHR700
Charcot-Marie-Tooth Disease Type 2l CHR549
Charcot-Marie-Tooth Disease Type 5 CHR571
Charcot-Marie-Tooth Disease Type 7 CHR572
Charcot-Marie-Tooth Disease Type X CHR026
Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism CHR152
Charcot-Marie-Tooth Disease X-Linked Recessive 4 CHR697 CMTX4
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a CHR660 CMT2A2A
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b CHR674 CMT2A2B
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 CHR626 CMT2A1
Charcot-Marie-Tooth Disease, Axonal, Type 2b CHR646 CMT2B
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 CHR650 CMT2B1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 CHR651 CMT2B2
Charcot-Marie-Tooth Disease, Axonal, Type 2cc CHR618 CMT2CC
Charcot-Marie-Tooth Disease, Axonal, Type 2d CHR649 CMT2D
Charcot-Marie-Tooth Disease, Axonal, Type 2dd CHR678 CMT2DD
Charcot-Marie-Tooth Disease, Axonal, Type 2e CHR654 CMT2E
Charcot-Marie-Tooth Disease, Axonal, Type 2ee CHR683 CMT2EE
Charcot-Marie-Tooth Disease, Axonal, Type 2f CHR352 CMT2F
Charcot-Marie-Tooth Disease, Axonal, Type 2h CHR545 CMT2H
Charcot-Marie-Tooth Disease, Axonal, Type 2i CHR652 CMT2I
Charcot-Marie-Tooth Disease, Axonal, Type 2j CHR657 CMT2J
Charcot-Marie-Tooth Disease, Axonal, Type 2k CHR350 CMT2K
Charcot-Marie-Tooth Disease, Axonal, Type 2l CHR353 CMT2L
Charcot-Marie-Tooth Disease, Axonal, Type 2n CHR351 CMT2N
Charcot-Marie-Tooth Disease, Axonal, Type 2o CHR668 CMT2O
Charcot-Marie-Tooth Disease, Axonal, Type 2p CHR608 CMT2P
Charcot-Marie-Tooth Disease, Axonal, Type 2q CHR489 CMT2Q
Charcot-Marie-Tooth Disease, Axonal, Type 2r CHR671 CMT2R
Charcot-Marie-Tooth Disease, Axonal, Type 2t CHR542 CMT2T
Charcot-Marie-Tooth Disease, Axonal, Type 2u CHR547 CMT2U
Charcot-Marie-Tooth Disease, Axonal, Type 2v CHR548 CMT2V
Charcot-Marie-Tooth Disease, Axonal, Type 2w CHR544 CMT2W
Charcot-Marie-Tooth Disease, Axonal, Type 2x CHR613 CMT2X
Charcot-Marie-Tooth Disease, Axonal, Type 2z CHR617 CMT2Z
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive CHR655 CMT2RV
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a CHR627 CMT1A
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b CHR625 CMT1B
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c CHR647 CMT1C
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d CHR653 CMT1D
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f CHR656 CMT1F
Charcot-Marie-Tooth Disease, Demyelinating, Type 1g CHR681 CMT1G
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f CHR670 CMT4F
Charcot-Marie-Tooth Disease, Dominant Intermediate a CHR491 CMTDIA
Charcot-Marie-Tooth Disease, Dominant Intermediate B CHR422 CMTDIB
Charcot-Marie-Tooth Disease, Dominant Intermediate C CHR371 CMTDIC
Charcot-Marie-Tooth Disease, Dominant Intermediate D CHR481 CMTDID
Charcot-Marie-Tooth Disease, Dominant Intermediate E CHR522 CMTDIE
Charcot-Marie-Tooth Disease, Dominant Intermediate F CHR484 CMTDIF
Charcot-Marie-Tooth Disease, Dominant Intermediate G CHR676 CMTDIG
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type CHR628
Charcot-Marie-Tooth Disease, Recessive Intermediate a CHR658 CMTRIA
Charcot-Marie-Tooth Disease, Recessive Intermediate B CHR666 CMTRIB
Charcot-Marie-Tooth Disease, Recessive Intermediate C CHR480 CMTRIC
Charcot-Marie-Tooth Disease, Recessive Intermediate D CHR514 CMTRID
Charcot-Marie-Tooth Disease, Type 4a CHR517 CMT4A
Charcot-Marie-Tooth Disease, Type 4b1 CHR521 CMT4B1
Charcot-Marie-Tooth Disease, Type 4b2 CHR519 CMT4B2
Charcot-Marie-Tooth Disease, Type 4b3 CHR504 CMT4B3
Charcot-Marie-Tooth Disease, Type 4c CHR516 CMT4C
Charcot-Marie-Tooth Disease, Type 4d CHR376 CMT4D
Charcot-Marie-Tooth Disease, Type 4h CHR421 CMT4H
Charcot-Marie-Tooth Disease, Type 4j CHR420 CMT4J
Charcot-Marie-Tooth Disease, Type 4k CHR609 CMT4K
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 CHR640 CMTX1
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 CHR505 CMTX6
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 CHR641 CMTX2
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 CHR642 CMTX3
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia CHR696 CMTX4
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 CHR408 CMTX5
Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy CHR687
Charcot-Marie-Tooth Hereditary Neuropathy CHR453 DHMN
Charcot-Marie-Tooth Neuropathy X Type 5 CHR121 CMTX5
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined CHR644
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita CHR643
Charge Syndrome CHR103 CHARGES
Charles Bonnet Syndrome CHR158 CBS
Charlie M Syndrome CHR159
Chchd10-Related Disorders CHC002
Chd2-Related Neurodevelopmental Disorders CHD006 EEOC
Chediak-Higashi Syndrome CHD001 CHS
Cheek Mucosa Cancer CHK002
Cheilitis CHL056
Cheilitis Glandularis CHL075
Cheirospondyloenchondromatosis CHR512
Chemical Colitis CHM005
Chemodectoma, Intraabdominal, with Cutaneous Angiolipomas CHM007
Cherry Allergy CHR570
Cherubism CHR003 CRBM
Chest Wall Bone Cancer CHS003
Chest Wall Lipoma CHS001
Chest Wall Lymphoma CHS005
Chest Wall Parachordoma CHS004
Chester Porphyria CHS007 PORC
Chiari Malformation CHR342
Chiari Malformation Type 3 CHR161
Chiari Malformation Type 4 CHR162
Chiari Malformation Type I CHR320 CM1
Chiari Malformation Type Ii CHR579 CM2
Chiasmal Syndrome CHS002
Chicken Egg Allergy CHC003
Chickenpox CHC001
Chief Cell Adenoma CHF001
Chikungunya CHK001 CK
Chilaiditi Syndrome CHL076
Chilblain Lupus 1 CHL140 CHBL1
Chilblain Lupus 2 CHL114 CHBL2
Childhood Absence Epilepsy CHL002
Childhood Acute Lymphocytic Leukemia CHL152
Childhood Acute Myeloid Leukemia CHL149
Childhood Apraxia of Speech CHL109 CAS
Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter CHL150
Childhood B-Cell Acute Lymphoblastic Leukemia CHL157
Childhood Botryoid Rhabdomyosarcoma CHL030
Childhood Brain Germinoma CHL051
Childhood Brain Meningioma CHL017
Childhood Brain Stem Glioma CHL057
Childhood Brainstem Astrocytoma CHL053
Childhood Central Nervous System Germinoma CHL027
Childhood Central Nervous System Immature Teratoma CHL019
Childhood Central Nervous System Mature Teratoma CHL047
Childhood Central Nervous System Mixed Germ Cell Tumor CHL046
Childhood Central Nervous System Primitive Neuroectodermal Neoplasm CHL022
Childhood Cerebellar Astrocytic Neoplasm CHL037
Childhood Cerebellar Neoplasm CHL025
Childhood Cerebral Astrocytoma CHL009
Childhood Choriocarcinoma of the Ovary CHL038
Childhood Choriocarcinoma of the Testis CHL042
Childhood Choroid Plexus Cancer CHL015
Childhood Disintegrative Disease CHL012
Childhood Electroclinical Syndrome CHL058
Childhood Embryonal Testis Carcinoma CHL043
Childhood Endodermal Sinus Tumor CHL049
Childhood Extraosseous Osteosarcoma CHL007
Childhood Germ Cell Brain Tumor CHL055
Childhood Immature Teratoma of Ovary CHL011
Childhood Infratentorial Neoplasm CHL059
Childhood Intracortical Osteosarcoma CHL041
Childhood Kidney Angiomyolipoma CHL044
Childhood Kidney Cell Carcinoma CHL010
Childhood Leukemia CHL061
Childhood Malignant Hemangiopericytoma CHL034
Childhood Malignant Mesenchymoma CHL016
Childhood Malignant Schwannoma CHL033
Childhood Mature Teratoma of the Ovary CHL036
Childhood Mediastinal Neurogenic Tumor CHL005
Childhood Medulloblastoma CHL018
Childhood Multilocular Cystic Kidney Neoplasm CHL032
Childhood Myocerebrohepatopathy Spectrum CHL098 MCHS
Childhood Oligodendroglioma CHL006
Childhood Optic Nerve Glioma CHL024
Childhood Optic Tract Astrocytoma CHL023
Childhood Ovarian Embryonal Carcinoma CHL026
Childhood Ovarian Endodermal Sinus Tumor CHL008
Childhood Parosteal Osteogenic Sarcoma CHL001
Childhood Pilocytic Astrocytoma CHL062
Childhood Pleomorphic Rhabdomyosarcoma CHL054
Childhood Spinal Cord Tumor CHL003
Childhood Spinal Muscular Atrophy CHL155
Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified CHL153
Childhood T-Cell Acute Lymphoblastic Leukemia CHL156
Childhood Teratocarcinoma of the Testis CHL048
Childhood Teratoma of the Ovary CHL063
Childhood Testicular Mixed Germ Cell Tumor CHL064
Childhood Type Dermatomyositis CHL028
Childhood Vagina Botryoid Rhabdomyosarcoma CHL031
Childhood-Onset Epilepsy Syndrome CHL154
Childhood-Onset Nemaline Myopathy CHL107
Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome CHL130
Childhood-Onset Schizophrenia CHL078
Children's Interstitial Lung Disease CHL079 CHILD
Chitayat Meunier Hodgkinson Syndrome CHT002
Chitayat Syndrome CHT006 CHYTS
Chitotriosidase Deficiency CHT005 CHITD
Chitty Hall Webb Syndrome CHT003
Chlamydia CHL123
Chlamydia Pneumonia CHL147
Chloramine T Respiratory Allergy CHL146
Chloramphenicol Toxicity CHL135
Chlorhexidine Allergy CHL145
Chlorpropamide-Alcohol Flushing CHL131 CPAF
Chmp2b-Related Frontotemporal Dementia CHM002 DTM1
Choanal Atresia and Lymphedema CHN040 CATLPH
Choanal Atresia, Bilateral CHN052
Choanal Atresia, Posterior CHN065 PCA
Choanal Atresia, Unilateral CHN051
Cholangiocarcinoma CHL065 CC
Cholangiolocellular Carcinoma CHL040
Cholangitis CHL066
Cholangitis, Primary Sclerosing CHL119 PSC
Cholecystitis CHL067
Cholecystolithiasis CHL013
Choledocholithiasis CHL039
Cholelithiasis CHL004
Cholera CHL014
Cholestasis CHL068
Cholestasis with Gallstone, Ataxia, and Visual Disturbance CHL133
Cholestasis, Benign Recurrent Intrahepatic, 1 CHL134 BRIC1
Cholestasis, Benign Recurrent Intrahepatic, 2 CHL118 BRIC2
Cholestasis, Intrahepatic, of Pregnancy 3 CHL142 ICP3
Cholestasis, Intrahepatic, of Pregnancy, 1 CHL116 ICP1
Cholestasis, Progressive Familial Intrahepatic, 1 CHL132 PFIC1
Cholestasis, Progressive Familial Intrahepatic, 2 CHL136 PFIC2
Cholestasis, Progressive Familial Intrahepatic, 3 CHL137 PFIC3
Cholestasis, Progressive Familial Intrahepatic, 4 CHL143 PFIC4
Cholestasis, Progressive Familial Intrahepatic, 5 CHL091 PFIC5
Cholestasis-Lymphedema Syndrome CHL073 LCS
Cholesteatoma of Attic CHL020
Cholesteatoma of External Ear CHL021
Cholesteatoma of Middle Ear CHL122
Cholesteatoma, Congenital CHL138
Cholesterol Embolism CHL070
Cholesterol Ester Storage Disease CHL050
Cholesterol Level Quantitative Trait Locus 1 CHL139 CLF
Cholesterol Level Quantitative Trait Locus 2 CHL141
Cholesterol Pneumonia CHL084
Choline Deficiency Disease CHL045
Cholinergic Urticaria CHL035
Chondroblastic Osteosarcoma CHN003
Chondroblastoma CHN004
Chondrocalcinosis CHN059
Chondrocalcinosis 1 CHN021 CCAL1
Chondrocalcinosis 2 CHN022 CCAL2
Chondrocalcinosis Due to Apatite Crystal Deposition CHN023
Chondrodysplasia Acromesomelic with Genital Anomalies CHN024
Chondrodysplasia Calcificans Metaphysealis CHN026
Chondrodysplasia Lethal Recessive CHN027
Chondrodysplasia Punctata 1, X-Linked Recessive CHN028 CDPX1
Chondrodysplasia Punctata 2, X-Linked Dominant CHN074 CDPX2
Chondrodysplasia Punctata Sheffield Type CHN030
Chondrodysplasia Punctata Syndrome CHN044 CDP
Chondrodysplasia Punctata with Steroid Sulfatase Deficiency CHN031
Chondrodysplasia Punctata, Autosomal Dominant CHN071
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal CHN075 BCDP
Chondrodysplasia Punctata, Humero-Metacarpal Type CHN032
Chondrodysplasia Punctata, Tibia-Metacarpal Type CHN067
Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly CHN033
Chondrodysplasia with Joint Dislocations, Gpapp Type CHN045 CDP-GPAPP
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia CHN050 CDP-PBHM
Chondrodysplasia, Blomstrand Type CHN054 BOCD
Chondrodysplasia, Grebe Type CHN057 AMDG
Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density CHN066
Chondrodysplasia-Pseudohermaphroditism Syndrome CHN064
Chondroectodermal Dysplasia with Night Blindness CHN047
Chondroid Chordoma CHN009
Chondroid Lipoma CHN001
Chondroid Syringoma of the Vulva CHN007
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome CHN073
Chondroma CHN010
Chondromalacia CHN011
Chondromyxoid Fibroma CHN053
Chondronectin CHN072
Chondrosarcoma CHN012 CHDSA
Chondrosarcoma, Extraskeletal Myxoid CHN056 EMC
Chops Syndrome CHP002 CHOPS
Chordoid Glioma CHR033
Chordoid Meningioma CHR055
Chordoma CHR072 CHDM
Chorea Gravidarum CHR051
Chorea, Benign Familial CHR636
Chorea, Benign Hereditary CHR630 BHC
Chorea, Childhood-Onset, with Psychomotor Retardation CHR607 COCPMR
Chorea, Remitting, with Nystagmus and Cataract CHR648
Choreatic Disease CHR073
Choreoacanthocytosis CHR105 CHAC
Choreoacanthocytosis Amyotrophic CHR166
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction CHR661 CAHTP
Choreoathetosis, Familial Inverted CHR631
Chorioamnionitis CHR005
Chorioangioma CHR010
Choriocarcinoma CHR074
Choriocarcinoma of Ovary CHR075
Choriocarcinoma of the Central Nervous System CHR461
Choriocarcinoma of the Testis CHR076
Chorioretinal Atrophy, Progressive Bifocal CHR167 CRAPB
Chorioretinal Scar CHR077
Chorioretinitis CHR078
Choroid Cancer CHR410
Choroid Disease CHR079
Choroid Epithelioid Cell Melanoma CHR014
Choroid Mixed Cell Melanoma CHR448
Choroid Necrotic Melanoma CHR045
Choroid Plexus Calcification and Mental Retardation CHR580
Choroid Plexus Cancer CHR573
Choroid Plexus Cyst CHR170
Choroid Plexus Meningioma CHR006
Choroid Spindle Cell Melanoma CHR011
Choroidal Dystrophy, Central Areolar 2 CHR449 CACD2
Choroidal Dystrophy, Central Areolar, 1 CHR637 CACD1
Choroidal Dystrophy, Central Areolar, 3 CHR665 CACD3
Choroidal Osteoma, Bilateral CHR633
Choroideremia CHR081 CHM
Choroideremia Hypopituitarism CHR171
Choroideremia, Deafness, and Mental Retardation CHR506 DEL
Choroiditis CHR008
Christian Demyer Franken Syndrome CHR172
Christian Johnson Angenieta Syndrome CHR173
Christianson Syndrome CHR174
Chromhidrosis CHR175
Chromium Allergic Contact Dermatitis CHR679
Chromoblastomycosis CHR031
Chromophil Adenoma of the Kidney CHR082
Chromophil Renal Cell Carcinoma CHR176
Chromophobe Adenoma CHR034
Chromophobe Renal Cell Carcinoma CHR177 CRCC
Chromosomal Anomaly with Cataract CHR694
Chromosomal Anomaly with Epilepsy As a Major Feature CHR685
Chromosomal Deletion Syndrome CHR565
Chromosomal Disease CHR084
Chromosomal Disease with Overgrowth CHR693
Chromosomal Duplication Syndrome CHR569
Chromosomal Instability with Tissue-Specific Radiosensitivity CHR638
Chromosomal Triplication CHR178
Chromosome 1, Uniparental Disomy 1q12 Q21 CHR179
Chromosome 10, Uniparental Disomy CHR180 UPD
Chromosome 10p Deletion CHR181
Chromosome 10p Duplication CHR182
Chromosome 10q Deletion CHR183
Chromosome 10q Duplication CHR184
Chromosome 10q22.3-Q23.2 Deletion Syndrome CHR610
Chromosome 10q23 Deletion Syndrome CHR490
Chromosome 10q26 Deletion Syndrome CHR377
Chromosome 11p Deletion CHR185
Chromosome 11p Duplication CHR186
Chromosome 11p13 Deletion Syndrome, Distal CHR611
Chromosome 11q Duplication CHR188
Chromosome 12p Deletion CHR189
Chromosome 12p Duplication CHR190
Chromosome 12q Deletion CHR191
Chromosome 12q Duplication CHR192
Chromosome 13q Duplication CHR194
Chromosome 13q14 Deletion Syndrome CHR492
Chromosome 14q Deletion CHR195
Chromosome 14q Duplication CHR196
Chromosome 14q11-Q22 Deletion Syndrome CHR390
Chromosome 14q32 Duplication Syndrome, 700-Kb CHR673
Chromosome 15, Trisomy Mosaicism CHR197
Chromosome 15q Deletion CHR198
Chromosome 15q Duplication CHR199
Chromosome 15q11.2 Deletion Syndrome CHR523
Chromosome 15q11-Q13 Duplication Syndrome CHR590
Chromosome 15q13.3 Deletion Syndrome CHR662
Chromosome 15q14 Deletion Syndrome CHR612
Chromosome 15q24 Deletion Syndrome CHR391
Chromosome 15q25 Deletion Syndrome CHR494
Chromosome 15q25.2 Microdeletion CHR513
Chromosome 15q26-Qter Deletion Syndrome CHR379
Chromosome 16 Trisomy CHR200
Chromosome 16, Uniparental Disomy CHR201
Chromosome 16p Duplication CHR203
Chromosome 16p11.2 Deletion Syndrome CHR704
Chromosome 16p11.2 Deletion Syndrome, 220-Kb CHR620
Chromosome 16p11.2 Deletion Syndrome, 593-Kb CHR621
Chromosome 16p11.2 Duplication Syndrome CHR498
Chromosome 16p12.1 Deletion Syndrome CHR705
Chromosome 16p12.1 Deletion Syndrome, 520-Kb CHR634
Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb CHR586
Chromosome 16p13.3 Deletion Syndrome, Proximal CHR593 RTS
Chromosome 16p13.3 Duplication Syndrome CHR524
Chromosome 16q Deletion CHR206
Chromosome 16q Duplication CHR207
Chromosome 16q22 Deletion Syndrome CHR499
Chromosome 17p Deletion CHR208
Chromosome 17p Duplication CHR209 DUP
Chromosome 17p13.1 Deletion Syndrome CHR457
Chromosome 17p13.3, Centromeric, Duplication Syndrome CHR589
Chromosome 17p13.3, Telomeric, Duplication Syndrome CHR663 SHFLD3
Chromosome 17q Deletion CHR416
Chromosome 17q Duplication CHR210
Chromosome 17q11.2 Deletion Syndrome CHR554
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb CHR581
Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb CHR703
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 18P-
Chromosome 18p Duplication CHR212
Chromosome 18q Deletion Syndrome CHR382
Chromosome 18q Duplication CHR214
Chromosome 19p Deletion CHR215
Chromosome 19p Duplication CHR216
Chromosome 19p13.13 Deletion Syndrome CHR393
Chromosome 19q Deletion CHR217
Chromosome 19q Duplication CHR218
Chromosome 19q13.11 Deletion Syndrome CHR219
Chromosome 19q13.11 Deletion Syndrome, Distal CHR616
Chromosome 19q13.11 Deletion Syndrome, Proximal CHR615
Chromosome 1p Deletion CHR220
Chromosome 1p Duplication CHR221
Chromosome 1p35 Deletion Syndrome CHR677
Chromosome 1p36 Deletion Syndrome CHR222
Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant CHR702
Chromosome 1q Deletion CHR223
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb CHR583
Chromosome 1q21.1 Duplication Syndrome CHR225
Chromosome 1q41-Q42 Deletion Syndrome CHR226
Chromosome 20 Trisomy CHR227
Chromosome 20p Deletion CHR228
Chromosome 20p Duplication CHR229 DUP
Chromosome 20q Deletion CHR230
Chromosome 20q Duplication CHR231
Chromosome 21, Uniparental Disomy CHR232
Chromosome 21q Deletion CHR233
Chromosome 21q Duplication CHR234
Chromosome 22q Deletion CHR235
Chromosome 22q Duplication CHR236
Chromosome 22q11.2 Deletion Syndrome, Distal CHR346
Chromosome 22q11.2 Duplication Syndrome CHR659
Chromosome 22q13 Duplication Syndrome CHR503
Chromosome 2p Deletion CHR237
Chromosome 2p Duplication CHR238
Chromosome 2p12-P11.2 Deletion Syndrome CHR384
Chromosome 2p16.1-P15 Deletion Syndrome CHR396
Chromosome 2p16.3 Deletion Syndrome CHR669 SCZD17
Chromosome 2q Deletion CHR239
Chromosome 2q Duplication CHR240
Chromosome 2q24 Microdeletion Syndrome CHR241
Chromosome 2q31.1 Duplication Syndrome CHR365
Chromosome 2q31.2 Deletion Syndrome CHR385
Chromosome 2q35 Duplication Syndrome CHR619 SD1
Chromosome 2q37 Deletion Syndrome CHR543 BDMR
Chromosome 3p Duplication CHR244
Chromosome 3pter-P25 Deletion Syndrome CHR667
Chromosome 3q Deletion CHR245
Chromosome 3q Duplication CHR556
Chromosome 3q13.31 Deletion Syndrome CHR483
Chromosome 3q29 Deletion Syndrome CHR594
Chromosome 3q29 Duplication Syndrome CHR582
Chromosome 4p Deletion CHR247
Chromosome 4p Duplication CHR248
Chromosome 4q Deletion CHR249
Chromosome 4q Duplication CHR250
Chromosome 4q21 Deletion Syndrome CHR399
Chromosome 4q32.1-Q32.2 Triplication Syndrome CHR360
Chromosome 5, Uniparental Disomy CHR251
Chromosome 5p Duplication CHR252
Chromosome 5p13 Duplication Syndrome CHR366
Chromosome 5q Deletion Syndrome CHR635 MAR
Chromosome 5q Duplication CHR254
Chromosome 5q12 Deletion Syndrome CHR567
Chromosome 5q14.3 Deletion Syndrome, Distal CHR664 PVNH5
Chromosome 6p Deletion CHR255
Chromosome 6p Duplication CHR256
Chromosome 6pter-P24 Deletion Syndrome CHR386
Chromosome 6q Deletion CHR257
Chromosome 6q Duplication CHR258
Chromosome 6q11-Q14 Deletion Syndrome CHR400
Chromosome 6q24-Q25 Deletion Syndrome CHR568
Chromosome 6q25 Microdeletion Syndrome CHR259
Chromosome 7p Deletion CHR260
Chromosome 7p Duplication CHR261
Chromosome 7q Duplication CHR263
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb CHR584
Chromosome 8p Deletion CHR264
Chromosome 8p Duplication CHR265
Chromosome 8p11 Myeloproliferative Syndrome CHR375 SCLL
Chromosome 8p23.1 Deletion CHR266
Chromosome 8q Deletion CHR267
Chromosome 8q Duplication CHR268
Chromosome 8q12.1-Q21.2 Deletion Syndrome CHR645
Chromosome 8q21.11 Deletion Syndrome CHR487
Chromosome 8q22.1 Duplication Syndrome CHR588
Chromosome 9 Inversion CHR458
Chromosome 9p Deletion Syndrome CHR518
Chromosome 9p Duplication CHR270
Chromosome 9q Deletion CHR271
Chromosome 9q Duplication CHR272
Chromosome X Structural Anomaly CHR691
Chromosome Xp Deletion CHR459
Chromosome Xp11.22 Duplication Syndrome CHR639 MRX17
Chromosome Xp11.23-P11.22 Duplication Syndrome CHR368 DUP
Chromosome Xp11.3 Deletion Syndrome CHR397
Chromosome Xp21 Deletion Syndrome CHR387 DEL
Chromosome Xq Deletion CHR460
Chromosome Xq Duplication CHR274
Chromosome Xq26.3 Duplication Syndrome CHR525 XLAG
