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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).

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Human Diseases/Syndromes Beginning with "C"

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OMIM IDHuman Disease
613652 C1q Deficiency; C1QD
114030 Cafe-Au-Lait Spots, Multiple
114000 Caffey Disease
211770 Cahmr Syndrome
114065 Calcific Aortic Disease with Immunologic Abnormalities, Familial
211800 Calcification of Joints and Arteries; CALJA
601199 Calcium-Sensing Receptor; CASR
114140 Callosities, Hereditary Painful
302030 Calvarial Hyperostosis
604257 Camera-Marugo-Cohen Syndrome
211890 Campomelia, Cumming Type
114290 Campomelic Dysplasia (7 mouse models)
114150 Camptobrachydactyly
114200 Camptodactyly 1; CAMPD1
208250 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome; CACP (1 mouse models)
211965 Camptodactyly-Ichthyosis Syndrome
602612 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye
211910 Camptodactyly Syndrome, Guadalajara, Type I; GCS1
211920 Camptodactyly Syndrome, Guadalajara, Type II
611929 Camptodactyly Syndrome, Guadalajara, Type III
610474 Camptodactyly, Tall Stature, and Hearing Loss Syndrome
211930 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia
211960 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases
211990 Camptomelic Syndrome, Long-Limb Type
607539 Camptosynpolydactyly, Complex
131300 Camurati-Engelmann Disease; CAEND (1 mouse models)
606631 Camurati-Engelmann Disease, Type 2
271900 Canavan Disease (3 mouse models)
114450 Cancer, Familial, with in Vitro Radioresistance
114580 Candidiasis, Familial, 1; CANDF1
212050 Candidiasis, Familial, 2; CANDF2
607644 Candidiasis, Familial, 3; CANDF3
613108 Candidiasis, Familial, 4; CANDF4
613953 Candidiasis, