Disease Name Symbol Acronym
C Syndrome CSY001 CSYN
C-P Angle Neurinoma CPN001
C1 Inhibitor Deficiency C1N001
C1q Deficiency C1Q001 C1QD
C1q Nephropathy C1Q005
C1r/c1s Deficiency, Combined C1R002
C1s Deficiency C1S001 C1SD
C2 Deficiency C2D001 C2D
C2orf71-Related Retinitis Pigmentosa C2R001 RP54
C2orf86-Related Bardet-Biedl Syndrome C2R002
C3 Deficiency C3D001 C3D
C3 Glomerulopathy C3G002 DDD
C3-Related Atypical Hemolytic-Uremic Syndrome C3R001
C4a Deficiency C4D002 C4AD
C4b Deficiency C4B001 C4BD
C5 Deficiency C5D001 C5D
C5orf42-Related Joubert Syndrome C5R001
C6 Deficiency C6D001 C6D
C7 Deficiency C7D001 C7D
C8 Deficiency, Type I C8D002 C8D1
C8 Deficiency, Type Ii C8D003 C8D2
C8orf37-Related Retinitis Pigmentosa C8R001
C9 Deficiency C9D001 C9D
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia C9R002
Ca4-Related Retinitis Pigmentosa C4R001 RP17
Cacna1f-Related X-Linked Congenital Stationary Night Blindness CCN004
Cacna1s-Related Malignant Hyperthermia Susceptibility CCN005
Cacnb4-Related Juvenile Myoclonic Epilepsy CCN006
Cadasil CDS001 CASIL
Cadasil 2 CDS005 CADASIL2
Cafe-Au-Lait Spots, Multiple CFL005 NF6
Caffey Disease CFF003 CAFFD
Cakut with or Without Vacterl CKT001 CAKUT
Calcaneonavicular Coalition CLC002
Calcific Tendinitis CLC004
Calcification of Joints and Arteries CLC017 CALJA
Calcifying Epithelial Odontogenic Tumor CLC010 CEOT
Calcinosis CLC006
Calciphylaxis CLC001
Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia CLM002 CPVT4
Calpainopathy CLP001 LGMD2
Calr-Related Essential Thrombocythemia CLR118
Calr3-Related Familial Hypertrophic Cardiomyopathy CLR119 CMH19
Calvarial Hyperostosis CLV004
Campomelic Dysplasia CMP005 CMD1
Camptocormism CMP017
Camptodactyly 1 CMP039
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome CMP012 CACP
Campylobacteriosis CMP002
Camurati Engelmann Disease, Type 2 CMR004 CED2
Camurati-Engelmann Disease CMR001 CAEND
Canavan Disease CNV004 CAND
Cancer-Associated Retinopathy CNC014
Cancerophobia CNC001
Candida Glabrata CND006
Candidiasis CND004
Candidiasis, Familial, 2, Autosomal Recessive CND026 CANDF2
Candidiasis, Familial, 3 CND027
Candidiasis, Familial, 4, Autosomal Recessive CND028 CANDF4
Candidiasis, Familial, 5, Autosomal Recessive CND029 IMD51
Candidiasis, Familial, 6, Autosomal Dominant CND024 CANDF6
Candidiasis, Familial, 8 CND025 CANDF8
Candidiasis, Familial, 9 CND031 CANDF9
Cannabis Abuse CNN002
Cannabis Dependence CNN001
Cap Myopathy CPM001
Cap Polyposis CPP003
Capgras Syndrome CPG001
Capillariasis CPL001
Capillary Disease CPL005
Capillary Hemangioma CPL006
Capillary Leak Syndrome CPL003
Capillary Lymphangioma CPL002
Capillary Malformation-Arteriovenous Malformation CPL007 CMAVM
Capillary Malformations, Congenital, 1, Somatic, Mosaic CPL011 CMC
Caplan's Syndrome CPL004
Capos Syndrome CPS001 CAPOS
Carasil Syndrome CRS012 CARASIL
Carbamoylphosphate Synthetase I Deficiency CRB152 CPS1D
Carbohydrate Metabolic Disorder CRB025
Carbonic Anhydrase Va Deficiency CRB155
Carboxypeptidase N Deficiency CRB041 CPND
Carbuncle CRB016
Carcinoid Syndrome CRC006
Carcinoid Tumors, Intestinal CRC014 ICT
Cardiac Arrest CRD119
Cardiac Arrhythmia, Ankyrin-B-Related CRD054 LQT4
Cardiac Conduction Defect CRD132 SCD
Cardiac Conduction Disease with or Without Dilated Cardiomyopathy CRD178 CCDD
Cardiac Rupture CRD016
Cardiac Sarcoidosis CRD003
Cardiac Tamponade CRD001
Cardiac Valvular Dysplasia, X-Linked CRD017 CVDX
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
Cardiofaciocutaneous Syndrome CRD013 CFC1
Cardiofaciocutaneous Syndrome 2 CRD163 CFC2
Cardiofaciocutaneous Syndrome 3 CRD164 CFC3
Cardiofaciocutaneous Syndrome 4 CRD167 CFC4
Cardiogenic Shock CRD137
Cardiomyopathy CRD011
Cardiomyopathy with or Without Skeletal Myopathy CRD048
Cardiomyopathy, Dilated, 1a CRD093 CMD1A
Cardiomyopathy, Dilated, 1aa, with or Without Lvnc CRD191 CMD1AA
Cardiomyopathy, Dilated, 1bb CRD108 CMD1BB
Cardiomyopathy, Dilated, 1c, with or Without Lvnc CRD201 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
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
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
Cardiomyopathy, Dilated, 1r CRD107 CMD1R
Cardiomyopathy, Dilated, 1t CRD103
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, 3b CRD187 CMD3B
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma CRD180 DCWHK
Cardiomyopathy, Familial Hypertrophic CRD194 CMH1
Cardiomyopathy, Familial Hypertrophic, 9 CRD079 CMH9
Cardiomyopathy, Familial Restrictive, 1 CRD176 RCM1
Cardiomyopathy, Familial Restrictive, 2 CRD057
Cardiomyopathy, Familial Restrictive, 3 CRD098 RCM3
Cardiomyopathy, Hypertrophic 6 CRD199 CMH6
Cardiomyopathy, Hypertrophic, 10 CRD204 CMH10
Cardiomyopathy, Hypertrophic, 11 CRD206 CMH11
Cardiomyopathy, Hypertrophic, 12 CRD202 CMH12
Cardiomyopathy, Hypertrophic, 13 CRD195 CMH13
Cardiomyopathy, Hypertrophic, 14 CRD205 CMH14
Cardiomyopathy, Hypertrophic, 15 CRD200 CMH15
Cardiomyopathy, Hypertrophic, 16 CRD197 CMH16
Cardiomyopathy, Hypertrophic, 17 CRD211 CMH17
Cardiomyopathy, Hypertrophic, 18 CRD198 CMH18
Cardiomyopathy, Hypertrophic, 19 CRD209 CMH19
Cardiomyopathy, Hypertrophic, 2 CRD190 CMH2
Cardiomyopathy, Hypertrophic, 20 CRD189 CMH20
Cardiomyopathy, Hypertrophic, 25 CRD208 CMH25
Cardiomyopathy, Hypertrophic, 3 CRD207 CMH3
Cardiomyopathy, Hypertrophic, 4 CRD203 CMH4
Cardiomyopathy, Hypertrophic, 7 CRD210 CMH7
Cardiomyopathy, Hypertrophic, 8 CRD196 CMH8
Cardiomyopathy, Infantile Hypertrophic CRD219 CMHI
Cardiovascular Cancer CRD118
Cardiovascular Disease Risk Factor ) CRD144
Cardiovascular Organ Benign Neoplasm CRD007
Cardiovascular Syphilis CRD006
Carney Complex Variant CRN038 CACOV
Carney Complex, Type 1 CRN243 CNC1
Carney Triad CRN055
Carnitine Acetyltransferase Deficiency CRN039
Carnitine Deficiency, Systemic Primary CRN239 CDSP
Carnitine Palmitoyltransferase Ii Deficiency CRN183 CPT2
Carnitine-Acylcarnitine Translocase Deficiency CRN041 CACTD
Carnosinemia CRN042
Caroli Disease CRL004
Caroli Disease, Isolated CRL006
Carotenemia CRT011
Carotid Artery Disease CRT016
Carotid Artery Dissection CRT008
Carotid Artery Occlusion CRT015
Carotid Artery Thrombosis CRT004
Carotid Intimal Medial Thickness 1 CRT043
Carotid Stenosis CRT013
Carpal Tunnel Syndrome, Familial CRP017 CTS1
Carpenter Syndrome CRP007 CRPT1
Carpenter Syndrome 2 CRP022 CRPT2
Carrion's Disease CRR001
Cartilage Disease CRT017
Cartilage-Hair Hypoplasia CRT002 CHH
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders CRT024
Cascade Stomach CSC001
Cask-Related Disorders CSK001
Casp10-Related Autoimmune Lymphoproliferative Syndrome CSP002
Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia CSQ001
Casr-Associated Familial Isolated Hypoparathyroidism CSR001
Casr-Related Disorders CSR002
Casr-Related Familial Isolated Hypoparathyroidism CSR003
Castleman Disease CST005
Cat Eye Syndrome CTY001 CES
Cat-Scratch Disease CTS002
Catamenial Pneumothorax CTM001
Cataract CTR002
Cataract 1, Multiple Types CTR098 CTRCT1
Cataract 10, Multiple Types CTR124 CTRCT10
Cataract 11, Multiple Types CTR113 CTRCT11
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, Autosomal Recessive CTR104 CTRCT18
Cataract 19 CTR127 CTRCT19
Cataract 2, Multiple Types CTR102 CTRCT2
Cataract 20, Multiple Types CTR106 CTRCT20
Cataract 21, Multiple Types CTR141 CTRCT21
Cataract 22, Autosomal Recessive CTR133 CTRCT22
Cataract 23 CTR134 CTRCT23
Cataract 24, Anterior Polar CTR123 CTAA2
Cataract 25 CTR121 CCSSO
Cataract 26, Multiple Types CTR110
Cataract 27, Nuclear Progressive CTR100
Cataract 28 CTR157 ARCC1
Cataract 29, Coralliform CTR099
Cataract 3, Multiple Types CTR132 CTRCT3
Cataract 30, Pulverulent CTR112 CTRCT30
Cataract 31, Multiple Types CTR129 CTRCT31
Cataract 32, Multiple Types CTR119 CTAA1
Cataract 33 CTR128 CTRCT33
Cataract 34, Multiple Types CTR097 CTRCT34
Cataract 36 CTR111 CTRCT36
Cataract 37 CTR158 CCA5
Cataract 38, Autosomal Recessive CTR109 CTRCT38
Cataract 39, Multiple Types, Autosomal Dominant CTR101 CTRCT39
Cataract 4, Multiple Types CTR103 CTRCT4
Cataract 40, X-Linked CTR135 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 CTR156 CTRCT46
Cataract 47 CTR162
Cataract 5, Multiple Types CTR122 CTRCT5
Cataract 6, Multiple Types CTR096 CTRCT6
Cataract 7 CTR125 CCA1
Cataract 8, Multiple Types CTR095 CCV
Cataract 9, Multiple Types CTR130 CTRCT9
Cataract Congenital Dominant Non Nuclear CTR009 CCP
Cataract Microcornea Syndrome CTR014
Cataract-Glaucoma CTR027
Cataract, Autosomal Dominant Congenital 4 CTR146
Cataract, Congenital, with Microcornea or Slight Microphthalmia CTR019
Cataract, Juvenile, with Microcornea and Glucosuria CTR076 CTRCT47
Cataract, Polymorphic and Lamellar CTR054
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia CTR140 CAGSSS
Catastrophic Antiphospholipid Syndrome CTS005 CAPS
Catecholaminergic Polymorphic Ventricular Tachycardia CTC001 CPVT
Catel-Manzke Syndrome CTL005 CATMANS
Catshl Syndrome CTS022 CATSHLS
Catsper-Related Male Infertility CTS004
Cauda Equina Neoplasm CDQ003
Cauda Equina Syndrome CDQ001
Caudal Duplication Anomaly CDL005 CADUA
Caudal Regression Syndrome CDL003 SDAM
Causalgia CSL001
Cav3-Related Distal Myopathy CV3001 MPDT
Cav3-Related Sudden Infant Death Syndrome CV3005
Caveolinopathies CVL001
Cavernous Hemangioma CVR006
Cavernous Malformation CVR010
Cavernous Sinus Meningioma CVR001
Cavernous Sinus Thrombosis CVR002
Cavitary Optic Disc Anomalies CVT001 CODA
Cayler Cardiofacial Syndrome CYL001
Cbij CBJ001 CBIJ
Cblf CBL006 CBLF
Cbx2-Related 46,xy Dsd and 46,xy Cgd CBX001 SRXY5
Cc2d2a-Related Joubert Syndrome CC2001
Cc2d2a-Related Meckel Syndrome CC2002 MKS6
Ccdc115-Cdg CCD001 CDG2O
Cd19-Related Common Variable Immune Deficiency CD1001 CVID3
Cd3delta Deficiency CD3002
Cd3epsilon Deficiency CD3004
Cd3gamma Deficiency CD3003
Cd3zeta Deficiency CD3001
Cd40 Ligand Deficiency CD4003 XHIM
Cd45 Deficiency CD4001
Cd46-Related Atypical Hemolytic-Uremic Syndrome CD4005
Cd8 Deficiency, Familial CD8002 CD8 DEFICIENCY
Cd81-Related Common Variable Immune Deficiency CD8003 CVID6
Cdags Syndrome CDG001
Cdc73-Related Disorders CDC001
Cdc73-Related Familial Isolated Hyperparathyroidism CDC002
Cdc73-Related Parathyroid Carcinoma CDC003
Cdk4-Related Cutaneous Malignant Melanoma CDK002 CMM3
Cdkl5-Related Angelman-Like Syndrome CDK003
Cdkn2a-Related Cutaneous Malignant Melanoma CDK004 CMM2
Cdon-Related Holoprosencephaly CDN002
Cecal Benign Neoplasm CCL003
Cecal Disease CCL002
Cecum Adenocarcinoma CCM001
Celiac Disease CLC005 SPRUE
Celiac Disease 10 CLC038
Celiac Disease 11 CLC043
Celiac Disease 12 CLC044
Celiac Disease 13 CLC039 CELIAC13
Celiac Disease 2 CLC045
Celiac Disease 3 CLC048 CELIAC3
Celiac Disease 4 CLC037 CELIAC4
Celiac Disease 5 CLC046
Celiac Disease 6 CLC040
Celiac Disease 7 CLC041
Celiac Disease 8 CLC047
Celiac Disease 9 CLC042
Cell Type Benign Neoplasm CLL012
Cell Type Cancer CLL013
Cellular Congenital Mesoblastic Nephroma CLL007
Cellular Ependymoma CLL010
Cellular Neurofibroma CLL006
Cellular Schwannoma CLL001
Cellulitis CLL003
Cenani-Lenz Syndactyly Syndrome CNN011 CLSS
Central Centrifugal Cicatricial Alopecia CNT057
Central Congenital Hypothyroidism CNT101
Central Core Disease CNT098 CCD
Central Corneal Ulcer CNT026
Central Epithelioid Sarcoma CNT031
Central Hypoventilation Syndrome, Congenital CNT097 CCHS
Central Nervous System Disease CNT035 CNS
Central Nervous System Germ Cell Tumor CNT036
Central Nervous System Germinoma CNT037
Central Nervous System Hemangioma CNT023
Central Nervous System Leukemia CNT018
Central Nervous System Lymphoma CNT005
Central Nervous System Melanocytic Neoplasm CNT041
Central Nervous System Mesenchymal Non-Meningothelial Tumor CNT042
Central Nervous System Organ Benign Neoplasm CNT043
Central Nervous System Primitive Neuroectodermal Neoplasm CNT044 CPNET
Central Nervous System Teratoma CNT093
Central Nervous System Tuberculosis CNT007
Central Nervous System Vasculitis CNT046
Central Neurocytoma CNT019
Central Pain Syndrome CNT068
Central Pontine Myelinolysis CNT025 CPM
Central Precocious Puberty CNT075 CPP
Central Retinal Artery Occlusion CNT028
Central Retinal Vein Occlusion CNT016 CRVO
Central Serous Chorioretinopathy CNT060 CSCR
Central Sleep Apnea CNT015
Centripetalis Recessive Dystrophic Epidermolysis Bullosa CNT086
Centronuclear Myopathy 5 CNT095 CNM5
Centrotemporal Epilepsy CNT069
Cep290-Related Bardet-Biedl Syndrome CP2001 BBS14
Cep290-Related Joubert Syndrome CP2002
Cep290-Related Leber Congenital Amaurosis CP2003
Cep290-Related Meckel Syndrome CP2004
Cep41-Related Joubert Syndrome CP4001
Cercarial Dermatitis CRC001
Cerebellar Agenesis CRB053
Cerebellar Angioblastoma CRB015
Cerebellar Astrocytoma CRB026
Cerebellar Ataxia CRB042 ACERULOP
Cerebellar Ataxia and Hypogonadotropic Hypogonadism CRB055 GDHS
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 CRB092 CMARQ3
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss CRB058 CAPOS
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant CRB142 ADCADN
Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome CRB158 CAMRQ
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 CRB136 CAMRQ2
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 CRB141 CMARQ4
Cerebellar Ataxia, Nonprogressive, with Mental Retardation CRB139 CANPMR
Cerebellar Atrophy, Visual Impairment and Psychomotor Retardation CRB167 CAVIPMR
Cerebellar Degeneration CRB059
Cerebellar Disease CRB027
Cerebellar Hypoplasia CRB045
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 CRB106 CAMRQ1
Cerebellar Hypoplasia with Endosteal Sclerosis CRB062
Cerebellar Liponeurocytoma CRB022
Cerebellar Medulloblastoma CRB028
Cerebellofaciodental Syndrome CRB147 CFDS
Cerebellopontine Angle Meningioma CRB023
Cerebellopontine Angle Tumor CRB029
Cerebellum Cancer CRB030
Cerebral Amyloid Angiopathy CRB019 AMYL6
Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants CRB096 CAA-APP
Cerebral Aneurysms CRB086
Cerebral Angioma CRB014
Cerebral Arterial Disease CRB031
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy CRB047 CADASIL1
Cerebral Arteriosclerosis CRB087
Cerebral Arteritis CRB005
Cerebral Artery Occlusion CRB004
Cerebral Atherosclerosis CRB008
Cerebral Atrophy CRB088
Cerebral Cavernous Malformation, Familial CRB051
Cerebral Cavernous Malformations 3 CRB094 CCM3
Cerebral Cavernous Malformations-1 CRB103 CCM1
Cerebral Cavernous Malformations-2 CRB102 CCM2
Cerebral Convexity Meningioma CRB032
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 Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome CRB069 CEDNIK
Cerebral Falx Meningioma CRB017
Cerebral Folate Deficiency CRB070
Cerebral Hemisphere Lipoma CRB034
Cerebral Hemorrhage CRB085
Cerebral Hypoxia CRB090
Cerebral Lipidosis CRB018
Cerebral Lymphoma CRB001
Cerebral Meningioma CRB036
Cerebral Neuroblastoma CRB024
Cerebral Palsy CRB037
Cerebral Palsy, Ataxic, Autosomal Recessive CRB108
Cerebral Palsy, Spastic Quadriplegic, 1 CRB125 CPSQ1
Cerebral Palsy, Spastic Quadriplegic, 2 CRB140 CPSQ2
Cerebral Primitive Neuroectodermal Tumor CRB002
Cerebral Sarcoidosis CRB007
Cerebral Sarcoma CRB074
Cerebral Sinovenous Thrombosis CRB132 CSVT
Cerebral Ventricle Cancer CRB038
Cerebral Visual Impairment CRB159
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked CRB144
Cerebritis CRB009
Cerebro-Oculo-Facio-Skeletal Syndrome CRB091
Cerebrocostomandibular Syndrome CRB154 CCMS
Cerebrocostomandibular-Like Syndrome CRB078
Cerebrooculofacioskeletal Syndrome 1 CRB101 COFS1
Cerebrooculofacioskeletal Syndrome 2 CRB098 COFS2
Cerebrooculofacioskeletal Syndrome 3 CRB099 COFS3
Cerebrooculofacioskeletal Syndrome 4 CRB100 COFS4
Cerebroretinal Microangiopathy with Calcifications and Cysts CRB149 CRMCC1
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 CRB168 CRMCC2
Cerebrospinal Fluid Leak CRB079
Cerebrotendinous Xanthomatosis CRB011 CTX
Cerebrovascular Disease CRB039 CVA
Cerebrum Cancer CRB040
Cerkl-Related Retinitis Pigmentosa CRK002 RP26
Ceroid Lipofuscinosis, Neuronal, 1 CRD177 CLN1
Ceroid Lipofuscinosis, Neuronal, 10 CRD182 CLN10
Ceroid Lipofuscinosis, Neuronal, 11 CRD166 CLN11
Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type CRD161 CLN13
Ceroid Lipofuscinosis, Neuronal, 2 CRD183 CLN2
Ceroid Lipofuscinosis, Neuronal, 3 CRD186 CLN3
Ceroid Lipofuscinosis, Neuronal, 4, Parry Type CRD169 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 Lipofuscinosis, Neuronal, Kufs Type, Adult Onset CRD165 CLN4A
Cerulean Cataract CRL001 CCA1
Cervical Adenitis CRV030
Cervical Adenocarcinoma CRV031
Cervical Adenoid Cystic Carcinoma CRV013
Cervical Adenoma Malignum CRV014
Cervical Adenosarcoma CRV028
Cervical Adenosquamous Carcinoma CRV033
Cervical Cancer, Somatic CRV047 CERCA
Cervical Carcinosarcoma CRV036
Cervical Clear Cell Adenocarcinoma CRV026
Cervical Dystonia CRV043
Cervical Incompetence CRV025
Cervical Intraepithelial Neoplasia CRV045 CIN
Cervical Keratinizing Squamous Cell Carcinoma CRV029
Cervical Mucinous Adenocarcinoma CRV037
Cervical Neuroblastoma CRV067
Cervical Polyp CRV068
Cervical Spina Bifida Aperta CRV063
Cervical Spina Bifida Cystica CRV062
Cervical Squamous Cell Carcinoma CRV038
Cervical Verrucous Carcinoma CRV012
Cervicitis CRV039
Cervicothoracic Spina Bifida Aperta CRV064
Cervicothoracic Spina Bifida Cystica CRV061
Cervix Carcinoma CRV040
Cervix Disease CRV069
Cervix Endometriosis CRV006
Cervix Small Cell Carcinoma CRV022
Cervix Uteri Carcinoma in Situ CRV002
Cetp-Related Hyperalphalipoproteinemia CTP001
Cfb-Related Atypical Hemolytic-Uremic Syndrome CFB001
Cfc1-Related Conotruncal Heart Malformations CFC001
Cfc1-Related Visceral Heterotaxy CFC002 HTX2
Cfh-Related Atypical Hemolytic-Uremic Syndrome CFH004
Cfh-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type Ii CFH005
Cfhr3 and Cfhr1-Related Atypical Hemolytic-Uremic Syndrome CFH002
Cfhr5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type Ii CFH003
Cfi-Related Atypical Hemolytic-Uremic Syndrome CFR001
Cfl2-Related Nemaline Myopathy CFL004 NEM7
Cftr-Related Disorders CFT001
Cftr-Related Hereditary Pancreatitis CFT002
Chagas Disease CHG001
Chanarin-Dorfman Syndrome CHN055 CDS
Chancroid CHN002
Char Syndrome CHR101 CHAR
Charcot-Marie-Tooth Disease CHR071 CMT
Charcot-Marie-Tooth Disease 2a2b CHR604 CMT2A2B
Charcot-Marie-Tooth Disease 2z CHR597 CMT2Z
Charcot-Marie-Tooth Disease Axonal Type 2cc CHR599
Charcot-Marie-Tooth Disease Axonal Type 2x CHR598
Charcot-Marie-Tooth Disease Intermediate Type CHR025
Charcot-Marie-Tooth Disease Type 2a CHR135
Charcot-Marie-Tooth Disease Type 2c CHR139
Charcot-Marie-Tooth Disease Type 2f CHR142
Charcot-Marie-Tooth Disease Type 2g CHR143
Charcot-Marie-Tooth Disease Type 2k CHR147
Charcot-Marie-Tooth Disease Type 2l CHR549
Charcot-Marie-Tooth Disease Type 2n CHR550
Charcot-Marie-Tooth Disease Type 2o CHR551
Charcot-Marie-Tooth Disease Type 2q CHR553
Charcot-Marie-Tooth Disease Type 2t CHR577 CMT2T
Charcot-Marie-Tooth Disease Type 4k CHR601 CMT4K
Charcot-Marie-Tooth Disease Type 5 CHR571
Charcot-Marie-Tooth Disease, Axonal, Type 20 CHR493 CMT2O
Charcot-Marie-Tooth Disease, Axonal, Type 2f CHR352 CMT2F
Charcot-Marie-Tooth Disease, Axonal, Type 2g CHR372
Charcot-Marie-Tooth Disease, Axonal, Type 2h CHR545
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 2q CHR489 CMT2Q
Charcot-Marie-Tooth Disease, Axonal, Type 2s CHR520 CMT2S
Charcot-Marie-Tooth Disease, Axonal, Type 2t CHR542
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, with Vocal Cord Paresis CHR349 CMT2RV
Charcot-Marie-Tooth Disease, Dominant Intermediate a CHR491
Charcot-Marie-Tooth Disease, Dominant Intermediate B CHR422 CMT2M
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, Recessive Intermediate C CHR480 CMTRIC
Charcot-Marie-Tooth Disease, Recessive Intermediate D CHR514 CMTRID
Charcot-Marie-Tooth Disease, Recessive Intermediate, a CHR424 CMTRIA
Charcot-Marie-Tooth Disease, Recessive Intermediate, B CHR419 CMTRIB
Charcot-Marie-Tooth Disease, Type 1a CHR536 CMT1A
Charcot-Marie-Tooth Disease, Type 1b CHR527 CMT1B
Charcot-Marie-Tooth Disease, Type 1c CHR535 CMT1C
Charcot-Marie-Tooth Disease, Type 1d CHR534 CMT1D
Charcot-Marie-Tooth Disease, Type 1e CHR537 CMT1E
Charcot-Marie-Tooth Disease, Type 1f CHR533 CMT1F
Charcot-Marie-Tooth Disease, Type 2a1 CHR402 CMT2A1
Charcot-Marie-Tooth Disease, Type 2a2 CHR357 CMT2A2A
Charcot-Marie-Tooth Disease, Type 2b CHR530 CMT2B
Charcot-Marie-Tooth Disease, Type 2b1 CHR526 CMT2B1
Charcot-Marie-Tooth Disease, Type 2b2 CHR538 CMT2B2
Charcot-Marie-Tooth Disease, Type 2d CHR531 CMT2D
Charcot-Marie-Tooth Disease, Type 2e CHR532 CMT2E
Charcot-Marie-Tooth Disease, Type 2i CHR529 CMT2I
Charcot-Marie-Tooth Disease, Type 2j CHR528 CMT2J
Charcot-Marie-Tooth Disease, Type 2r CHR485 CMT2R
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 4f CHR407 CMT4F
Charcot-Marie-Tooth Disease, Type 4h CHR421 CMT4H
Charcot-Marie-Tooth Disease, Type 4j CHR420 CMT4J
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 CHR505 CMTX6
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 CHR408 CMTX5
Charcot-Marie-Tooth Hereditary Neuropathy CHR453 CMT
Charcot-Marie-Tooth Neuropathy CHR102 CMT
Charcot-Marie-Tooth Neuropathy Dominant Intermediate E CHR574
Charcot-Marie-Tooth Neuropathy Dominant Intermediate F CHR558
Charcot-Marie-Tooth Neuropathy Recessive Intermediate D CHR559
Charcot-Marie-Tooth Neuropathy Type 1 CHR113 CMT1
Charcot-Marie-Tooth Neuropathy Type 2a CHR115
Charcot-Marie-Tooth Neuropathy Type 2e/1f CHR116
Charcot-Marie-Tooth Neuropathy Type 2h/2k CHR303
Charcot-Marie-Tooth Neuropathy Type 2i/2j CHR304
Charcot-Marie-Tooth Neuropathy Type 2l CHR305
Charcot-Marie-Tooth Neuropathy Type 2n CHR306
Charcot-Marie-Tooth Neuropathy Type 2o CHR307
Charcot-Marie-Tooth Neuropathy Type 4b3 CHR479
Charcot-Marie-Tooth Neuropathy Type 4f CHR313
Charcot-Marie-Tooth Neuropathy Type 4j CHR315
Charcot-Marie-Tooth Neuropathy X CHR316 CMTX
Charcot-Marie-Tooth Neuropathy X Type 1 CHR120 CMTX1
Charcot-Marie-Tooth Neuropathy X Type 4 CHR319 CMTX4
Charcot-Marie-Tooth Neuropathy X Type 5 CHR121 CMTX5
Charcot-Marie-Tooth Neuropathy X Type 6 CHR575 CMTX6
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 CHR348 CMTX1
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 CHR373 CMTX2
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 CHR374 CMTX3
Charcot-Marie-Toothe Disease, Axonal, Type 2p CHR488 CMT2P
Charge Syndrome CHR103 CHARGES
Charles Bonnet Syndrome CHR158 CBS
Chat-Related Congenital Myasthenic Syndrome CHT004
Chchd10-Related Disorders CHC002
Chd2 Myoclonic Encephalopathy CHD007 EEOC
Chd2-Related Neurodevelopmental Disorders CHD006
Chd7-Related Isolated Gonadotropin-Releasing Hormone Deficiency CHD005
Chediak-Higashi Syndrome CHD001 CHS
Cheilitis CHL056
Chek2-Related Susceptibility to Breast and Colorectal Cancer CHK005
Chek2-Related Susceptibility to Breast Cancer CHK003
Chemical Colitis CHM005
Cherry Allergy CHR570
Cherubism CHR003 CRBM
Chest Wall Lipoma CHS001
Chest Wall Lymphoma CHS005
Chester Porphyria CHS007 PORC
Chiari Malformation CHR342
Chiari Malformation Type Ii CHR579
Chiasmal Syndrome CHS002
Chickenpox CHC001
Chief Cell Adenoma CHF001
Chikungunya CHK001 CK
Chilblain Lupus CHL092 CHBL1
Chilblain Lupus 2 CHL114 CHBL2
Child Syndrome CHL071 CHILD
Childhood Absence Epilepsy CHL002
Childhood Apraxia of Speech CHL109 CAS
Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter CHL106 VWM
Childhood Disintegrative Disease CHL012
Childhood Electroclinical Syndrome CHL058
Childhood Endodermal Sinus Tumor CHL049
Childhood Hepatocellular Carcinoma CHL128
Childhood Kidney Cell Carcinoma CHL010
Childhood Leukemia CHL061
Childhood Malignant Schwannoma CHL033
Childhood Medulloblastoma CHL018
Childhood Myocerebrohepatopathy Spectrum Disorders CHL086 MCHS
Childhood Oligodendroglioma CHL006
Childhood Pilocytic Astrocytoma CHL062
Childhood Restrictive Cardiomyopathy CHL087 RCM
Childhood Type Dermatomyositis CHL028 JDM
Childhood-Onset Nemaline Myopathy CHL107
Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome CHL130