Chromosome Xq27.3-Q28 Duplication Syndrome CHR507 DUP
Chromosome Xq28 Duplication Syndrome CHR369
Chromosome Y Structural Anomaly CHR690
Chronic Acquired Demyelinating Polyneuropathy CHR688 CADP
Chronic Actinic Dermatitis CHR463
Chronic Active Epstein-Barr Virus Infection CHR276 CEBV
Chronic Apical Periodontitis CHR013
Chronic Atrial and Intestinal Dysrhythmia CHR515 CAID
Chronic Atticoantral Disease CHR042
Chronic Beryllium Disease CHR576
Chronic Bilirubin Encephalopathy CHR682 CBE
Chronic Canaliculitis CHR061
Chronic Cervicitis CHR085
Chronic Cholangitis CHR036
Chronic Closed-Angle Glaucoma CHR054
Chronic Congestive Splenomegaly CHR058
Chronic Conjunctivitis CHR086
Chronic Cutaneous Lupus Erythematosus CHR686
Chronic Cystitis CHR087
Chronic Dacryoadenitis CHR035
Chronic Dacryocystitis CHR060
Chronic Demyelinizing Neuropathy with Igm Monoclonal CHR279
Chronic Diarrhea Due to Glucoamylase Deficiency CHR474
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity CHR465
Chronic Duodenal Ileus CHR009
Chronic Encephalitis CHR692
Chronic Endophthalmitis CHR059
Chronic Enteropathy Associated with Slco2a1 Gene CHR603 CEAS
Chronic Eosinophilic Leukemia CHR563
Chronic Eosinophilic Pneumonia CHR037
Chronic Erosive Gastritis CHR280
Chronic Ethmoiditis CHR047
Chronic Eustachian Salpingitis CHR007
Chronic Fatigue Syndrome CHR066 CFS
Chronic Follicular Conjunctivitis CHR053
Chronic Frontal Sinusitis CHR040
Chronic Fungal Otitis Externa CHR052
Chronic Gonococcal Salpingitis CHR017
Chronic Gonorrhea of Cervix CHR030
Chronic Graft Versus Host Disease CHR417
Chronic Granulomatous Disease CHR012 CGD
Chronic Hepatic Porphyria CHR471
Chronic Hiccups CHR281
Chronic Inflammation of Lacrimal Passage CHR088
Chronic Inflammatory Demyelinating Polyneuritis CHR043
Chronic Inflammatory Demyelinating Polyradiculoneuropathy CHR070 CIDP
Chronic Interstitial Cystitis CHR020
Chronic Intestinal Failure CHR464 CIF
Chronic Intestinal Vascular Insufficiency CHR067
Chronic Kidney Disease CHR684 CKD
Chronic Lacrimal Gland Enlargement CHR002
Chronic Laryngitis CHR057
Chronic Leukemia CHR418 CLL
Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids CHR284
Chronic Lymphoproliferative Disorder of Natural Killer Cells CHR680 CNKL
Chronic Mast Cell Leukemia CHR698
Chronic Maxillary Sinusitis CHR038
Chronic Meningitis CHR091
Chronic Metabolic Polyneuropathy CHR069
Chronic Monocytic Leukemia CHR064
Chronic Mountain Sickness CHR546
Chronic Mucocutaneous Candidiasis CHR063 CMC
Chronic Myelomonocytic Leukemia CHR285 CMML
Chronic Neutrophilic Leukemia CHR286 CNL
Chronic Nk-Cell Lymphocytosis CHR068
Chronic Orbital Inflammation CHR093
Chronic Orthostatic Intolerance CHR344
Chronic Pain CHR345
Chronic Perichondritis of Pinna CHR041
Chronic Pneumonitis of Infancy CHR468 CPI
Chronic Polyneuropathy CHR094
Chronic Polyradiculoneuritis CHR287
Chronic Polyradiculoneuropathy CHR689
Chronic Primary Adrenal Insufficiency CHR695 CPAI
Chronic Progressive External Ophthalmoplegia CHR095 PEO
Chronic Pulmonary Heart Disease CHR096
Chronic Purulent Otitis Media CHR097
Chronic Pyelonephritis CHR098
Chronic Rapidly Progressive Glomerulonephritis CHR021
Chronic Recurrent Multifocal Osteomyelitis CHR288 CRMO
Chronic Relapsing Inflammatory Optic Neuropathy CHR675 CRION
Chronic Rheumatic Pericarditis CHR004
Chronic Rhinitis CHR048
Chronic Salpingitis CHR099
Chronic Salpingo-Oophoritis CHR018
Chronic Sphenoidal Sinusitis CHR039
Chronic Subinvolution of Uterus CHR032
Chronic Thromboembolic Pulmonary Hypertension CHR466 CTEPH
Chronic Tic Disorder CHR056
Chronic Toxic Polyneuropathy CHR044
Chronic Tubotympanic Suppurative Otitis Media CHR049
Chronic Tympanitis CHR015
Chronic Ulcer of Skin CHR100
Chronic Venous Insufficiency CHR431
Chronic Wasting Disease CHR028
Chudley-Mccullough Syndrome CHD004 CMCS
Chung-Jansen Syndrome CHN077 CHUJANS
Churg-Strauss Syndrome CHR001 CSS
Chylocele of Tunica Vaginalis CHY001
Chylomicron Retention Disease CHY002 CMRD
Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase CHY007
Chylothorax, Congenital CHY005
Cicatricial Ectropion CCT001
Cicatricial Entropion CCT003
Cicatricial Lagophthalmos CCT004
Cicatricial Pemphigoid CCT002
Ciguatera Fish Poisoning CGT001
Ciliary Body Cancer CLR122
Ciliary Body Epithelioid Cell Melanoma CLR004
Ciliary Body Mixed Cell Melanoma CLR008
Ciliary Body Spindle Cell Melanoma CLR002
Ciliary Discoordination Due to Random Ciliary Orientation CLR128
Ciliary Dyskinesia with Defective Radial Spokes CLR130
Ciliary Dyskinesia with Excessively Long Cilia CLR026
Ciliary Dyskinesia with Transposition of Ciliary Microtubules CLR129
Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules CLR027
Ciliary Dyskinesia, Primary, 1 CLR131 CILD1
Ciliary Dyskinesia, Primary, 10 CLR056 CILD10
Ciliary Dyskinesia, Primary, 11 CLR053 CILD11
Ciliary Dyskinesia, Primary, 12 CLR054 CILD12
Ciliary Dyskinesia, Primary, 13 CLR059 CILD13
Ciliary Dyskinesia, Primary, 14 CLR091 CILD14
Ciliary Dyskinesia, Primary, 15 CLR104 CILD15
Ciliary Dyskinesia, Primary, 16 CLR099 CILD16
Ciliary Dyskinesia, Primary, 17 CLR102 CILD17
Ciliary Dyskinesia, Primary, 18 CLR092 CILD18
Ciliary Dyskinesia, Primary, 19 CLR095 CILD19
Ciliary Dyskinesia, Primary, 2 CLR066 CILD2
Ciliary Dyskinesia, Primary, 20 CLR105 CILD20
Ciliary Dyskinesia, Primary, 21 CLR088 CILD21
Ciliary Dyskinesia, Primary, 22 CLR090 CILD22
Ciliary Dyskinesia, Primary, 23 CLR097 CILD23
Ciliary Dyskinesia, Primary, 24 CLR107 CILD24
Ciliary Dyskinesia, Primary, 25 CLR101 CILD25
Ciliary Dyskinesia, Primary, 26 CLR106 CILD26
Ciliary Dyskinesia, Primary, 27 CLR098 CILD27
Ciliary Dyskinesia, Primary, 28 CLR094 CILD28
Ciliary Dyskinesia, Primary, 29 CLR116 CILD29
Ciliary Dyskinesia, Primary, 3 CLR134 CILD3
Ciliary Dyskinesia, Primary, 30 CLR114 CILD30
Ciliary Dyskinesia, Primary, 32 CLR117 CILD32
Ciliary Dyskinesia, Primary, 33 CLR125 CILD33
Ciliary Dyskinesia, Primary, 34 CLR124 CILD34
Ciliary Dyskinesia, Primary, 35 CLR126 CILD35
Ciliary Dyskinesia, Primary, 36, X-Linked CLR127 CILD36
Ciliary Dyskinesia, Primary, 37 CLR123 CILD37
Ciliary Dyskinesia, Primary, 38 CLR138 CILD38
Ciliary Dyskinesia, Primary, 39 CLR139 CILD39
Ciliary Dyskinesia, Primary, 4 CLR067 CILD4
Ciliary Dyskinesia, Primary, 40 CLR140 CILD40
Ciliary Dyskinesia, Primary, 41 CLR141 CILD41
Ciliary Dyskinesia, Primary, 42 CLR142 CILD42
Ciliary Dyskinesia, Primary, 43 CLR143 CILD43
Ciliary Dyskinesia, Primary, 44 CLR144 CILD44
Ciliary Dyskinesia, Primary, 45 CLR145 CILD45
Ciliary Dyskinesia, Primary, 5 CLR068 CILD5
Ciliary Dyskinesia, Primary, 6 CLR042 CILD6
Ciliary Dyskinesia, Primary, 7 CLR135 CILD7
Ciliary Dyskinesia, Primary, 8 CLR069 CILD8
Ciliary Dyskinesia, Primary, 9 CLR136 CILD9
Ciliary Dyskinesia-Bronchiectasis CLR028
Ciliopathy CLP005
Cinca Syndrome CNC002 CINCA
Cinnamon Odor, Pleasantness of CNN008 CINN
Circumscribed Cutaneous Aplasia of the Vertex CRC010
Circumscribed Disseminated Keratosis Jadassohn Lew Type CRC011
Circumscribed Palmoplantar Hypokeratosis CRC033
Circumvallate Placenta Syndrome CRC042
Cirrhosis, Familial CRR016
Cirrhotic Cardiomyopathy CRR012
Citrulline Transport Defect CTR030
Citrullinemia, Classic CTR172 CTLN1
Citrullinemia, Type Ii, Adult-Onset CTR177 CTLN2
Citrullinemia, Type Ii, Neonatal-Onset CTR077 NICCD
Ck Syndrome CKS001 CKS
Clark-Baraitser Syndrome CLR029 CLABARS
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 Congenital Mesoblastic Nephroma CLS004
Classic Ehlers-Danlos Syndrome CLS054 CEDS
Classic Galactosemia and Clinical Variant Galactosemia CLS031
Classic Hairy Cell Leukemia CLS052 HCL-C
Classic Hodgkin Lymphoma, Lymphocyte-Rich Type CLS046
Classic Hodgkin Lymphoma, Mixed Cellularity Type CLS045
Classic Neuroendocrine Tumor of Appendix CLS051
Classic Organic Aciduria CLS056
Classic Paraneoplastic Limbic Encephalitis CLS018
Classic Phenylketonuria CLS049
Classic Progressive Supranuclear Palsy Syndrome CLS047
Classic Pulmonary Blastoma CLS002
Classic Pyoderma Gangrenosum CLS055
Classic Type Lipoma CLS001
Classic Variant of Chromophobe Renal Cell Carcinoma CLS003
Clavicle, Pseudarthrosis of, Congenital CLV012
Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia CLV013 CHZAM
Clcn2-Related Leukoencephalopathy CLC058 LKPAT
Clcn4-Related X-Linked Intellectual Disability Syndrome CLC060
Clcn7-Related Osteopetrosis CLC009
Clear Cell Acanthoma CLR001
Clear Cell Adenocarcinoma CLR003
Clear Cell Adenocarcinoma of the Ovary CLR137
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 CCRCC
Clear Cell Sarcoma CLR017
Clear Cell Squamous Cell Skin Carcinoma CLR010
Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma CLR016
Cleft Chin CLF052
Cleft Hard Palate CLF034
Cleft Larynx, Posterior CLF051 LC
Cleft Lip CLF001
Cleft Lip and Alveolus CLF049
Cleft Lip and Palate Malrotation Cardiopathy CLF007
Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome CLF055
Cleft Lip Palate Dysmorphism Kumar Type CLF009
Cleft Lip Palate Oligodontia Syndactyly Pili Torti CLF011
Cleft Lip Palate Pituitary Deficiency CLF012
Cleft Lip Palate-Tetraphocomelia CLF013
Cleft Lip with or Without Cleft Palate CLF056
Cleft Lip/palate CLF004 FLP
Cleft Lip/palate with Abnormal Thumbs and Microcephaly CLF046 JHS
Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease CLF042
Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome CLF038
Cleft Lip/palate-Ectodermal Dysplasia Syndrome CLF037 CLPED1
Cleft Lip-Retinopathy Syndrome CLF040
Cleft Lower Lip Cleft Lateral Canthi Chorioretinal CLF014
Cleft Mitral Valve CLF033
Cleft Palate Colobomata Radial Synostosis Deafness CLF016
Cleft Palate Heart Disease Polydactyly Absent Tibia CLF017
Cleft Palate Short Stature Vertebral Anomalies CLF019
Cleft Palate Stapes Fixation Oligodontia CLF020
Cleft Palate with or Without Ankyloglossia, X-Linked CLF053 CPX
Cleft Palate X-Linked CLF021 CPX
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly CLF044 ACFS
Cleft Palate, Cardiac Defects, and Intellectual Disability CLF054
Cleft Palate, Cardiac Defects, and Mental Retardation CLF050 CPCMR
Cleft Palate, Deafness, and Oligodontia CLF043
Cleft Palate, Isolated CLF027 CPI
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss CLF022
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features CLF048 CPRF
Cleft Soft Palate CLF028
Cleft Tongue CLF036
Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa CLF045
Cleft-Limb-Heart Malformation Syndrome CLF047
Cleidocranial Dysplasia CLD001 CCD
Cleidocranial Dysplasia and Isolated Cranial Ossification Defect CLD020
Cleidocranial Dysplasia Spectrum Disorder CLD019
Cleidocranial Dysplasia, Recessive Form CLD018
Cleidorhizomelic Syndrome CLD006
Climatic Droplet Keratopathy CLM004
Clitoris Cancer CLT001
Clivus Chondroid Chordoma CLV001
Clivus Chordoma CLV002
Clivus Meningioma CLV003
Cll/sll CLL014
Cln4 Disease CLN039
Cloacal Exstrophy CLC011
Cloacogenic Carcinoma CLC003
Clonorchiasis CLN003
Clopidogrel Resistance CLP006
Closed Iniencephaly CLS021
Clostridium Difficile Colitis CLS016
Clostridium Perfringens Infection CLS032
Clostridium Septicum Infection CLS034
Clostridium Sordellii Infection CLS033
Clouston Syndrome CLS005 ECTD2
Clpb Deficiency CLP007 MGA7
Clubfoot CLB002 CTEV
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly CLB019 CCF
Cluster Headache CLS010
Cluster Headache, Familial CLS053
Cluttering CLT002
Coach Syndrome CCH002 COACHS
Coagulation Protein Disease CGL001
Coarctation of Aorta CRC039
Coarse Face Hypotonia Constipation CRS004
Coats Disease CTS003
Cobalt Allergic Asthma CBL010
Cobalt Allergic Contact Dermatitis CBL009
Cobb Syndrome CBB002
Cobblestone Lissencephaly CBB005
Cobblestone Retinal Degeneration CBB001
Cocaine Abuse CCN002
Cocaine Antenatal Exposure CCN012
Cocaine Dependence CCN001
Cocaine Embryofetopathy CCN010
Cocaine Intoxication CCN009
Coccidioidomycosis CCC001
Coccidiosis CCC002
Coccygodynia CCC003
Cochlear Disease CCH001
Cochlear Nerve Deficiency CCH008
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts CCH003
Cochleosaccular Degeneration with Progressive Cataracts CCH006
Cochleovestibular Dysplasia CCH007
Cockayne Syndrome CCK001 CS
Cockayne Syndrome a CCK008 CSA
Cockayne Syndrome B CCK007 CSB
Cockayne Syndrome Type Iii CCK004
Codas Syndrome CDS002 CODASS
Coenurosis CNR001
Coenzyme Q Cytochrome C Reductase Deficiency of CNZ002
Coenzyme Q10 Deficiency Disease CNZ001
Coenzyme Q10 Deficiency, Primary, 1 CNZ006 COQ10D1
Coenzyme Q10 Deficiency, Primary, 2 CNZ007 COQ10D2
Coenzyme Q10 Deficiency, Primary, 3 CNZ004 COQ10D3
Coenzyme Q10 Deficiency, Primary, 4 CNZ005 COQ10D4
Coenzyme Q10 Deficiency, Primary, 5 CNZ009 COQ10D5
Coenzyme Q10 Deficiency, Primary, 6 CNZ008 COQ10D6
Coenzyme Q10 Deficiency, Primary, 7 CNZ010 COQ10D7
Coenzyme Q10 Deficiency, Primary, 8 CNZ011 COQ10D8
Coffin Syndrome 1 CFF004
Coffin-Lowry Syndrome CFF002 CLS
Coffin-Siris Syndrome 1 CFF008 CSS1
Coffin-Siris Syndrome 10 CFF015 CSS10
Coffin-Siris Syndrome 11 CFF016 CSS11
Coffin-Siris Syndrome 2 CFF007 CSS2
Coffin-Siris Syndrome 3 CFF010 CSS3
Coffin-Siris Syndrome 4 CFF009 CSS4
Coffin-Siris Syndrome 5 CFF006 CSS5
Coffin-Siris Syndrome 6 CFF011 CSS6
Coffin-Siris Syndrome 7 CFF012 CSS7
Coffin-Siris Syndrome 8 CFF013 CSS8
Coffin-Siris Syndrome 9 CFF014 CSS9
Cog5-Congenital Disorder of Glycosylation CG5002
Cogan Syndrome CGN006
Cogan-Reese Syndrome CGN001
Cognitive Function 1, Social CGN007 CGF1
Cognitive Impairment with or Without Cerebellar Ataxia CGN005 CIAT
Cohen Lockood Wyborney Syndrome CHN035
Cohen Syndrome CHN016 COH1
Cohen-Gibson Syndrome CHN070 COGIS
Col1a1/2 Osteogenesis Imperfecta CL1007 OI
Col4a1 or Col4a2-Related Cerebral Small Vessel Disease CL4010
Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Hemorrhagic Tendancy CL4011
Col4a1 or Col4a2-Related Cerebral Small Vessel Disease with Ischemic Tendancy CL4012
Col4a1-Related Brain Small-Vessel Disease CL4005
Col4a1-Related Disorders CL4001
Col4a1-Related Familial Vascular Leukoencephalopathy CL4009 BSVD
Colchicine Poisoning CLC053
Colchicine Resistance CLC008 CLCS
Cold Agglutinin Disease CLD007 CAD
Cold Urticaria CLD011
Cold-Induced Sweating Syndrome CLD003 CISS
Cold-Induced Sweating Syndrome 3 CLD017
Cold-Induced Sweating Syndrome Including Crisponi Syndrome CLD004
Cold-Induced Sweating Syndrome-Hyperthermia Spectrum CLD015
Cole Disease CLD014 COLED
Cole-Carpenter Syndrome CLC057
Cole-Carpenter Syndrome 1 CLC056 CLCRP1
Cole-Carpenter Syndrome 2 CLC055 CLCRP2
Colitis CLT003
Collagen Disease CLL015
Collagen Type Iii Glomerulopathy CLL035
Collagen Type Vi-Related Disorders CLL018
Collagen Vi Related Muscular Dystrophy CLL037
Collagen Vi-Related Myopathy CLL038
Collagenoma, Familial Cutaneous CLL041
Collagenopathy, Types Ii and Xi CLL016
Collagenosis, Familial Reactive Perforating CLL039 RPC
Collagenous Colitis CLL021
Collagenous Gastritis CLL026
Collagen-Related Glomerular Basement Membrane Disease CLL042
Collecting Duct Carcinoma CLL002 BDC
Collins Pope Syndrome CLL022
Collins Sakati Syndrome CLL023
Colloid Adenoma CLL011
Colloid Carcinoma of the Pancreas CLL009
Colloid Cysts of Third Ventricle CLL024
Coloboma of Eye Lens CLB008
Coloboma of Eyelid CLB018
Coloboma of Inferior Eyelid CLB023
Coloboma of Iris CLB009
Coloboma of Macula CLB010
Coloboma of Macula and Skeletal Anomalies CLB032
Coloboma of Macula with Type B Brachydactyly CLB011
Coloboma of Optic Nerve CLB003 COLON
Coloboma of Optic Papilla CLB012
Coloboma of Superior Eyelid CLB024
Coloboma Porencephaly Hydronephrosis CLB013
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome CLB017 CHIME
Coloboma, Ocular, Autosomal Dominant CLB034 COAD
Coloboma, Ocular, Autosomal Recessive CLB022 COAR
Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation CLB021 COB1
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness CLB033 COMMAD
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome CLB031
Colobomata Unilobar Lung Heart Defect CLB015
Colobomatous Microphthalmia CLB026 MAC
Colon Adenocarcinoma CLN015
Colon Adenoma CLN044
Colon Carcinoma in Situ CLN004
Colon Kaposi Sarcoma CLN007
Colon Leiomyoma CLN011
Colon Leiomyosarcoma CLN012
Colon Lymphoma CLN005
Colon Mucinous Adenocarcinoma CLN002
Colon Neuroendocrine Neoplasm CLN014
Colon Sarcoma CLN018
Colon Signet Ring Adenocarcinoma CLN001
Colon Small Cell Carcinoma CLN008
Colon Squamous Cell Carcinoma CLN009
Colonic Atresia CLN022
Colonic Benign Neoplasm CLN045
Colonic Disease CLN019
Colonic L-Cell Glucagon-Like Peptide Producing Tumor CLN013
Colonic Lymphangioma CLN010
Colonic Malakoplakia CLN023
Colonic Pseudo-Obstruction CLN006
Colonic Varices Without Portal Hypertension CLN048
Color Agnosia CLR009
Color Blindness CLR019
Color Vision Deficiency CLR033
Colorado Tick Fever CLR007
Colorblindness, Partial, Deutan Series CLR132 CBD
Colorblindness, Partial, Protan Series CLR133 CBP
Colorectal Adenocarcinoma CLR109
Colorectal Adenoma CLR108
Colorectal Cancer CLR023 CRC
Colorectal Cancer 1 CLR085 CRCS1
Colorectal Cancer 10 CLR077 CRCS10
Colorectal Cancer 11 CLR078 CRCS11
Colorectal Cancer 12 CLR087 CRCS12
Colorectal Cancer 2 CLR079 CRCS2
Colorectal Cancer 3 CLR075 CRCS3
Colorectal Cancer 5 CLR080 CRCS5
Colorectal Cancer 6 CLR081 CRCS6
Colorectal Cancer 7 CLR082 CRCS7
Colorectal Cancer 8 CLR083 CRCS8
Colorectal Cancer 9 CLR084 CRCS9
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 CLR041 HNPCC2
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 CLR039 HNPCC4
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 CLR037 HNPCC5
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 CLR055 HNPCC6
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 CLR100 HNPCC7
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 CLR089 HNPCC8
Colpocephaly CLP002
Columnar Cell Variant Papillary Carcinoma CLM001
Colver Steer Godman Syndrome CLV006
Combarros Calleja Leno Syndrome CMB010
Combat Disorder CMB002
Combined Cellular and Humoral Immune Defects with Granulomas CMB022 CCHIDG
Combined D-2- and L-2-Hydroxyglutaric Aciduria CMB040 D2L2AD
Combined Dystonia CMB094
Combined Hamartoma of the Retina and Retinal Pigment Epithelium CMB069
Combined Hepatocellular Carcinoma and Cholangiocarcinoma CMB089
Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves CMB029
Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia CMB083 CIMAH
Combined Immunodeficiency Due to Crac Channel Dysfunction CMB055
Combined Immunodeficiency, X-Linked CMB081 CIDX
Combined Inflammatory and Immunologic Defect CMB080
Combined Malonic and Methylmalonic Aciduria CMB011 CMAMMA
Combined Oxidative Phosphorylation Deficiency CMB008
Combined Oxidative Phosphorylation Deficiency 1 CMB012 COXPD1
Combined Oxidative Phosphorylation Deficiency 10 CMB025 COXPD10
Combined Oxidative Phosphorylation Deficiency 11 CMB046 COXPD11
Combined Oxidative Phosphorylation Deficiency 12 CMB026 COXPD12
Combined Oxidative Phosphorylation Deficiency 13 CMB041 COXPD13
Combined Oxidative Phosphorylation Deficiency 14 CMB044 COXPD14
Combined Oxidative Phosphorylation Deficiency 15 CMB048 COXPD15
Combined Oxidative Phosphorylation Deficiency 16 CMB042 COXPD16
Combined Oxidative Phosphorylation Deficiency 17 CMB049 COXPD17
Combined Oxidative Phosphorylation Deficiency 18 CMB047 COXPD18
Combined Oxidative Phosphorylation Deficiency 19 CMB045 COXPD19
Combined Oxidative Phosphorylation Deficiency 2 CMB013 COXPD2
Combined Oxidative Phosphorylation Deficiency 20 CMB052 COXPD20
Combined Oxidative Phosphorylation Deficiency 21 CMB051 COXPD21
Combined Oxidative Phosphorylation Deficiency 22 CMB053 COXPD22
Combined Oxidative Phosphorylation Deficiency 23 CMB054 COXPD23
Combined Oxidative Phosphorylation Deficiency 24 CMB064 COXPD24
Combined Oxidative Phosphorylation Deficiency 25 CMB063 COXPD25
Combined Oxidative Phosphorylation Deficiency 26 CMB065 COXPD26
Combined Oxidative Phosphorylation Deficiency 27 CMB071 COXPD27
Combined Oxidative Phosphorylation Deficiency 28 CMB072 COXPD28
Combined Oxidative Phosphorylation Deficiency 29 CMB079 COXPD29
Combined Oxidative Phosphorylation Deficiency 3 CMB014 COXPD3
Combined Oxidative Phosphorylation Deficiency 30 CMB077 COXPD30
Combined Oxidative Phosphorylation Deficiency 31 CMB076 COXPD31
Combined Oxidative Phosphorylation Deficiency 32 CMB078 COXPD32
Combined Oxidative Phosphorylation Deficiency 33 CMB082 COXPD33
Combined Oxidative Phosphorylation Deficiency 34 CMB084 COXPD34
Combined Oxidative Phosphorylation Deficiency 35 CMB085 COXPD35
Combined Oxidative Phosphorylation Deficiency 36 CMB086 COXPD36
Combined Oxidative Phosphorylation Deficiency 37 CMB087 COXPD37
Combined Oxidative Phosphorylation Deficiency 38 CMB090 COXPD38
Combined Oxidative Phosphorylation Deficiency 39 CMB091 COXPD39
Combined Oxidative Phosphorylation Deficiency 4 CMB015 COXPD4
Combined Oxidative Phosphorylation Deficiency 40 CMB096 COXPD40
Combined Oxidative Phosphorylation Deficiency 41 CMB097 COXPD41
Combined Oxidative Phosphorylation Deficiency 42 CMB098 COXPD42
Combined Oxidative Phosphorylation Deficiency 43 CMB099 COXPD43
Combined Oxidative Phosphorylation Deficiency 44 CMB100 COXPD44
Combined Oxidative Phosphorylation Deficiency 5 CMB016 COXPD5
Combined Oxidative Phosphorylation Deficiency 6 CMB017 COXPD6
Combined Oxidative Phosphorylation Deficiency 7 CMB018 COXPD7
Combined Oxidative Phosphorylation Deficiency 8 CMB019 COXPD8
Combined Oxidative Phosphorylation Deficiency 9 CMB043 COXPD9
Combined Pituitary Hormone Deficiencies, Genetic Forms CMB062
Combined Pulmonary Fibrosis-Emphysema Syndrome CMB039 CPFE
Combined Saposin Deficiency CMB020 CSAPD
Combined T and B Cell Immunodeficiency CMB095
Combined T Cell and B Cell Immunodeficiency CMB003
Combined Thymoma CMB001
Comedo Carcinoma CMD001
Comedones, Familial Dyskeratotic CMD004
Commensal Bacterial Infectious Disease CMM006
Commissural Lip Fistula CMM016
Commissural Lip Pits CMM025
Common Bile Duct Disease CMM007
Common Bile Duct Neoplasm CMM001
Common Cold CMM005
Common Cystic Lymphatic Malformation CMM026
Common Mesentery CMM018
Common Peroneal Nerve Lesion CMM002
Common Variable Immunodeficiency CMM004 CVID
Common Wart CMM003
Communicating Congenital Bronchopulmonary-Foregut Malformation CMM017
Communicating Hydrocephalus CMM008
Compartment Syndrome CMP008
Compensatory Emphysema CMP003
Complement Component 2 Deficiency CMP028 C2D
Complement Component 3 Deficiency CMP064
Complement Component 3 Deficiency, Autosomal Recessive CMP090 C3D
Complement Component 4, Partial Deficiency of CMP040
Complement Component 4a Deficiency CMP095 C4AD
Complement Component 4b Deficiency CMP094 C4BD
Complement Component 5 Deficiency CMP007 C5D
Complement Component 6 Deficiency CMP089 C6D
Complement Component 7 Deficiency CMP087 C7D
Complement Component 8 Deficiency CMP066
Complement Component 8 Deficiency, Type I CMP093 C8D1
Complement Component 8 Deficiency, Type Ii CMP092 C8D2
Complement Component 9 Deficiency CMP060 C9D
Complement Component C1r/c1s Deficiency CMP086
Complement Component C1s Deficiency CMP091 C1SD
Complement Component Deficiency CMP031
Complement Component Receptor 1 CMP032
Complement Deficiency CMP009
Complement Factor B Deficiency CMP063 CFBD
Complement Factor D Deficiency CMP041 CFDD
Complement Factor H Deficiency CMP042 CFHD
Complement Factor I Deficiency CMP004 CFID
Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy CMP080 CHAPLE
Complement Receptor Deficiency CMP033
Complete Androgen Insensitivity Syndrome CMP034 CAIS
Complete Atrioventricular Canal CMP035 CAVC
Complete Atrioventricular Septal Defect with Ventricular Hypoplasia CMP104
Complete Atrioventricular Septal Defect Without Ventricular Hypoplasia CMP105
Complete Atrioventricular Septal Defect-Tetralogy of Fallot CMP103
Complete Cryptophthalmia CMP057
Complete Generalized Lipodystrophy CMP096
Complete Hemimelia CMP099
Complete Plasminogen Activator Inhibitor 1 Deficiency CMP083
Complete Septate Uterus CMP079
Complex Chromosomal Rearrangement CMP097
Complex Cortical Dysplasia with Other Brain Malformations CMP082 CDCBM
Complex Hereditary Spastic Paraplegia CMP101
Complex Partial Epilepsy CMP006
Complex Regional Pain Syndrome CMP010 CRPS
Complex Vascular Malformation with Associated Anomalies CMP098
Complication After Organ Transplantation CMP062
Complication in Hemodialysis CMP052
Complications After Hematopoietic Stem Cell Transplantation CMP102
Composite Hemangioendothelioma CMP077
Composite Lymphoma CMP001
Condensing Osteitis of the Clavicle CND008
Condrodisplasia Punctata Rizomélica CND032
Conduct Disorder CND002
Cone Dystrophy CND005
Cone Dystrophy 3 CND011 COD3
Cone Dystrophy 4 CND012 COD4
Cone Dystrophy, X-Linked, with Tapetal-Like Sheen CND035
Cone-Rod Dystrophy 1 CNR003 CORD1
Cone-Rod Dystrophy 10 CNR021 CORD10
Cone-Rod Dystrophy 11 CNR012 CORD11
Cone-Rod Dystrophy 12 CNR013 CORD12
Cone-Rod Dystrophy 13 CNR024 CORD13
Cone-Rod Dystrophy 15 CNR025 CORD15
Cone-Rod Dystrophy 16 CNR014 CORD16
Cone-Rod Dystrophy 17 CNR027 CORD17
Cone-Rod Dystrophy 18 CNR026 CORD18
Cone-Rod Dystrophy 19 CNR029 CORD19
Cone-Rod Dystrophy 2 CNR004 CORD2
Cone-Rod Dystrophy 20 CNR030 CORD20
Cone-Rod Dystrophy 21 CNR032 CORD21
Cone-Rod Dystrophy 3 CNR005 CORD3
Cone-Rod Dystrophy 5 CNR006 CORD5
Cone-Rod Dystrophy 6 CNR007 CORD6
Cone-Rod Dystrophy 7 CNR016 CORD7
Cone-Rod Dystrophy 8 CNR023 CORD8
Cone-Rod Dystrophy 9 CNR017 CORD9
Cone-Rod Dystrophy and Hearing Loss 1 CNR040 CRDHL1
Cone-Rod Dystrophy and Hearing Loss 2 CNR041 CRDHL2
Cone-Rod Dystrophy, X-Linked, 1 CNR031 CORDX1
Cone-Rod Dystrophy, X-Linked, 2 CNR039 CORDX2
Cone-Rod Dystrophy, X-Linked, 3 CNR038 CORDX3
Cone-Rod Synaptic Disorder, Congenital Nonprogressive CNR033 CRSD
Confetti-Like Macular Atrophy CNF001
Congenital Abducens Nerve Palsy CNG458
Congenital Absence of Both Forearm and Hand CNG287
Congenital Absence of Both Lower Leg and Foot CNG290
Congenital Absence of the Sternocleidomastoid Muscle CNG050
Congenital Absence of Thigh and Lower Leg with Foot Present CNG286
Congenital Absence of Upper Arm and Forearm with Hand Present CNG288
Congenital Achiasma CNG272
Congenital Agenesis of the Scrotum CNG517
Congenital Alacrima CNG595
Congenital Amputation CNG053
Congenital Amyoplasia CNG506
Congenital Aneurysms of the Great Vessels CNG054
Congenital Anomalies of Kidney and Urinary Tract 1 CNG509 CAKUT1
Congenital Anomalies of Kidney and Urinary Tract 2 CNG499 CAKUT2
Congenital Anomalies of Kidney and Urinary Tract 3 CNG540 CAKUT3
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay CNG495 CAKUTHED
Congenital Anomaly of Hepatic Vein CNG340
Congenital Anomaly of Superior Vena Cava CNG345
Congenital Anomaly of the Coronary Sinus CNG341
Congenital Anomaly of the Great Arteries CNG602
Congenital Anomaly of the Great Veins CNG574
Congenital Anomaly of the Inferior Vena Cava CNG344
Congenital Anomaly of the Tricuspid Valve Chordae CNG537
Congenital Aortic Valve Atresia CNG592
Congenital Aortic Valve Dysplasia CNG606
Congenital Aortic Valve Stenosis CNG009
Congenital Aortopulmonary Window CNG455
Congenital Aphakia CNG005
Congenital Aplastic Anemia CNG619
Congenital Arteriovenous Fistula CNG600
Congenital Arteriovenous Shunt CNG059
Congenital Arthrogryposis with Anterior Horn Cell Disease CNG538 CAAHD
Congenital Articular Rigidity CNG060
Congenital Autosomal Recessive Small-Platelet Thrombocytopenia CNG613 CARST
Congenital Axonal Neuropathy with Encephalopathy CNG544
Congenital Benign Spinal Muscular Atrophy Dominant CNG061
Congenital Bilateral Megacalycosis CNG331
Congenital Bile Acid Synthesis Defect CNG002 CBA
Congenital Brachyesophagus-Intrathoracic Stomach-Vertebral Anomalies Syndrome CNG535
Congenital Bronchobiliary Fistula CNG062
Congenital Cardiovascular Shunt CNG063
Congenital Cataracts, Facial Dysmorphism, and Neuropathy CNG041 CCFDN
Congenital Cataracts, Hearing Loss, and Neurodegeneration CNG382 CCHLND
Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome CNG533
Congenital Cerebellar Ataxia Due to Rnu12 Mutation CNG534
Congenital Cervical Spinal Stenosis CNG516
Congenital Chloride Diarrhea CNG064 CLD
Congenital Communicating Hydrocephalus CNG253
Congenital Complete Agenesis of Pericardium CNG354
Congenital Contractures CNG065
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay CNG437 CLIFAHDD
Congenital Cornea Plana CNG433
Congenital Corneal Opacities, Cornea Guttata, and Corectopia CNG508
Congenital Coronary Artery Aneurysm CNG343
Congenital Craniosynostosis Maternal Hyperthyroiditis CNG066
Congenital Cystic Eye CNG067 CCE
Congenital Cystic Eye Multiple Ocular and Intracranial Anomalies CNG068
Congenital Cytomegalovirus CNG069
Congenital Deformities of Fingers CNG576
Congenital Deformities of Limbs CNG577
Congenital Diarrhea CNG478
Congenital Diarrhea 7 with Exudative Enteropathy CNG480
Congenital Dislocation of the Patella CNG070
Congenital Disorder of Deglycosylation CNG436 CDDG
Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature CNG569
Congenital Disorder of Glycosylation with Deafness As a Major Feature CNG582
Congenital Disorder of Glycosylation with Defective Fucosylation 1 CNG539 CDGF1
Congenital Disorder of Glycosylation with Defective Fucosylation 2 CNG541 CDGF2
Congenital Disorder of Glycosylation with Developmental Anomaly CNG438
Congenital Disorder of Glycosylation with Dilated Cardiomyopathy CNG570
Congenital Disorder of Glycosylation with Epilepsy As a Major Feature CNG568
Congenital Disorder of Glycosylation with Hepatic Involvement CNG573
Congenital Disorder of Glycosylation with Intestinal Involvement CNG572
Congenital Disorder of Glycosylation with Nephropathy As a Major Feature CNG580
Congenital Disorder of Glycosylation with Neurological Involvement CNG567
Congenital Disorder of Glycosylation with Skin Involvement CNG581
Congenital Disorder of Glycosylation, Type I/iix CNG507 CDG-X
Congenital Disorder of Glycosylation, Type Ia CNG415 CDG1A
Congenital Disorder of Glycosylation, Type Iaa CNG512 CDG1AA
Congenital Disorder of Glycosylation, Type Ib CNG189 CDG1B
Congenital Disorder of Glycosylation, Type Ic CNG196 CDG1C
Congenital Disorder of Glycosylation, Type Icc CNG607 CDG1CC
Congenital Disorder of Glycosylation, Type Id CNG195 CDG1D
Congenital Disorder of Glycosylation, Type Ie CNG206 CDG1E
Congenital Disorder of Glycosylation, Type if CNG188 CDG1F
Congenital Disorder of Glycosylation, Type Ig CNG194 CDG1G
Congenital Disorder of Glycosylation, Type Ih CNG197 CDG1H
Congenital Disorder of Glycosylation, Type Iia CNG191 CDG2A
Congenital Disorder of Glycosylation, Type Iib CNG190 CDG2B
Congenital Disorder of Glycosylation, Type Iic CNG208 CDG2C
Congenital Disorder of Glycosylation, Type Iid CNG187 CDG2D
Congenital Disorder of Glycosylation, Type Iif CNG209 CDG2F
Congenital Disorder of Glycosylation, Type Iig CNG185 CDG2G
Congenital Disorder of Glycosylation, Type Iih CNG204 CDG2H
Congenital Disorder of Glycosylation, Type Iii CNG203 CDG2I
Congenital Disorder of Glycosylation, Type Iij CNG201 CDG2J