Childhood-Onset Reducing Body Myopathy, X-Linked CHL088
Childhood-Onset Schizophrenia CHL078
Children's Interstitial Lung Disease CHL079 CHILD
Chime Syndrome CHM006 CHIME
Chitayat Syndrome CHT006 CHYTS
Chitotriosidase Deficiency CHT005
Chkb-Related Muscle Diseases CHK004
Chlamydia CHL123
Choanal Atresia and Lymphedema CHN040 CHATLY
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome CHN069
Choanal Atresia, Posterior CHN065 PCA
Cholangiocarcinoma, Susceptibility to CHL127 CC
Cholangiolocellular Carcinoma CHL040
Cholangitis CHL066
Cholangitis, Primary Sclerosing CHL119 PSC
Cholecystitis CHL067
Cholecystolithiasis CHL013
Choledochal Cyst CHL052
Choledocholithiasis CHL039
Cholelithiasis CHL004
Cholera CHL014
Cholestasis CHL068
Cholestasis-Lymphedema Syndrome CHL073 LCS
Cholestasis, Benign Recurrent Intrahepatic CHL120 BRIC1
Cholestasis, Benign Recurrent Intrahepatic, 2 CHL118 BRIC2
Cholestasis, Familial Intrahepatic, of Pregnancy 1 CHL125
Cholestasis, Familial Intrahepatic, of Pregnancy 3 CHL126 ICP3
Cholestasis, Intrahepatic, of Pregnancy, 1 CHL116 ICP1
Cholestasis, Intrahepatic, of Pregnancy, 3 CHL115 ICP3
Cholestasis, Progressive Familial Intrahepatic 1 CHL080 PFIC1
Cholestasis, Progressive Familial Intrahepatic 2 CHL081 PFIC2
Cholestasis, Progressive Familial Intrahepatic 3 CHL082 PFIC3
Cholestasis, Progressive Familial Intrahepatic 4 CHL083 PFIC4
Cholestasis, Progressive Familial Intrahepatic 5 CHL129 PFIC5
Cholesteatoma CHL069
Cholesteatoma of Middle Ear CHL122
Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia CHL090
Cholesterol Embolism CHL070
Cholesterol Ester Storage Disease CHL050
Choline Deficiency Disease CHL045
Cholinergic Urticaria CHL035
Chondroblastic Osteosarcoma CHN003
Chondroblastoma CHN004
Chondrocalcinosis CHN059
Chondrocalcinosis 2 CHN022 CCAL2
Chondrocalcinosis with Early-Onset Osteoarthritis CHN013 CCAL1
Chondrodysplasia Punctata 1, X-Linked CHN017 CDPX1
Chondrodysplasia Punctata 2, X-Linked CHN018 CDPX2
Chondrodysplasia Punctata Syndrome CHN044
Chondrodysplasia Punctata, Rhizomelic, Type 1 CHN062 RCDP1
Chondrodysplasia Punctata, Rhizomelic, Type 2 CHN058 RCDP2
Chondrodysplasia Punctata, Rhizomelic, Type 3 CHN061 RCDP3
Chondrodysplasia Punctata, Tibia-Metacarpal Type CHN067
Chondrodysplasia Punctata, X-Linked Dominant CHN039 CDPX2
Chondrodysplasia Punctata, X-Linked Recessive CHN038 CDPX1
Chondrodysplasia with Joint Dislocations, Grapp Type CHN043 CDP-GPAPP
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia CHN050 CDP-PBHM
Chondrodysplasia-Pseudohermaphroditism Syndrome CHN064
Chondrodysplasia, Blomstrand Type CHN054 BOCD
Chondrodysplasia, Grebe Type CHN057 AMDG
Chondroid Chordoma CHN009
Chondroid Lipoma CHN001
Chondroma CHN010
Chondromalacia CHN011
Chondromyxoid Fibroma CHN053
Chondrosarcoma CHN012 CHDSA
Chondrosarcoma, Extraskeletal Myxoid CHN056
Chops Syndrome CHP002 CHOPS
Chordoid Glioma CHR033
Chordoid Meningioma CHR055
Chordoma CHR072 CHDM
Chorea and Dementia CHR321
Chorea Gravidarum CHR051
Chorea, Hereditary Benign CHR423 BHC
Choreatic Disease CHR073
Choreoacanthocytosis CHR105 CHAC
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress CHR322 CAHTP
Chorioamnionitis CHR005
Chorioangioma CHR010
Choriocarcinoma CHR074
Choriocarcinoma of Ovary CHR075
Choriocarcinoma of the Testis CHR076
Choriodal Dystrophy, Central Areolar 2 CHR406 CACD2
Chorioretinal Atrophy, Progressive Bifocal CHR167 CRAPB
Chorioretinal Scar CHR077
Chorioretinitis CHR078
Choroid Disease CHR079
Choroid Plexus Cancer CHR573
Choroid Plexus Papilloma CHR029 CPP
Choroidal Sclerosis CHR080
Choroideremia CHR081 CHM
Choroideremia, Deafness, and Mental Retardation CHR506
Choroiditis CHR008
Chrna1-Related Congenital Myasthenic Syndrome CHR323
Chrna1-Related Multiple Pterygium Syndrome, Lethal Type CHR324
Chrna2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHR325
Chrna4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHR326
Chrna7-Related Disorders CHR560
Chrnb1-Related Congenital Myasthenic Syndrome CHR327
Chrnb2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHR328
Chrnd-Related Congenital Myasthenic Syndrome CHR329
Chrnd-Related Multiple Pterygium Syndrome, Lethal Type CHR330
Chrne-Related Congenital Myasthenic Syndrome CHR331
Chrng-Related Disorders CHR332
Chromoblastomycosis CHR031
Chromophobe Adenoma CHR034
Chromophobe Renal Cell Carcinoma CHR177 CRCC
Chromosomal Deletion Syndrome CHR565
Chromosomal Disease CHR084
Chromosomal Duplication Syndrome CHR569
Chromosomal Triplication CHR178
Chromosome 10q Deletion CHR183
Chromosome 10q23 Deletion Syndrome CHR490
Chromosome 10q23 Deletion Syndrome Juvenile Polyposis of Infancy, Included CHR595
Chromosome 10q26 Deletion Syndrome CHR377
Chromosome 11p15.5-Related Russell-Silver Syndrome CHR333
Chromosome 13q14 Deletion Syndrome CHR492
Chromosome 14q11-Q22 Deletion Syndrome CHR390
Chromosome 15q11-Q13 Duplication Syndrome CHR590
Chromosome 15q11.2 Deletion Syndrome CHR523
Chromosome 15q13.3 Microdeletion Syndrome CHR355
Chromosome 15q24 Deletion Syndrome CHR391
Chromosome 15q24 Deletion Syndrome Chromosome 15q24 Duplication Syndrome, Included CHR596
Chromosome 15q25 Deletion Syndrome CHR494
Chromosome 15q26-Qter Deletion Syndrome CHR379
Chromosome 16p11.2 Deletion Syndrome, 220-Kb Body Mass Index Quantitative Trait Locus 16, Included CHR585
Chromosome 16p11.2 Deletion Syndrome, 220kb CHR496
Chromosome 16p11.2 Deletion Syndrome, 593-Kb Autism, Susceptibility to, 14a, Included CHR587
Chromosome 16p11.2 Duplication Syndrome CHR498
Chromosome 16p12.2-P11.2 Deletion Syndrome CHR392
Chromosome 16p13.3 Deletion Syndrome CHR204
Chromosome 16p13.3 Deletion Syndrome, Proximal CHR593
Chromosome 16p13.3 Duplication Syndrome CHR524
Chromosome 16q22 Deletion Syndrome CHR499
Chromosome 17p Deletion CHR208
Chromosome 17p13.1 Deletion Syndrome CHR457
Chromosome 17p13.3, Centromeric, Duplication Syndrome CHR589
Chromosome 17q11.2 Deletion Syndrome CHR554
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb CHR581
Chromosome 17q12 Deletion Syndrome CHR501
Chromosome 17q12 Duplication Syndrome CHR502
Chromosome 17q21.31 Duplication Syndrome CHR362
Chromosome 17q23.1-Q23.2 Deletion Syndrome CHR381
Chromosome 17q23.1-Q23.2 Duplication Syndrome CHR363
Chromosome 18 Pericentric Inversion CHR364
Chromosome 18p Deletion Syndrome CHR211 18P-
Chromosome 18q Deletion Syndrome CHR382
Chromosome 19p13.13 Deletion Syndrome CHR393
Chromosome 19q13.11 Deletion Syndrome CHR219
Chromosome 1p32-P31 Deletion Syndrome CHR383
Chromosome 1p36 Deletion Syndrome CHR222
Chromosome 1q21.1 Deletion Syndrome CHR566
Chromosome 1q21.1 Duplication Syndrome CHR225
Chromosome 1q41-Q42 Deletion Syndrome CHR226
Chromosome 22q11.2 Deletion Syndrome, Distal CHR346
Chromosome 22q11.2 Microduplication Syndrome CHR539
Chromosome 22q13 Duplication Syndrome CHR503
Chromosome 2p12-P11.2 Deletion Syndrome CHR384
Chromosome 2p16.1-P15 Deletion Syndrome CHR396
Chromosome 2q24 Microdeletion Syndrome CHR241
Chromosome 2q31.1 Duplication Syndrome CHR365
Chromosome 2q31.2 Deletion Syndrome CHR385
Chromosome 2q37 Deletion Syndrome CHR543 BDMR
Chromosome 3p Deletion CHR243
Chromosome 3q13.31 Deletion Syndrome CHR483
Chromosome 3q29 Deletion Syndrome CHR594
Chromosome 3q29 Duplication Syndrome CHR582
Chromosome 3q29 Microdeletion Syndrome CHR356
Chromosome 3q29 Microduplication Syndrome CHR246
Chromosome 4p Deletion CHR247
Chromosome 4q21 Deletion Syndrome CHR399
Chromosome 4q32.1-Q32.2 Triplication Syndrome CHR360
Chromosome 5p13 Duplication Syndrome CHR366
Chromosome 5q12 Deletion Syndrome CHR567
Chromosome 6pter-P24 Deletion Syndrome CHR386
Chromosome 6q11-Q14 Deletion Syndrome CHR400
Chromosome 6q24-Q25 Deletion Syndrome CHR568
Chromosome 7q11.23 Duplication Syndrome CHR367
Chromosome 8p Deletion CHR264
Chromosome 8p11 Myeloproliferative Syndrome CHR375
Chromosome 8p23.1 Deletion CHR266
Chromosome 8q21.11 Deletion Syndrome CHR487
Chromosome 9p Deletion Syndrome CHR518
Chromosome 9q Deletion CHR271