Congenital Disorder of Glycosylation, Type Iik CNG383 CDG2K
Congenital Disorder of Glycosylation, Type Iil CNG414 CDG2L
Congenital Disorder of Glycosylation, Type Iim CNG389 CDG2M
Congenital Disorder of Glycosylation, Type Iin CNG498 CDG2N
Congenital Disorder of Glycosylation, Type Iio CNG497 CDG2O
Congenital Disorder of Glycosylation, Type Iip CNG504 CDG2P
Congenital Disorder of Glycosylation, Type Iiq CNG496 CDG2Q
Congenital Disorder of Glycosylation, Type Iir CNG615 CDG2R
Congenital Disorder of Glycosylation, Type Iit CNG617 CDG2T
Congenital Disorder of Glycosylation, Type Ij CNG205 CDG1J
Congenital Disorder of Glycosylation, Type Ik CNG192 CDG1K
Congenital Disorder of Glycosylation, Type Il CNG198 CDG1L
Congenital Disorder of Glycosylation, Type Im CNG199 CDG1M
Congenital Disorder of Glycosylation, Type in CNG411 CDG1N
Congenital Disorder of Glycosylation, Type Ip CNG193 CDG1P
Congenital Disorder of Glycosylation, Type Iq CNG200 CDG1Q
Congenital Disorder of Glycosylation, Type Ir CNG378 CDG1R
Congenital Disorder of Glycosylation, Type It CNG379 CDG1T
Congenital Disorder of Glycosylation, Type Iu CNG386 CDG1U
Congenital Disorder of Glycosylation, Type Iw CNG388 CDG1W
Congenital Disorder of Glycosylation, Type Ix CNG403 CDG1X
Congenital Disorder of Glycosylation, Type Iy CNG416 CDG1Y
Congenital Disorder of Glycosylation-Related Bone Disorder CNG571
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway CNG486
Congenital Dyserythropoietic Anemia CNG003 CDA
Congenital Ectodermal Dysplasia with Hearing Loss CNG091
Congenital Ectropion CNG596
Congenital Ectropion Uveae CNG335
Congenital Elbow Dislocation, Bilateral CNG321
Congenital Elbow Dislocation, Unilateral CNG322
Congenital Enterocyte Heparan Sulfate Deficiency CNG363
Congenital Enteropathy Involving Intestinal Mucosa Development CNG603
Congenital Enterovirus Infection CNG260
Congenital Epstein-Barr Virus Infection CNG327
Congenital Epulis CNG004
Congenital Erosive and Vesicular Dermatosis CNG265 CEVD
Congenital Esophageal Diverticulum CNG334
Congenital Extrahepatic Portosystemic Shunt CNG092 CEPS
Congenital Eyelid Retraction CNG355
Congenital Femoral Deficiency CNG529
Congenital Fiber-Type Disproportion CNG046 CFTD
Congenital Fibrosarcoma CNG023
Congenital Generalized Hypercontractile Muscle Stiffness Syndrome CNG493
Congenital Generalized Lipodystrophy CNG012 GCL
Congenital Genu Flexum CNG317
Congenital Genu Recurvatum CNG318
Congenital Gerbode Defect CNG519
Congenital Giant Megaureter CNG097 CGM
Congenital Granular Cell Tumor CNG022
Congenital Heart Defects and Ectodermal Dysplasia CNG503 CHDED
Congenital Heart Defects and Skeletal Malformations Syndrome CNG502 CHDSKM
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder CNG501 CHDFIDD
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly CNG410 CHDTHP
Congenital Heart Defects, Multiple Types, 2 CNG511 CHTD2
Congenital Heart Defects, Multiple Types, 3 CNG385 CHTD3
Congenital Heart Defects, Multiple Types, 4 CNG404 CHTD4
Congenital Heart Defects, Multiple Types, 5 CNG521 CHTD5
Congenital Heart Defects, Multiple Types, 6 CNG520 CHTD6
Congenital Heart Defects, Multiple Types, 7 CNG616 CHTD7
Congenital Heart Disease Ptosis Hypodontia Craniostosis CNG098
Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation CNG099
Congenital Hemangioma CNG578
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects CNG184 CHILD
Congenital Hemolytic Anemia CNG027
Congenital Hepatic Fibrosis CNG048 CHF
Congenital Hereditary Endothelial Dystrophy Type I CNG400 CHED1
Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome CNG490
Congenital Herpes Simplex CNG100
Congenital Human Immunodeficiency Virus CNG101
Congenital Hydrocephalus CNG216
Congenital Hypogammaglobulinemia CNG020
Congenital Hypogonadotropic Hypogonadism CNG562
Congenital Hypopituitarism CNG608
Congenital Hypoplasia of Thumb CNG610
Congenital Hypothyroidism CNG006 CH
Congenital Hypothyroidism Due to Developmental Anomaly CNG591
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs CNG263
Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies CNG543
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies CNG545 CHEDDA
Congenital Hypotrichosis Milia CNG103
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome CNG467
Congenital Insensitivity to Pain with Hyperhidrosis CNG261
Congenital Insensitivity to Pain with Severe Intellectual Disability CNG472
Congenital Intestinal Disease Due to an Enzymatic Defect CNG604
Congenital Intestinal Transport Defect CNG605
Congenital Intrauterine Infection-Like Syndrome CNG418
Congenital Intrinsic Factor Deficiency CNG016 IFD
Congenital Joint Dislocations CNG575
Congenital Knee Dislocation CNG282
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome CNG518
Congenital Laryngeal Cyst CNG244
Congenital Laryngeal Palsy CNG241
Congenital Left Ventricular Aneurysm CNG609
Congenital Limb Malformation CNG587
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi CNG510 CLOVE
Congenital Lymphedema CNG439
Congenital Malformation of the Eye with Glaucoma As a Major Feature CNG598
Congenital Malformation of the Eyelid CNG597
Congenital Megacalycosis CNG330
Congenital Megalo-Ureter CNG106
Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization CNG542 FMAIG
Congenital Mesoblastic Nephroma CNG029
Congenital Methemoglobinemia CNG223
Congenital Microgastria CNG235
Congenital Mitral Malformation CNG107
Congenital Mitral Stenosis CNG108
Congenital Mitral Valve Insufficiency and/or Stenosis CNG593
Congenital Mumps CNG110
Congenital Muscular Dystrophy Due to Dystroglycanopathy CNG441
Congenital Muscular Dystrophy with Cerebellar Involvement CNG426
Congenital Muscular Dystrophy with Hyperlaxity CNG393 CMDH
Congenital Muscular Dystrophy with Intellectual Disability CNG427
Congenital Muscular Dystrophy Without Intellectual Disability CNG428
Congenital Muscular Dystrophy-Dystroglycanopathy A14 CNG550
Congenital Muscular Dystrophy-Dystroglycanopathy A7 CNG551
Congenital Muscular Dystrophy-Dystroglycanopathy Type a CNG546 MDDGA
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 CNG554
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 CNG556
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 CNG547
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 CNG552
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 CNG555
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 CNG557
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 CNG553
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 CNG558
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 CNG559
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 CNG548
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 CNG549
Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability CNG443
Congenital Myasthenic Syndrome CNG001 CMS
Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency CNG113
Congenital Myasthenic Syndrome with Episodic Apnea CNG114 FIM
Congenital Myasthenic Syndromes with Glycosylation Defect CNG429
Congenital Myopathy with Cores CNG563
Congenital Myopathy with Myasthenic-Like Onset CNG459
Congenital Myopathy, Paradas Type CNG234
Congenital Myxovirus CNG444
Congenital Nemaline Myopathy CNG579
Congenital Nephrotic Syndrome Finnish Type CNG116 CNF
Congenital Nervous System Abnormality CNG031
Congenital Nonhemolytic Jaundice CNG117
Congenital Nonspherocytic Hemolytic Anemia CNG017 HNSHA
Congenital Nystagmus CNG024
Congenital Nystagmus 1 CNG618 NYS1
Congenital Oculomotor Nerve Palsy CNG457
Congenital Optic Disc Excavation CNG588
Congenital Optic Disc Excavation of Genetic Origin CNG589
Congenital Pancreatic Cyst CNG298
Congenital Panfollicular Nevus CNG238
Congenital Partial Agenesis of Pericardium CNG353
Congenital Partial Pulmonary Venous Return Anomaly CNG351
Congenital Patent Ductus Arteriosus Aneurysm CNG349
Congenital Pericardium Anomaly CNG251
Congenital Plasminogen Deficiency CNG171
Congenital Portosystemic Shunt CNG491
Congenital Primary Lymphedema of Gordon CNG614
Congenital Primary Lymphedema Without Systemic or Visceral Involvement CNG612
Congenital Primary Megaureter CNG326
Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form CNG268
Congenital Primary Megaureter, Obstructed Form CNG270
Congenital Primary Megaureter, Refluxing and Obstructed Form CNG585
Congenital Primary Megaureter, Refluxing Form CNG269
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome CNG530
Congenital Pseudoarthrosis CNG120
Congenital Pseudoarthrosis of the Femur CNG283
Congenital Pseudoarthrosis of the Fibula CNG277
Congenital Pseudoarthrosis of the Limbs CNG391
Congenital Pseudoarthrosis of the Radius CNG278
Congenital Pseudoarthrosis of the Tibia CNG284
Congenital Pseudoarthrosis of the Ulna CNG279
Congenital Ptosis CNG513
Congenital Pulmonary Airway Malformation Type 0 CNG406
Congenital Pulmonary Airway Malformation Type 1 CNG398
Congenital Pulmonary Airway Malformation Type 2 CNG396
Congenital Pulmonary Airway Malformation Type 3 CNG397
Congenital Pulmonary Airway Malformation Type 4 CNG405
Congenital Pulmonary Alveolar Proteinosis CNG121
Congenital Pulmonary Artery Branch Stenosis CNG560
Congenital Pulmonary Sequestration CNG257
Congenital Pulmonary Veins Anomaly CNG599
Congenital Pulmonary Veins Atresia or Stenosis CNG392
Congenital Pulmonary Venous Return Anomaly CNG249
Congenital Renal Artery Stenosis CNG337
Congenital Respiratory-Biliary Fistula CNG564
Congenital Retinal Arteriovenous Communication CNG395
Congenital Rubella CNG124 CRS
Congenital Secondary Polycythemia CNG266
Congenital Short Bowel Syndrome CNG413 CSBS
Congenital Sialidosis Type 2 CNG348
Congenital Smooth Muscle Hamartoma CNG248
Congenital Stationary Night Blindness CNG010
Congenital Stenosis of Cervical Medullary Canal CNG126
Congenital Stenosis of the Inferior Vena Cava CNG352
Congenital Structural Myopathy CNG032
Congenital Subglottic Stenosis CNG243
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 Supravalvular Mitral Ring CNG361
Congenital Symblepharon CNG357
Congenital Syphilis CNG033
Congenital Systemic Arteriovenous Fistula CNG476
Congenital Systemic Veins Anomaly CNG565
Congenital Temporomandibular Joint Ankylosis CNG255
Congenital Thyroid Malformation Without Hypothyroidism CNG594
Congenital Torticollis CNG129
Congenital Toxoplasmosis CNG021
Congenital Tricuspid Malformation CNG601
Congenital Tricuspid Stenosis CNG347
Congenital Tricuspid Valve Dysplasia CNG586
Congenital Trochlear Nerve Palsy CNG362
Congenital Unguarded Mitral Orifice CNG360
Congenital Unilateral Pulmonary Hypoplasia CNG131
Congenital Urachal Anomaly CNG583
Congenital Vagal Hyperreflexivity CNG132
Congenital Varicella Syndrome CNG133
Congenital Vascular Bone Syndrome CNG566
Congenital Vascular Cavernous Malformations CNG172
Congenital Vertebral-Cardiac-Renal Anomalies Syndrome CNG532
Congenital Vertical Talus, Bilateral CNG316
Congenital Vertical Talus, Unilateral CNG315
Congenital Vitamin K-Dependent Coagulation Factors Deficiency CNG561
Congenital Zika Syndrome CNG515
Congenitally Corrected Transposition of the Great Arteries CNG134
Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation CNG259
Congenitally Uncorrected Transposition of the Great Arteries with Coarctation CNG359
Congestive Heart Failure CNG034 CHF
Conidiobolomycosis CND001
Conjugate Gaze Palsy CNJ001
Conjunctival Cancer CNJ009
Conjunctival Concretion CNJ008
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
Conjunctival Vascular Disease CNJ005
Conjunctivitis CNJ013
Conjunctivitis with Pseudomembrane CNJ015
Conjunctivochalasis CNJ007
Connective Tissue Benign Neoplasm CNN010
Connective Tissue Cancer CNN004
Connective Tissue Disease CNN005
Conn's Syndrome CNN003
Cono-Spondylar Dysplasia CNS012
Conotruncal Heart Malformations CNT061 CTHM
Constant Exophthalmos CNS003
Constipation CNS004
Constitutional Anemia Due to Iron Metabolism Disorder CNS020
Constitutional Deficiency Anemia CNS014
Constitutional Dyserythropoietic Anemia CNS010
Constitutional Hemolytic Anemia Due to Acanthocytosis CNS018
Constitutional Megaloblastic Anemia Due to Folate Metabolism Disorder CNS017
Constitutional Megaloblastic Anemia Due to Vitamin B12 Metabolism Disorder CNS016
Constitutional Neutropenia CNS021
Constitutional Neutropenia with Extra-Hematopoietic Manifestations CNS015
Constitutional Sideroblastic Anemia CNS019
Constricting Bands, Congenital CNS013 ABS
Constrictive Pericarditis CNS002
Contact Blepharoconjunctivitis CNT011
Contact Dermatitis CNT047
Contact Lens Corneal Edema CNT008
Contagious Pustular Dermatitis CNT001 ORF
Continuous Spike-Wave During Slow Sleep Syndrome CNT063 CSWS
Contractural Arachnodactyly, Congenital CNT099 CCA
Contractures, Congenital, Torticollis, and Malignant Hyperthermia CNT104
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a CNT116 CPSFS1A
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b CNT117 CPSFS1B
Contractures-Developmental Delay-Pierre Robin Syndrome CNT102
Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome CNT081
Conus Medullaris Neoplasm CNS001
Conventional Angiosarcoma CNV001
Conventional Central Osteosarcoma CNV007
Conventional Fibrosarcoma CNV003
Conventional Leiomyosarcoma CNV006
Conventional Malignant Hemangiopericytoma CNV005
Conversion Disorder CNV002 FND
Convulsions Benign Familial Neonatal Dominant Form CNV009
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis CNV018 ICCA
Convulsive Disorder, Familial, with Prenatal or Early Onset CNV019
Copper Deficiency Myelopathy CPP004
Copper Deficiency, Familial Benign CPP001
Coproporphyria, Hereditary CPR004 HCP
Coq-Responsive Oxphos Deficiency CQR001
Cor Biloculare CRB080
Cor Triatriatum CRT028
Cor Triatriatum Dexter CRT061
Cor Triatriatum Sinister CRT060
Coracoclavicular Joint, Anomalous CRC041
Core Binding Factor Acute Myeloid Leukemia CRB138
Cork-Handlers' Disease CRK001
Cormier Rustin Munnich Syndrome CRM005
Cornea Cancer CRN021
Cornea Guttata with Anterior Polar Cataracts CRN283
Cornea Plana CRN249
Cornea Plana 1, Autosomal Dominant CRN279 CNA1
Cornea Plana 2, Autosomal Recessive CRN280 CNA2
Cornea Squamous Cell Carcinoma CRN001
Corneal Abscess CRN004
Corneal Argyrosis CRN002
Corneal Degeneration CRN022
Corneal Degeneration, Band-Shaped Spheroid CRN289
Corneal Degeneration, Ribbonlike, with Deafness CRN284
Corneal Deposit CRN023
Corneal Disease CRN024
Corneal Dystrophy CRN025
Corneal Dystrophy and Perceptive Deafness CRN045 CDPD
Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation CRN064
Corneal Dystrophy Pigmentary Anomaly Malabsorption CRN066
Corneal Dystrophy, Avellino Type CRN237 CDA
Corneal Dystrophy, Band-Shaped CRN288
Corneal Dystrophy, Congenital Stromal CRN241 CSCD
Corneal Dystrophy, Endothelial, X-Linked CRN128 XECD
Corneal Dystrophy, Epithelial Basement Membrane CRN238 EBMD
Corneal Dystrophy, Fleck CRN285 CFD
Corneal Dystrophy, Fuchs Endothelial, 1 CRN233 FECD1
Corneal Dystrophy, Fuchs Endothelial, 2 CRN242 FECD2
Corneal Dystrophy, Fuchs Endothelial, 3 CRN120 FECD3
Corneal Dystrophy, Fuchs Endothelial, 4 CRN143 FECD4
Corneal Dystrophy, Fuchs Endothelial, 5 CRN121 FECD5
Corneal Dystrophy, Fuchs Endothelial, 6 CRN147 FECD6
Corneal Dystrophy, Fuchs Endothelial, 7 CRN122 FECD7
Corneal Dystrophy, Fuchs Endothelial, 8 CRN218 FECD8
Corneal Dystrophy, Gelatinous Drop-Like CRN106 GDLD
Corneal Dystrophy, Groenouw Type I CRN235 CDGG1
Corneal Dystrophy, Lattice Type I CRN236 CDL1
Corneal Dystrophy, Lattice Type Iiia CRN160 CDL3A
Corneal Dystrophy, Lisch Epithelial CRN126 LECD
Corneal Dystrophy, Meesmann, 1 CRN317 MECD1
Corneal Dystrophy, Meesmann, 2 CRN318 MECD2
Corneal Dystrophy, Posterior Amorphous CRN274 PACD
Corneal Dystrophy, Posterior Polymorphous, 1 CRN231 PPCD1
Corneal Dystrophy, Posterior Polymorphous, 2 CRN303 PPCD2
Corneal Dystrophy, Posterior Polymorphous, 3 CRN146 PPCD3
Corneal Dystrophy, Posterior Polymorphous, 4 CRN306 PPCD4
Corneal Dystrophy, Reis-Bucklers Type CRN141 CDRB
Corneal Dystrophy, Subepithelial Mucinous CRN273 SMCD
Corneal Dystrophy, Thiel-Behnke Type CRN247 CDTB
Corneal Ectasia CRN009
Corneal Edema CRN026
Corneal Endothelial Dystrophy CRN276 CHED
Corneal Endothelial Dystrophy Type 2 CRN068 CHED2
Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation CRN267
Corneal Hypesthesia, Familial CRN069
Corneal Intraepithelial Neoplasm CRN016
Corneal Neovascularization CRN027
Corneal Neuropathic Disease CRN305
Corneal Staphyloma CRN007
Corneal Ulcer CRN028
Cornelia De Lange Syndrome CRN015 BDLS
Cornelia De Lange Syndrome 1 CRN139 CDLS1
Cornelia De Lange Syndrome 2 CRN134 CDLS2
Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects CRN320 CDLS3
Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects CRN321 CDLS4
Cornelia De Lange Syndrome 5 CRN209 CDLS5
Corneodermatoosseous Syndrome CRN070
Corneodysgenesis CRN313
Coronal Synostosis, Syndactyly and Jejunal Atresia CRN071
Coronaro-Cardiac Fistula CRN072
Coronary Aneurysm CRN006
Coronary Arterial Fistula CRN308
Coronary Arteries Congenital Malformation CRN073
Coronary Artery Aneurysm CRN074
Coronary Artery Disease, Autosomal Dominant 2 CRN304 ADCAD2
Coronary Artery Disease, Autosomal Dominant, 1 CRN133 ADCAD1
Coronary Artery Dissection, Spontaneous CRN270
Coronary Artery Vasospasm CRN019
Coronary Heart Disease 1 CRN300 CHD
Coronary Heart Disease 2 CRN174 CHDS2
Coronary Heart Disease 3 CRN172 CHDS3
Coronary Heart Disease 4 CRN175 CHDS4
Coronary Heart Disease 5 CRN214 CHDS5
Coronary Heart Disease 6 CRN178 CHDS6
Coronary Heart Disease 7 CRN177 CHDS7
Coronary Heart Disease 8 CRN173 CHDS8
Coronary Heart Disease 9 CRN176 CHDS9
Coronary Ostial Stenosis or Atresia CRN311 COSA
Coronary Restenosis CRN020
Coronary Sinus Atresia CRN208
Coronary Sinus Stenosis CRN207
Coronary Stenosis CRN030
Coronary Thrombosis CRN017
Coronavirus Infectious Disease CRN322
Coronin-1a Deficiency CRN011
Corpus Callosum Agenesis of Blepharophimosis Robin Type CRP012
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome CRP036
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome CRP029
Corpus Callosum Dysgenesis Cleft Spasm CRP013
Corpus Callosum Dysgenesis Hypopituitarism CRP014
Corpus Callosum Dysgenesis X-Linked Recessive CRP015
Corpus Callosum Lipoma CRP003
Corpus Callosum Oligodendroglioma CRP024
Corpus Callosum, Agenesis of CRP032 ACC
Corpus Callosum, Agenesis of, with Abnormal Genitalia CRP033 ACCAG
Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia CRP030 CCAFCA
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence CRP028
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia CRP034 MRXS28
Corpus Callosum, Partial Agenesis of, X-Linked CRP035 ACCPX
Corpus Luteum Cyst CRP004
Cortada Koussef Matsumoto Syndrome CRT029
Cortes Lacassie Syndrome CRT030
Cortical Blindness CRT012
Cortical Blindness, Retardation, and Postaxial Polydactyly CRT080
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome CRT077
Cortical Deafness CRT007
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta CRT079
Cortical Dysplasia, Complex, with Other Brain Malformations 1 CRT070 CDCBM1
Cortical Dysplasia, Complex, with Other Brain Malformations 10 CRT089 CDCBM10
Cortical Dysplasia, Complex, with Other Brain Malformations 2 CRT067 CDCBM2
Cortical Dysplasia, Complex, with Other Brain Malformations 3 CRT068 CDCBM3
Cortical Dysplasia, Complex, with Other Brain Malformations 4 CRT071 CDCBM4
Cortical Dysplasia, Complex, with Other Brain Malformations 5 CRT073 CDCBM5
Cortical Dysplasia, Complex, with Other Brain Malformations 6 CRT074 CDCBM6
Cortical Dysplasia, Complex, with Other Brain Malformations 7 CRT081 CDCBM7
Cortical Dysplasia, Complex, with Other Brain Malformations 8 CRT082 CDCBM8
Cortical Dysplasia, Complex, with Other Brain Malformations 9 CRT087 CDCBM9
Cortical Malformations, Occipital CRT069 OCCM
Cortical Senile Cataract CRT003
Cortical Thymoma CRT005
Corticobasal Degeneration CRT033 CBGD
Corticosteroid Allergy CRT086
Corticosteroid-Binding Globulin Deficiency CRT046 CBG DEFICIENCY
Corticosteroid-Sensitive Aseptic Abscesses CRT034
Corticosterone Methyloxidase Deficiency CRT064
Corticosterone Methyloxidase Type I Deficiency CRT039 CMO-1 DEFICIENCY
Corticosterone Methyloxidase Type Ii Deficiency CRT040 CMO-2 DEFICIENCY
Cortisone Reductase Deficiency CRT020
Cortisone Reductase Deficiency 1 CRT065 CORTRD1
Cortisone Reductase Deficiency 2 CRT066 CORTRD2
Costello Syndrome CST001 CSTLO
Costocoracoid Ligament, Congenitally Short CST006
Cote Katsantoni Syndrome CTK001
Co-Trimoxazole Allergy CTR186
Cough Headache CGH002
Cough Variant Asthma CGH001
Coumarin Resistance CMR002 CMRES
Cousin Syndrome CSN001 COUSS
Covid-19 CVD001