Chromosome Xp11.23-P11.22 Duplication Syndrome CHR368
Chromosome Xp11.3 Deletion Syndrome CHR397
Chromosome Xp21 Deletion Syndrome CHR387 DEL
Chromosome Xq26.3 Duplication Syndrome CHR525 X-LAG
Chromosome Xq27.3-Q28 Duplication Syndrome CHR507
Chromosome Xq28 Deletion Syndrome CHR275
Chromosome Xq28 Duplication Syndrome CHR369
Chronic Actinic Dermatitis CHR463
Chronic Active Epstein-Barr Virus Infection CHR276 CEBV
Chronic and Adult-Onset Hexosaminidase a Deficiency CHR335
Chronic Angina CHR476
Chronic Apical Periodontitis CHR013
Chronic Atrial and Intestinal Dysrhythmia CHR515 CAID
Chronic Beryllium Disease CHR576
Chronic Cervicitis CHR085
Chronic Cholangitis CHR036
Chronic Closed-Angle Glaucoma CHR054
Chronic Conjunctivitis CHR086
Chronic Cystitis CHR087
Chronic Dacryocystitis CHR060
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity CHR465
Chronic Endophthalmitis CHR059
Chronic Enteropathy Associated with Slco2a1 Gene CHR603 CEAS
Chronic Eosinophilic Leukemia CHR563
Chronic Eosinophilic Pneumonia CHR037
Chronic Ethmoiditis CHR047
Chronic Fatigue Syndrome CHR066 CFS
Chronic Follicular Conjunctivitis CHR053
Chronic Frontal Sinusitis CHR040
Chronic Gonococcal Salpingitis CHR017
Chronic Graft Versus Host Disease CHR417
Chronic Granulomatous Disease CHR012 CGD
Chronic Granulomatous Disease Due to Deficiency of Ncf-1 CHR404 CGD1
Chronic Granulomatous Disease Due to Deficiency of Ncf-2 CHR405 CGD2
Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba CHR370 ARCGD
Chronic Granulomatous Disease, X-Linked CHR340 CGD
Chronic Infections, Due to Mbl Deficiency CHR359
Chronic Inflammation of Lacrimal Passage CHR088
Chronic Inflammatory Demyelinating Polyneuritis CHR043
Chronic Inflammatory Demyelinating Polyneuropathy CHR283 CIDP
Chronic Inflammatory Demyelinating Polyradiculoneuropathy CHR070
Chronic Interstitial Cystitis CHR020
Chronic Intestinal Failure CHR464 CIF
Chronic Intestinal Pseudoobstruction CHR557 CIPO
Chronic Intestinal Vascular Insufficiency CHR067
Chronic Kidney Failure CHR089 CKD
Chronic Laryngitis CHR057
Chronic Leukemia CHR418 CLL
Chronic Lymphocytic Leukemia CHR090 CLL
Chronic Maxillary Sinusitis CHR038
Chronic Meningitis CHR091
Chronic Monocytic Leukemia CHR064
Chronic Mountain Sickness CHR546
Chronic Mucocutaneous Candidiasis CHR063 CMC
Chronic Myelocytic Leukemia CHR562 CML
Chronic Myelomonocytic Leukemia CHR285 CMML
Chronic Myocardial Ischemia CHR413
Chronic Neutrophilic Leukemia CHR286 CNL
Chronic Nk-Cell Lymphocytosis CHR068
Chronic Orbital Inflammation CHR093
Chronic Pain CHR345
Chronic Polyneuropathy CHR094
Chronic Progressive External Ophthalmoplegia CHR095 PEO
Chronic Pulmonary Heart Disease CHR096
Chronic Purulent Otitis Media CHR097
Chronic Pyelonephritis CHR098
Chronic Recurrent Multifocal Osteomyelitis CHR288 CMO
Chronic Rhinitis CHR048
Chronic Salpingitis CHR099
Chronic Salpingo-Oophoritis CHR018
Chronic Sphenoidal Sinusitis CHR039
Chronic Thromboembolic Pulmonary Hypertension CHR466 CTEPH
Chronic Tic Disorder CHR056
Chronic Ulcer of Skin CHR100
Chronic Venous Insufficiency CHR431
Chronic Venous Leg Ulcers CHR415
Chronic Wasting Disease CHR028
Chudley-Mccullough Syndrome CHD004 CMCS
Churg-Strauss Syndrome CHR001
Chylomicron Retention Disease CHY002 CMRD
Chylothorax, Congenital CHY005
Cicatricial Ectropion CCT001
Cicatricial Entropion CCT003
Cicatricial Pemphigoid CCT002
Ciliary Body Cancer CLR122
Ciliary Dyskinesia-Bronchiectasis CLR028
Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus CLR096 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, with or Without Situs Inversus CLR057 CILD3
Ciliary Dyskinesia, Primary, 30 CLR114 CILD30
Ciliary Dyskinesia, Primary, 31 CLR115 STROMS
Ciliary Dyskinesia, Primary, 32 CLR117 CILD32
Ciliary Dyskinesia, Primary, 4 CLR067 CILD4
Ciliary Dyskinesia, Primary, 5 CLR068 CILD5
Ciliary Dyskinesia, Primary, 6 CLR042 CILD6
Ciliary Dyskinesia, Primary, 7, with or Without Situs Inversus CLR093 CILD7
Ciliary Dyskinesia, Primary, 8 CLR069 CILD8
Ciliary Dyskinesia, Primary, 9, with or Without Situs Inversus CLR103 CILD9
Ciliopathy CLP005
Cinca Syndrome CNC002 CINCA
Cirrhosis, Cryptogenic CRR007 CIRRH
Cirrhosis, North American Indian Childhood Type CRR013 NAIC
Cirrhotic Cardiomyopathy CRR012
Citrullinemia CTR001 CTLN1
Citrullinemia, Adult-Onset Type Ii CTR142 CTLN2
Citrullinemia, Type Ii, Neonatal-Onset CTR077 NICCD
Ck Syndrome CKS001 CKS
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency CLS040
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form CLS028
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form CLS027
Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency CLS025
Classic Fabry Disease CLS011
Classic Mast Cell Leukemia CLS019
Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae CLS035
Classic Phenylketonuria CLS049
Classic Progressive Supranuclear Palsy Syndrome CLS047
Classic Pulmonary Blastoma CLS002
Classic Rett Syndrome CLS012
Clcf1-Related Cold-Induced Sweating Syndrome Including Crisponi Syndrome CLC013 CISS2
Clcn2-Related Juvenile Myoclonic Epilepsy CLC014
Clcn2-Related Leukoencephalopathy CLC058
Clcn7-Related Osteopetrosis CLC009
Clear Cell Acanthoma CLR001
Clear Cell Adenocarcinoma CLR003
Clear Cell Adenofibroma CLR012
Clear Cell Adenoma CLR014
Clear Cell Basal Cell Carcinoma CLR015
Clear Cell Chondrosarcoma CLR005
Clear Cell Cystadenofibroma CLR006
Clear Cell Ependymoma CLR011
Clear Cell Hidradenoma CLR013
Clear Cell Meningioma CLR018
Clear Cell Papillary Renal Cell Carcinoma CLR112
Clear Cell Renal Cell Carcinoma CLR030
Clear Cell Sarcoma CLR017
Cleft Hard Palate CLF034
Cleft Lip CLF001
Cleft Lip +/- Cleft Palate CLF025
Cleft Lip and Alveolus CLF049
Cleft Lip/palate CLF004 FLP
Cleft Lip/palate-Ectodermal Dysplasia Syndrome CLF037 EDMI
Cleft Palate with Ankyloglossia CLF005 CPX
Cleft Palate X-Linked CLF021 CPX
Cleft Palate, Isolated CLF027 CPI
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features CLF048 CPRF
Cleft Soft Palate CLF028
Cleidocranial Dysplasia CLD001 CLCD
Clivus Chordoma CLV002
Clivus Meningioma CLV003
Cll/sll CLL014
Cln12 Disease CLN040
Cln14 Disease CLN041 CLN14
Cln4 Disease CLN039
Cloacal Exstrophy CLC011
Cloacogenic Carcinoma CLC003
Clonorchiasis CLN003
Clopidogrel Resistance CLP006
Clostridium Difficile Colitis CLS016
Clove Syndrome, Somatic CLV009 CLOVE
Clpb Deficiency CLP007 MGA7
Clrn1-Related Retinitis Pigmentosa CLR032
Clubfoot CLB002
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly CLB019 CCF
Cluster Headache CLS010
Cnga1-Related Retinitis Pigmentosa CNG135
Cngb1-Related Retinitis Pigmentosa CNG136
Cngb3-Related Stargardt Disease 1 CNG137
Coach Syndrome CCH002 COACHS
Coarctation of Aorta CRC039
Coasy Protein-Associated Neurodegeneration CSY002 COPAN
Coasy-Associated Neurodegeneration CSY003 NBIA6
Coats Disease CTS003
Cobblestone Lissencephaly CBB005
Cocaine Abuse CCN002
Cocaine Dependence CCN001
Cocaine Intoxication CCN009
Coccidioidomycosis CCC001
Coccidiosis CCC002
Cochlear Disease CCH001
Cockayne Syndrome CCK001 CS
Cockayne Syndrome Type I CCK002
Cockayne Syndrome Type Ii CCK003
Cockayne Syndrome Type Iii CCK004
Cockayne Syndrome, Type a CCK005 CSA
Cockayne Syndrome, Type B CCK006 CSB
Cocoon Syndrome CCN007 COCOS
Codas Syndrome CDS002 CODASS
Codeine Toxicity CDN003
Coenurosis CNR001
Coenzyme Q10 Deficiency Disease CNZ001 COQ10
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
Coffin-Lowry Syndrome CFF002 CLS
Coffin-Siris Syndrome CFF001 CSS1
Coffin-Siris Syndrome 5 CFF006 CSS5
Cog2-Cdg CG2001
Cogan Syndrome CGN006
Cogan-Reese Syndrome CGN001
Cognitive Impairment with or Without Cerebellar Ataxia CGN005 CIAT
Cohen Syndrome CHN016 COH1
Col11a1-Related Stickler Syndrome CL1001
Col11a2-Related Stickler Syndrome CL1002
Col12a1-Related Muscle Diseases CL1005
Col13a1-Related Congenital Myasthenic Syndrome CL1006 CMS19
Col17a1-Related Junctional Epidermolysis Bullosa CL1003
Col1a1/2-Related Osteogenesis Imperfecta CL1004 OI
Col2a1-Associated Stickler Syndrome CL2001
Col2a1-Related Stickler Syndrome CL2002
Col4a1-Related Brain Small-Vessel Disease CL4005
Col4a1-Related Disorders CL4001
Col4a3-Related Nephropathy CL4007
Col4a4-Related Nephropathy CL4008
Col4a5-Related Nephropathy CL4006
Col9a1-Related Multiple Epiphyseal Dysplasia CL9001 EDM6
Col9a1-Related Stickler Syndrome CL9002
Col9a2-Related Multiple Epiphyseal Dysplasia CL9003 EDM2
Col9a2-Related Stickler Syndrome CL9004
Col9a3-Related Multiple Epiphyseal Dysplasia CL9005 EDM3
Colchicine Poisoning CLC053
Colchicine Resistance CLC008
Cold Agglutinin Disease CLD007 CAD
Cold Urticaria CLD011
Cold-Induced Sweating Syndrome CLD003 CISS
Cold-Induced Sweating Syndrome 1 CLD010 CISS1
Cold-Induced Sweating Syndrome 2 CLD016 CISS2
Cold-Induced Sweating Syndrome 3 CLD017 CISS3
Cold-Induced Sweating Syndrome Including Crisponi Syndrome CLD004 CISS
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 Vi-Related Disorders CLL018
Collagen Vi-Related Myopathy CLL038
Collagenous Colitis CLL021
Collecting Duct Carcinoma CLL002 BDC
Colloid Adenoma CLL011
Colloid Carcinoma of the Pancreas CLL009
Coloboma of Eye Lens CLB008
Coloboma of Eyelid CLB018
Coloboma of Iris CLB009
Coloboma of Optic Nerve CLB003 COLON
Coloboma of Optic Papilla CLB012
Coloboma, Ocular CLB027 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
Colobomatous Microphthalmia CLB026 MAC
Colon Adenocarcinoma CLN015
Colon Adenoma CLN044
Colon Cancer, Advanced Somatic CLN046
Colon Carcinoma in Situ CLN004
Colon Lymphoma CLN005
Colon Mucinous Adenocarcinoma CLN002
Colon Neuroendocrine Neoplasm CLN014
Colon Squamous Cell Carcinoma CLN009
Colonic Benign Neoplasm CLN045
Colonic Disease CLN019
Colonic Pseudo-Obstruction CLN006
Color Blindness CLR019
Color Vision Deficiency CLR033
Colorado Tick Fever CLR007
Colorblindness, Deutan CLR063 CBD
Colorblindness, Protan CLR062 CBP
Colorblindness, Tritan CLR064 CBT
Colorectal Adenocarcinoma CLR109
Colorectal Adenoma CLR108
Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas CLR065 PTR
Colorectal Cancer CLR023 CRC
Colorectal Cancer 1 CLR085 CRCS1
Colorectal Cancer 10 CLR077 CRCS10
Colorectal Cancer 11 CLR078
Colorectal Cancer 12 CLR087 CRCS12
Colorectal Cancer 2 CLR079
Colorectal Cancer 3 CLR075 CRCS3
Colorectal Cancer 5 CLR080
Colorectal Cancer 6 CLR081
Colorectal Cancer 7 CLR082
Colorectal Cancer 8 CLR083
Colorectal Cancer 9 CLR084
Colorectal Cancer Susceptibility 10 CLR120
Colorectal Cancer Susceptibility 12 CLR121
Colorectal Cancer, Childhood CLR031
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 CLR070 HNPCC1
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
Colq-Related Congenital Myasthenic Syndrome CLQ001
Combat Disorder CMB002
Combined Cellular and Humoral Immune Defects with Granulomas CMB022 CHIDG
Combined D-2- and L-2-Hydroxyglutaric Aciduria CMB040 D2L2AD
Combined Factor V and Viii Deficiency CMB005 F5F8D1
Combined Immunodeficiency, X-Linked, Moderate CMB023 XCID
Combined Malonic and Methylmalonic Aciduria CMB011 CMAMMA
Combined Oxidative Phosphorylation Defect Type 27 CMB075 COXPD27
Combined Oxidative Phosphorylation Defect Type 29 CMB073 COXPD29
Combined Oxidative Phosphorylation Defect Type 30 CMB074 COXPD30
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 3 CMB014 COXPD3
Combined Oxidative Phosphorylation Deficiency 31 CMB076 COXPD31
Combined Oxidative Phosphorylation Deficiency 4 CMB015 COXPD4
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 Pituitary Hormone Deficiency CMB021 CPHD
Combined Sap Deficiency CMB009 CSAPD
Combined T Cell and B Cell Immunodeficiency CMB003
Combined Thymoma CMB001
Comedo Carcinoma CMD001
Commensal Bacterial Infectious Disease CMM006
Common Bile Duct Disease CMM007
Common Cold CMM005
Common Variable Immunodeficiency CMM004 CVID
Common Variable Osteogenesis Imperfecta with Normal Sclerae CMM020
Common Wart CMM003
Communicating Hydrocephalus CMM008
Compartment Syndrome CMP008
Compensatory Emphysema CMP003
Complement Component 4, Partial Deficiency of CMP040
Complement Component 8 Deficiency CMP066
Complement Component C2 Deficiency CMP036
Complement Component Deficiency CMP031
Complement Component Receptor 1 CMP032
Complement Deficiency CMP009
Complement Factor B Deficiency CMP063 CFBD
Complement Factor D Deficiency CMP041 CFDD
Complement Factor H Deficiency CMP042 CFHD
Complement Factor I Deficiency CMP004 CFI DEFICIENCY
Complete Androgen Insensitivity Syndrome CMP034 CAIS
Complete Atrioventricular Canal CMP035 CAVC
Complete Atrioventricular Canal-Fallot Tetralogy Syndrome CMP068
Complete Atrioventricular Canal-Left Heart Obstruction Syndrome CMP070
Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome CMP069
Complex Lethal Osteochondrodysplasia CMP078 OCLSBG
Complex Partial Epilepsy CMP006
Complex Regional Pain Syndrome CMP010 CRPS
Complication After Organ Transplantation CMP062
Complication in Hemodialysis CMP052
Composite Lymphoma CMP001
Comt-Related Altered Drug Metabolism CMT003
Comt-Related Pain Sensitivity Alteration CMT004
Conduct Disorder CND002
Cone Dystrophy CND005
Cone Dystrophy 4 CND012 COD4
Cone Dystrophy-3 CND018 COD3
Cone-Rod Dystrophy CNR002 CORD2
Cone-Rod Dystrophy 1 CNR003 CRD1
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
Cone-Rod Dystrophy 18 CNR026 CORD18
Cone-Rod Dystrophy 19 CNR029 CORD19
Cone-Rod Dystrophy 20 CNR030 CORD20
Cone-Rod Dystrophy 21 CNR032 CORD21
Cone-Rod Dystrophy 3 CNR005 CORD3
Cone-Rod Dystrophy 4 CNR015 COD4
Cone-Rod Dystrophy 5 CNR006 CORD5
Cone-Rod Dystrophy 6 CNR007 CORD6
Cone-Rod Dystrophy 7 CNR016 CORD7
Cone-Rod Dystrophy 8 CNR023 CORD8
Cone-Rod Dystrophy 9 CNR017 CORD9
Cone-Rod Dystrophy, Prph2-Related CNR035
Cone-Rod Dystrophy, Unc119-Related CNR036
Cone-Rod Dystrophy, X-Linked, 1 CNR031 CORDX1
Cone-Rod Dystropy, X-Linked, 3 CNR028 CORDX3
Cone-Rod Synaptic Disorder, Congenital Nonprogressive CNR033 CRSD
Congenital Absence of the Vas Deferens CNG039 CAVD
Congenital Adrenal Hyperplasia CNG368 CAH
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency CNG138
Congenital Adrenal Insufficiency CNG007
Congenital Analbuminemia CNG336
Congenital Anomalies of Kidney and Urinary Tract CNG380 CAKUT1
Congenital Bilateral Absence of Vas Deferens CNG035 CBAVD
Congenital Bile Acid Synthesis Defect CNG002 CBA
Congenital Bile Acid Synthesis Defect 6 CNG485 CBAS6
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome CNG466
Congenital Cataracts, Facial Dysmorphism, and Neuropathy CNG041 CCFDN
Congenital Cataracts, Hearing Loss, and Neurodegeneration CNG382 CCHLND
Congenital Chloride Diarrhea CNG064 CLD
Congenital Communicating Hydrocephalus CNG253
Congenital Contractures CNG065
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay CNG437 CLIFAHDD
Congenital Cornea Plana CNG433
Congenital Cytomegalovirus CNG069
Congenital Diaphragmatic Hernia CNG015 CDH
Congenital Diarrhea CNG478
Congenital Disorder of Deglycosylation CNG436 CDDG
Congenital Disorder of Glycosylation 1aa CNG494 CDG1AA
Congenital Disorder of Glycosylation, Type Ia CNG415 CDG1A
Congenital Disorder of Glycosylation, Type Ib CNG189 CDG1B
Congenital Disorder of Glycosylation, Type Ic CNG196 CDG1C
Congenital Disorder of Glycosylation, Type Id CNG195 CDG1D
Congenital Disorder of Glycosylation, Type Ie CNG206 EIEE36
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 Ii CNG412 CDG2E
Congenital Disorder of Glycosylation, Type Iia CNG191 CDG2A
Congenital Disorder of Glycosylation, Type Iib CNG190 CDGIIB
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 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 Io CNG207 CDG1O
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, Type Iz CNG435 EIEE50
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway CNG486
Congenital Dyserythropoietic Anemia CNG003 CDA
Congenital Epulis CNG004
Congenital Fiber-Type Disproportion CNG046 CFTD
Congenital Fibrosarcoma CNG023
Congenital Generalized Hypercontractile Muscle Stiffness Syndrome CNG493
Congenital Generalized Lipodystrophy CNG012 BSCL