Cow Milk Allergy CWM001
Cowden Syndrome CWD010 CD
Cowden Syndrome 1 CWD006 CWS1
Cowden Syndrome 4 CWD005 CWS4
Cowden Syndrome 5 CWD004 CWS5
Cowden Syndrome 6 CWD008 CWS6
Cowden Syndrome 7 CWD009 CWS7
Cowper Gland Carcinoma CWP002
Cowpox CWP001 YABA
Coxa Vara CXV002
Coxa Vara, Congenital CXV001
Coxoauricular Syndrome CXR001
C-P Angle Neurinoma CPN001
Crab Allergy CRB201
Cramp-Fasciculation Syndrome CRM010
Cramps, Familial Adolescent CRM011
Crandall Syndrome CRN075
Crane-Heise Syndrome CRN076
Cranial Malformation CRN310
Cranial Meningocele CRN194
Cranial Nerve and Nuclear Aplasia CRN315
Cranial Nerve Disease CRN031
Cranial Nerve Iii Tumor CRN032
Cranial Nerve Malignant Neoplasm CRN033
Cranial Nerve Neoplasm CRN034
Cranial Nerve Palsy CRN035
Cranial Nerves, Congenital Paresis of CRN290
Cranial Nerves, Recurrent Paresis of CRN291
Cranial Neuralgia CRN309
Cranial Pseudosarcomatous Fasciitis CRN003
Cranioacrofacial Syndrome CRN078
Craniodiaphyseal Dysplasia CRN013 CDD
Craniodiaphyseal Dysplasia, Autosomal Dominant CRN220 CDD
Cranioectodermal Dysplasia 1 CRN108 CED1
Cranioectodermal Dysplasia 2 CRN109 CED2
Cranioectodermal Dysplasia 3 CRN110 CED3
Cranioectodermal Dysplasia 4 CRN111 CED4
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation CRN269
Craniofacial and Skeletal Defects CRN080
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome CRN210 CAASDS
Craniofacial Anomaly with Cataract CRN312
Craniofacial Conodysplasia CRN204
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome CRN212 CFSMR
Craniofacial Dysostosis Arthrogryposis Progeroid Appearence CRN081
Craniofacial Dysostosis with Diaphyseal Hyperplasia CRN082
Craniofacial Dyssynostosis with Short Stature CRN266 BLSS
Cranio-Facial Dystonia CRN225
Craniofacial Microsomia CRN051 CFM
Craniofacial-Deafness-Hand Syndrome CRN048 CDHS
Craniofaciofrontodigital Syndrome CRN224
Craniofacioskeletal Syndrome CRN156
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome CRN307
Craniofrontonasal Syndrome CRN005 CFNS
Craniofrontonasal Syndrome Teebi Type CRN085
Craniolenticulosutural Dysplasia CRN049 CLSD
Craniometadiaphyseal Dysplasia CRN272 CRMDD
Craniometaphyseal Dysplasia, Autosomal Dominant CRN052 CMDD
Craniometaphyseal Dysplasia, Autosomal Recessive CRN240 CMDR
Craniomicromelic Syndrome CRN087
Craniopharyngioma CRN036
Craniorachischisis CRN088
Craniorhiny CRN192
Craniostenosis Cataract CRN089
Craniostenosis with Strabismus CRN314
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis CRN268
Craniosynostosis CRN037 CSO
Craniosynostosis 1 CRN278 CRS1
Craniosynostosis 2 CRN277 CRS2
Craniosynostosis 3 CRN217 CRS3
Craniosynostosis 4 CRN221 CRS4
Craniosynostosis 5 CRN216 CRS5
Craniosynostosis 6 CRN256 CRS6
Craniosynostosis 7 CRN281 CRS7
Craniosynostosis Alopecia Brain Defect CRN091
Craniosynostosis and Dental Anomalies CRN200 CRSDA
Craniosynostosis Arthrogryposis Cleft Palate CRN092
Craniosynostosis Autosomal Dominant CRN093
Craniosynostosis Cleft Lip Palate Arthrogryposis CRN094
Craniosynostosis Contractures Cleft CRN095
Craniosynostosis Exostoses Nevus Epibulbar Dermoid CRN096
Craniosynostosis Fontaine Type CRN097
Craniosynostosis Maroteaux Fonfria Type CRN098
Craniosynostosis Philadelphia Type CRN101
Craniosynostosis Syndrome, Autosomal Recessive CRN299
Craniosynostosis with Anomalies of the Cranial Base and Digits CRN292
Craniosynostosis with Ectopia Lentis CRN297
Craniosynostosis with Fibular Aplasia CRN264
Craniosynostosis with Ocular Abnormalities and Hallucal Defects CRN301
Craniosynostosis, Adelaide Type CRN234 CRSA
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism CRN271
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome CRN258
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig CRN103
Craniosynostosis-Mental Retardation-Clefting Syndrome CRN293
Craniotelencephalic Dysplasia CRN104
Crasil Syndrome CRS019
Crater-Like Holes of Optic Disc CRT010
Crawfurd Syndrome CRW001
C-Reactive Protein, Serum Level of, Quantitative Trait Locus 1 CRC043 CRPQTL1
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age CRS015
Creatine Deficiency Syndromes CRT055 CDS
Creatine Kinase, Brain Type, Ectopic Expression of CRT047 CKBE
Creatine Phosphokinase, Elevated Serum CRT045 HYPCK
Creatinine Clearance Quantitative Trait Locus CRT084 CRCL
Cree Mental Retardation Syndrome CRM012
Creeping Myiasis CRP016
Crescentic Glomerulonephritis CRS001
Crest Syndrome CRS005
Cretinism Athyreotic CRT035
Creutzfeldt-Jakob Disease CRT072 CJD
Cribriform Carcinoma CRB006
Cribriform Variant Testicular Seminoma CRB003
Cri-Du-Chat Syndrome CRD002
Crigler-Najjar Syndrome, Type I CRG003 CN1
Crigler-Najjar Syndrome, Type Ii CRG004 CN2
Crimean-Congo Hemorrhagic Fever CRM001 CCHF
Crisponi/cold-Induced Sweating Syndrome 1 CRS016 CISS1
Crisponi/cold-Induced Sweating Syndrome 2 CRS017 CISS2
Criss-Cross Heart CRS011
Critical Congenital Heart Disease CRT057 CCHD
Critical Illness Polyneuropathy CRT009
Crohn's Colitis CRH005
Crohn's Disease CRH001
Crohn's Disease of the Esophagus CRH002
Crome Syndrome CRM007
Crossed Polydactyly Type 1 CRS007
Croup CRP002 CROUP
Crouzon Syndrome CRZ001 CS
Crouzon Syndrome with Acanthosis Nigricans CRZ002 CAN
Crumpled Helices and Small Mouth CRM008
Crustacean Allergy CRS013
Cryofibrinogenemia CRY006
Cryofibrinogenemia, Familial Primary CRY033
Cryoglobulinemia CRY004
Cryoglobulinemia, Familial Mixed CRY007
Cryohydrocytosis CRY019 CHC
Cryopyrin-Associated Periodic Syndrome CRY008 CAPS
Cryptococcal Meningitis CRY014
Cryptococcosis CRY005
Cryptogenic Cirrhosis CRY036
Cryptogenic Late-Onset Epileptic Spasms CRY020
Cryptogenic Multifocal Ulcerous Stenosing Enteritis CRY031 CMUSE
Cryptogenic Organizing Pneumonia CRY001 COP
Cryptomicrotia-Brachydactyly Syndrome CRY029
Cryptophthalmia CRY037
Cryptophthalmos CRY010
Cryptophthalmos, Unilateral or Bilateral, Isolated CRY030 CRYPTOP
Cryptorchidism, Unilateral or Bilateral CRY035 CRYPTO
Cryptosporidiosis CRY003
Cryptotia, Familial CRY034
Crystal Arthropathies CRY024
Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia CSF005
Csf1r-Related Brain Malformation and Osteopetrosis CSF006
Cubitus Valgus with Mental Retardation and Unusual Facies CBT001
Culler-Jones Syndrome CLL036 CJS
Cumulative Trauma Disorders CML001
Curly Hair-Acral Keratoderma-Caries Syndrome CRL002 CHACS
Currarino Syndrome CRR002 CURRAS
Curry-Jones Syndrome CRR017 CRJS
Curved Nail of Fourth Toe CRV075
Cutaneous Adenocystic Carcinoma CTN009
Cutaneous Anthrax CTN013
Cutaneous Candidiasis CTN033
Cutaneous Collagenous Vasculopathy CTN025 CCV
Cutaneous Diphtheria CTN005
Cutaneous Fibrous Histiocytoma CTN004
Cutaneous Ganglioneuroma CTN010
Cutaneous Larva Migrans CTN016 CLM
Cutaneous Leiomyosarcoma CTN012
Cutaneous Leishmaniasis CTN007
Cutaneous Liposarcoma CTN008
Cutaneous Lupus Erythematosus CTN003
Cutaneous Mastocytoma CTN027
Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia CTN032
Cutaneous Mucoepidermoid Carcinoma CTN002
Cutaneous Myiasis CTN034
Cutaneous Photosensitivity and Colitis, Lethal CTN018
Cutaneous Polyarteritis Nodosa CTN019
Cutaneous Porphyria CTN011
Cutaneous Pseudolymphoma CTN031
Cutaneous Sclerosis CTN020
Cutaneous Solitary Mastocytoma CTN001
Cutaneous T Cell Lymphoma CTN015 CTCL
Cutaneous Telangiectasia and Cancer Syndrome, Familial CTN028 FCTCS
Cutaneous-Skeletal Hypophosphatemia Syndrome CTN029
Cutis Gyratum Acanthosis Nigricans Craniosynostosis CTS006
Cutis Laxa CTS001
Cutis Laxa Osteoporosis CTS007
Cutis Laxa, Autosomal Dominant 1 CTS045 ADCL1
Cutis Laxa, Autosomal Dominant 2 CTS031 ADCL2
Cutis Laxa, Autosomal Dominant 3 CTS041 ADCL3
Cutis Laxa, Autosomal Recessive, Type Ia CTS030 ARCL1A
Cutis Laxa, Autosomal Recessive, Type Ib CTS037 ARCL1B
Cutis Laxa, Autosomal Recessive, Type Ic CTS033 ARCL1C
Cutis Laxa, Autosomal Recessive, Type Iia CTS038 ARCL2A
Cutis Laxa, Autosomal Recessive, Type Iib CTS023 ARCL2B
Cutis Laxa, Autosomal Recessive, Type Iic CTS044 ARCL2C
Cutis Laxa, Autosomal Recessive, Type Iid CTS043 ARCL2D
Cutis Laxa, Autosomal Recessive, Type Iiia CTS029 ARCL3A
Cutis Laxa, Autosomal Recessive, Type Iiib CTS032 ARCL3B
Cutis Laxa, Neonatal, with Marfanoid Phenotype CTS042
Cutis Marmorata Telangiectatica Congenita CTS011 CMTC
Cutis Verticis Gyrata CTS012
Cutis Verticis Gyrata and Mental Retardation CTS046 CVG/MR
Cutis Verticis Gyrata Mental Deficiency CTS013
Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation CTS047
Cutler Bass Romshe Syndrome CTL002
Cyanide Poisoning CYN003
Cyanide, Inability to Smell CYN005
Cyanide-Induced Parkinsonism-Dystonia CYN006
Cyanosis and Hepatic Disease CYN004
Cyanosis, Transient Neonatal CYN002 TNCY
Cyclic Neutropenia CYC010 CH
Cyclic Vomiting Syndrome CYC008 CVS
Cyclophosphamide Allergy CYC011
Cycloplegia CYC001
Cyclosporiasis CYC002
Cyclothymic Disorder CYC005
Cyclotropia CYC003
Cylindrical Spirals Myopathy CYL003
Cylindromatosis, Familial CYL004 FCYL
Cyprus Facial Neuromusculoskeletal Syndrome CYP001
Cystadenocarcinoma CYS014
Cystadenofibroma CYS015
Cystadenoma CYS009
Cystadenoma of Childhood CYS049
Cystathioninuria CYS019 CSTNU
Cysteine Peptiduria CYS043
Cystic Adenomatoid Malformation of Lung CYS021 CCAM
Cystic Adventitial Disease CYS035
Cystic Angiomatosis of Bone, Diffuse CYS041 GSD
Cystic Basal Cell Carcinoma CYS004
Cystic Disease of Lung CYS044
Cystic Echinococcosis CYS008
Cystic Fibrosis CYS001 CF
Cystic Fibrosis and Congenital Absence of the Vas Deferens CYS042
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation CYS040
Cystic Fibrosis, Modifier of, 1 CYS047 CFM1
Cystic Kidney Disease CYS039
Cystic Lymphangioma CYS002
Cystic Medial Necrosis of Aorta CYS023
Cystic Teratoma CYS017
Cysticercosis CYS005
Cystinosis CYS010
Cystinosis, Adult Nonnephropathic CYS045 CTNSANN
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type CYS046 CTNSJAN
Cystinosis, Nephropathic CYS036 CTNS
Cystinuria CYS013 CSNU
Cystitis CYS018
Cystitis Cystica CYS003
Cystoid Macular Retinal Degeneration CYS012
Cystoisosporiasis CYS011
Cysts and Fistulae of the Face and Oral Cavity CYS048
Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 CYT022 COX7A2P2
Cytochrome P450 2d6 Variant CYT018
Cytochrome P450 Oxidoreductase Deficiency CYT014 PORD
Cytogenetically Normal Acute Myeloid Leukemia CYT019
Cytokine Deficiency CYT002
Cytokine Receptor Deficiency