Congenital Granular Cell Tumor CNG022
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly CNG410 CHDTHP
Congenital Heart Defects, Multiple Types, 3 CNG385
Congenital Heart Defects, Multiple Types, 4 CNG404 CHTD4
Congenital Heart Defects, Nonsyndromic, 2 CNG384 CHTD2
Congenital Heart Disease, Atrial Septal Defect CNG148 ASD
Congenital Hemolytic Anemia CNG027
Congenital Hepatic Fibrosis CNG048 CHF
Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome CNG490
Congenital Hydrocephalus CNG216
Congenital Hypogammaglobulinemia CNG020
Congenital Hypomyelination Neuropathy CNG102
Congenital Hypoplastic Anemia CNG028
Congenital Hypothyroidism CNG006 CH
Congenital Hypothyroidism, Duox2-Related CNG149
Congenital Hypothyroidism, Duoxa2-Related CNG445 TDH5
Congenital Hypothyroidism, Iyd-Related CNG150
Congenital Hypothyroidism, Tpo-Related CNG153
Congenital Ichthyosiform Erythroderma CNG008 LI
Congenital Insensitivity to Pain with Severe Intellectual Disability CNG472
Congenital Intrauterine Infection-Like Syndrome CNG418
Congenital Intrinsic Factor Deficiency CNG016 IFD
Congenital Knee Dislocation CNG282
Congenital Leptin Deficiency CNG376 LEPD
Congenital Lymphedema CNG439
Congenital Mesoblastic Nephroma CNG029
Congenital Methemoglobinemia CNG223
Congenital Muscular Dystrophy Due to Lmna Mutation CNG420 MDCL
Congenital Muscular Dystrophy Type 1a CNG112
Congenital Muscular Dystrophy with Cerebellar Involvement CNG426
Congenital Muscular Dystrophy with Intellectual Disability CNG427
Congenital Muscular Dystrophy Without Intellectual Disability CNG428
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 10 CNG446
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 12 CNG447
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 13 CNG448
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 14 CNG449
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 6 CNG487
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B 6 CNG488
Congenital Myasthenic Syndrome CNG001 CMS
Congenital Myasthenic Syndrome 19 CNG483 CMS19
Congenital Myasthenic Syndrome 20 CNG481 CMS20
Congenital Myasthenic Syndrome 21 CNG482 CMS21
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 CNG464
Congenital Myopathy with Myasthenic-Like Onset CNG459
Congenital Myopathy, Paradas Type CNG234
Congenital Nephrotic Syndrome Finnish Type CNG116 CNF
Congenital Nervous System Abnormality CNG031
Congenital Non-Communicating Hydrocephalus CNG252
Congenital Nonhemolytic Jaundice CNG117
Congenital Nonspherocytic Hemolytic Anemia CNG017 HNSHA
Congenital Nystagmus CNG024
Congenital Plasminogen Deficiency CNG171
Congenital Pulmonary Airway Malformation CNG390 CCAM
Congenital Pulmonary Alveolar Proteinosis CNG121
Congenital Rubella CNG124 CRS
Congenital Secretory Sodium Diarrhea 8 CNG479 DIAR8
Congenital Short Bowel Syndrome CNG413 CSBS
Congenital Sialidosis Type 2 CNG348
Congenital Stationary Night Blindness CNG010
Congenital Stationary Night Blindness 1h CNG484 CSNB1H
Congenital Stationary Night Blindness, Type 2b CNG169
Congenital Structural Myopathy CNG032
Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance CNG301
Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance CNG304
Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance CNG299
Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance CNG300
Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance CNG305
Congenital Syphilis CNG033
Congenital Toxoplasmosis CNG021
Congenital Vertical Talus, Bilateral CNG316
Congenital Vertical Talus, Unilateral CNG315
Congestive Heart Failure CNG034 CHF
Conidiobolomycosis CND001
Conjugate Gaze Palsy CNJ001
Conjunctival Cancer CNJ009
Conjunctival Degeneration CNJ010
Conjunctival Deposit CNJ011
Conjunctival Disease CNJ012
Conjunctival Folliculosis CNJ002
Conjunctival Intraepithelial Neoplasm CNJ006
Conjunctival Nevus CNJ017
Conjunctival Pigmentation CNJ004
Conjunctival Squamous Cell Carcinoma CNJ018
Conjunctivitis CNJ013
Conjunctivochalasis CNJ007
Conn's Syndrome CNN003
Connective Tissue Benign Neoplasm CNN010
Connective Tissue Cancer CNN004
Connective Tissue Disease CNN005
Conotruncal Heart Malformations CNT061 CTHM
Constipation CNS004
Constrictive Pericarditis CNS002
Contact Dermatitis CNT047
Contagious Pustular Dermatitis CNT001 ORF
Contractural Arachnodactyly, Congenital CNT099 DA9
Conventional Angiosarcoma CNV001
Conventional Central Osteosarcoma CNV007
Conventional Fibrosarcoma CNV003
Conventional Leiomyosarcoma CNV006
Conversion Disorder CNV002 FND
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis CNV018 ICCA
Coproporphyria CPR001 HCP
Coq2-Related Coenzyme Q10 Deficiency CQ2001
Coq4-Related Coenzyme Q10 Deficiency CQ4001
Coq6-Related Coenzyme Q10 Deficiency CQ6001
Coq7-Related Coenzyme Q10 Deficiency CQ7001 COQ10D8
Coq8a-Related Coenzyme Q10 Deficiency CQ8001
Coq9-Related Coenzyme Q10 Deficiency CQ9001
Core Binding Factor Acute Myeloid Leukemia CRB138
Cork-Handlers' Disease CRK001
Cornea Cancer CRN021
Cornea Guttata with Anterior Polar Cataract CRN058
Cornea Plana CRN249
Cornea Plana Congenita, Recessive CRN136 CNA2
Corneal Abscess CRN004
Corneal Degeneration CRN022
Corneal Deposit CRN023
Corneal Disease CRN024
Corneal Dystrophy CRN025
Corneal Dystrophy, Avellino Type CRN237 CDA
Corneal Dystrophy, Congenital Stromal CRN241 CSCD
Corneal Dystrophy, Endothelial, X-Linked CRN128 XECD
Corneal Dystrophy, Epithelial Basement Membrane CRN238 EBMD
Corneal Dystrophy, Fuchs Endothelial, 1 CRN233 FECD1
Corneal Dystrophy, Fuchs Endothelial, 2 CRN242
Corneal Dystrophy, Fuchs Endothelial, 3 CRN120 FECD3
Corneal Dystrophy, Fuchs Endothelial, 4 CRN143 FECD4
Corneal Dystrophy, Fuchs Endothelial, 5 CRN121
Corneal Dystrophy, Fuchs Endothelial, 6 CRN147 FECD6
Corneal Dystrophy, Fuchs Endothelial, 7 CRN122
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, Posterior Amorphous CRN274 PACD
Corneal Dystrophy, Posterior Polymorphous 2 CRN229 PPCD2
Corneal Dystrophy, Posterior Polymorphous, 1 CRN231 PPCD1
Corneal Dystrophy, Posterior Polymorphous, 3 CRN146 PPCD3
Corneal Dystrophy, Reis-Bucklers Type CRN141 CDRB
Corneal Dystrophy, Schnyder Type CRN244 SCCD
Corneal Dystrophy, Subepithelial Mucinous CRN273 SMCD
Corneal Dystrophy, Thiel-Behnke Type CRN247 CDTB
Corneal Ectasia CRN009
Corneal Edema CRN026
Corneal Endothelial Dystrophy CRN276
Corneal Endothelial Dystrophy 1, Autosomal Dominant CRN222 CHED
Corneal Endothelial Dystrophy 2, Autosomal Recessive CRN107 CHED
Corneal Endothelial Dystrophy and Perceptive Deafness CRN142 CDPD
Corneal Endothelial Dystrophy Type 2 CRN068 CHED2
Corneal Fleck Dystrophy CRN046 CFD
Corneal Granular Dystrophy CRN010
Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia CRN219 MSPC
Corneal Neovascularization CRN027
Corneal Opacification and Other Ocular Anomalies CRN230 ASGD7
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 CRN135 CDLS3
Cornelia De Lange Syndrome 4 CRN215 CDLS4
Cornelia De Lange Syndrome 5 CRN209 CDLS5
Coronary Aneurysm CRN006
Coronary Artery Aneurysm CRN074
Coronary Artery Disease CRN211 CHD
Coronary Artery Disease, Autosomal Dominant, 1 CRN133 ADCAD1
Coronary Artery Disease, Autosomal Dominant, 2 CRN123 ADCAD2
Coronary Artery Vasospasm CRN019
Coronary Heart Disease 2 CRN174
Coronary Heart Disease 3 CRN172
Coronary Heart Disease 4 CRN175
Coronary Heart Disease 5 CRN214 CHDS5
Coronary Heart Disease 6 CRN178 CHDS6
Coronary Heart Disease 7 CRN177 CHDS7
Coronary Heart Disease 8 CRN173
Coronary Heart Disease 9 CRN176
Coronary Restenosis CRN020
Coronary Stenosis CRN030
Coronary Thrombosis CRN017
Coronin-1a Deficiency CRN011
Corpus Callosum Agenesis CRP010
Corpus Callosum Lipoma CRP003
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia CRP019 MRXS28
Corpus Callosum, Partial Agenesis of CRP025 ACCPX
Corpus Luteum Cyst CRP004
Cortical Blindness CRT012
Cortical Deafness CRT007
Cortical Dysgenesis with Pontocerebellar Hypoplasia Due to Tubb3 Mutation CRT059
Cortical Dysplasia-Focal Epilepsy Syndrome CRT037 PTHSL1
Cortical Dysplasia, Complex, with Other Brain Malformations 1 CRT070 CDCBM1
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 Malformations, Occipital CRT069 OCCM
Cortical Senile Cataract CRT003
Cortical Thymoma CRT005
Corticobasal Degeneration CRT033 CBGD
Corticosteroid-Binding Globulin Deficiency CRT046 CBG DEFICIENCY
Corticosterone Methyloxidase Deficiency CRT064
Cortisone Reductase Deficiency CRT020
Cortisone Reductase Deficiency 1 CRT065 CRD
Cortisone Reductase Deficiency 2 CRT066
Costello Syndrome CST001 CMEMS
Cough Variant Asthma CGH001
Coumarin Resistance CMR002 CMRES
Cousin Syndrome CSN001 COUSS
Cow Milk Allergy CWM001
Cowchock Syndrome CWC001 COWCK
Cowden Disease CWD001 CD
Cowden Syndrome 1 CWD006 CWS1
Cowden Syndrome 2 CWD003 CWS2
Cowden Syndrome 3 CWD007 CWS3
Cowden Syndrome 4 CWD005 CWS4
Cowden Syndrome 5 CWD004 CWS5
Cowden Syndrome 6 CWD008 CWS6
Cowden Syndrome 7 CWD009 CWS7
Cowpox CWP001 YABA
Cpt Deficiency, Hepatic, Type Ia CPT003 CPT1AD
Cpt Deficiency, Hepatic, Type Ii CPT004 CPT2DI
Cpt Ii Deficiency, Lethal Neonatal CPT005 CPT2DLN
Cr2-Related Common Variable Immune Deficiency CR2001 CVID7
Cr2-Related Susceptibility to Systemic Lupus Erythematosus CR2002 SLEB9
Cramp-Fasciculation Syndrome CRM010
Crane-Heise Syndrome CRN076
Cranial Nerve Disease CRN031
Cranial Nerve Malignant Neoplasm CRN033
Cranial Nerve Palsy CRN035
Cranio-Facial Dystonia CRN225
Craniodiaphyseal Dysplasia CRN013 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 Anomalies and Anterior Segment Dysgenesis Syndrome CRN210 CAASDS
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome CRN212 CFSMR
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome CRN275
Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development CRN265 CRJS
Craniofacial-Deafness-Hand Syndrome CRN048 CDHS
Craniofacioskeletal Syndrome CRN156
Craniofrontonasal Dysplasia CRN248 CFNS
Craniolenticulosutural Dysplasia CRN049 CLSD
Craniometaphyseal Dysplasia CRN012 CMDD
Craniometaphyseal Dysplasia, Autosomal Recessive CRN240 CMDR
Cranioosteoarthropathy CRN246 COA
Craniopharyngioma CRN036
Craniorachischisis CRN088
Craniosynostosis CRN037 CSO
Craniosynostosis 3 CRN217 CRS3
Craniosynostosis 4 CRN221 CRS4
Craniosynostosis 5 CRN216 CRS5
Craniosynostosis 6 CRN256 CRS6
Craniosynostosis and Dental Anomalies CRN200 CRSDA
Craniosynostosis Autosomal Dominant CRN093
Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies CRN213 RHFCA
Craniosynostosis, Adelaide Type CRN234
Craniosynostosis, Nonsyndromic CRN112
Craniosynostosis, Philadelphia Type CRN245 SD1
Craniosynostosis, Type 1 CRN159 CRS1
Craniosynostosis, Type 2 CRN158 CRS2
Crb1-Related Leber Congenital Amaurosis CRB082
Crb1-Related Retinitis Pigmentosa CRB083 RP12
Creatine Deficiency Syndromes CRT055
Creatine Phosphokinase, Elevated Serum CRT045 HYPCK
Crebbp-Related Rubinstein-Taybi Syndrome CRB084
Crescentic Glomerulonephritis CRS001
Crest Syndrome CRS005
Creutzfeldt-Jakob Disease CRT072 CJD
Crh-Related Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CRH003
Cri-Du-Chat Syndrome CRD002
Cribriform Carcinoma CRB006
Crigler-Najjar Syndrome, Type I CRG003 CN1
Crigler-Najjar Syndrome, Type Ii CRG004 CN2
Crimean-Congo Hemorrhagic Fever CRM001 CCHF
Criss-Cross Heart CRS011
Critical Illness Polyneuropathy CRT009
Critical Limb Ischemia CRT049 CLI
Crlf1-Related Cold-Induced Sweating Syndrome Including Crisponi Syndrome CRL003 CISS1
Crohn's Colitis CRH005
Crohn's Disease CRH001
Croup CRP002 CROUP
Crouzon Syndrome CRZ001 CS
Crouzon Syndrome with Acanthosis Nigricans CRZ002 CAN
Crtap-Related Osteogenesis Imperfecta CRT041
Crustacean Allergy CRS013
Crx-Related Leber Congenital Amaurosis CRX001
Crx-Related Retinitis Pigmentosa CRX002
Cryab-Related Dilated Cardiomyopathy CRY025
Cryofibrinogenemia CRY006
Cryoglobulinemia CRY004
Cryoglobulinemia, Familial Mixed CRY007 MC
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly CRY028 SDCHCN
Cryopyrin-Associated Periodic Syndrome CRY008 CAPS
Cryptococcal Meningitis CRY014
Cryptococcosis CRY005
Cryptogenic Multifocal Ulcerous Stenosing Enteritis CRY031 CMUSE
Cryptogenic Organizing Pneumonia CRY001 COP
Cryptophthalmos CRY010
Cryptorchidism CRY002 CRYPTO
Cryptosporidiosis CRY003
Csf1r-Related Hereditary Diffuse Leukoencephalopathy with Spheroids CSF001
Csf2ra-Related Pulmonary Surfactant Metabolism Dysfunction CSF002
Csfrb-Related Pulmonary Surfactant Metabolism Dysfunction CSF003 SMDP5
Cspp1-Related Joubert Syndrome CSP004
Csrp3-Related Dilated Cardiomyopathy CSR004
Csrp3-Related Familial Hypertrophic Cardiomyopathy CSR005
Ctrc-Related Hereditary Pancreatitis CTR042
Cubitus Valgus with Mental Retardation and Unusual Facies CBT001
Culler-Jones Syndrome CLL036 CJS
Curariform Drugs Toxicity CRR014
Curly Hair-Acral Keratoderma-Caries Syndrome CRL002 CHACS
Currarino Syndrome CRR002 CURRAS
Currarino Triad CRR004
Cushing Syndrome Due to Macronodular Adrenal Hyperplasia CSH006
Cushing's Syndrome CSH001
Cutaneous Adenocystic Carcinoma CTN009
Cutaneous Anthrax CTN013
Cutaneous Candidiasis CTN033
Cutaneous Diphtheria CTN005
Cutaneous Fibrous Histiocytoma CTN004
Cutaneous Ganglioneuroma CTN010
Cutaneous Leiomyosarcoma CTN012
Cutaneous Leishmaniasis CTN007
Cutaneous Lupus Erythematosus CTN003
Cutaneous Mastocytoma CTN027
Cutaneous Mastocytosis CTN014 CM
Cutaneous Mucoepidermoid Carcinoma CTN002
Cutaneous Polyarteritis Nodosa CTN019
Cutaneous Porphyria CTN011
Cutaneous Solitary Mastocytoma CTN001
Cutaneous T Cell Lymphoma CTN015 CTCL
Cutaneous Telangiectasia and Cancer Syndrome, Familial CTN028 FCTCS
Cutis Laxa CTS001
Cutis Laxa, Ad CTS019 ADCL1
Cutis Laxa, Autosomal Dominant CTS008 ADCL
Cutis Laxa, Autosomal Dominant 2 CTS031 ADCL2
Cutis Laxa, Autosomal Dominant 3 CTS041 ADCL3
Cutis Laxa, Autosomal Recessive Type 1 CTS034 ARCL1
Cutis Laxa, Autosomal Recessive, Type Ia CTS030 ARCL1A
Cutis Laxa, Autosomal Recessive, Type Ib CTS037 ARCL1B
Cutis Laxa, Autosomal Recessive, Type Ic CTS033 URDS
Cutis Laxa, Autosomal Recessive, Type Iia CTS038 ARCL2A
Cutis Laxa, Autosomal Recessive, Type Iib CTS023 ARCL2B
Cutis Laxa, Autosomal Recessive, Type Iiia CTS029 ARCL3A
Cutis Laxa, Autosomal Recessive, Type Iiib CTS032 ARCL3B
Cutis Marmorata Telangiectatica Congenita CTS011 CMTC
Cyanide Poisoning CYN003
Cyanosis, Transient Neonatal CYN002 TNCY
Cyclic Thrombocytopenia CYC007
Cyclic Vomiting Syndrome CYC008 CVS
Cycloplegia CYC001
Cyclosporiasis CYC002
Cyclothymic Disorder CYC005
Cylindromatosis, Familial CYL004 FCYL
Cyp1a2-Related Altered Drug Metabolism CYP004
Cyp1b1-Related Primary Congenital Glaucoma CYP002
Cyp2b6-Related Altered Drug Metabolism CYP005
Cyp2c19-Related Altered Drug Metabolism CYP006
Cyp2c8-Related Altered Drug Metabolism CYP007
Cyp2c9-Related Altered Drug Metabolism CYP008
Cyp2d6-Related Altered Drug Metabolism CYP009
Cyp3a4-Related Altered Drug Metabolism CYP010
Cyp3a5-Related Altered Drug Metabolism CYP011
Cyp4f2-Related Altered Drug Metabolism CYP012
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis CYP003
Cystadenocarcinoma CYS014
Cystadenofibroma CYS015
Cystadenoma CYS009
Cystathioninuria CYS019 CSTNU
Cystic Angiomatosis of Bone, Diffuse CYS041
Cystic Basal Cell Carcinoma CYS004
Cystic Echinococcosis CYS008
Cystic Fibrosis CYS001 CF
Cystic Kidney Disease CYS039
Cystic Lymphangioma CYS002
Cystic Nephroma CYS007
Cystic Teratoma CYS017
Cysticercosis CYS005
Cystinosis CYS010
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic CYS025 CTNSJAN
Cystinosis, Nephropathic CYS036 CTNS
Cystinosis, Ocular Nonnephropathic CYS024 CTNSANN
Cystinuria CYS013 CSNU
Cystitis CYS018
Cystitis Cystica CYS003
Cystoisosporiasis CYS011
Cytochrome P450 Oxidoreductase Deficiency CYT014 PORD
Cytogenetically Normal Acute Myeloid Leukemia CYT019
Cytokine Deficiency CYT002
Cytomegalic Congenital Adrenal Hypoplasia CYT020
Cytomegalovirus Infection CYT008
Cytomegalovirus Retinitis CYT005
Cytophagic Histiocytic Panniculitis CYT017 CHP
Cytoplasmic Body Myopathy CYT006
Czech Dysplasia CZC002 CZECHD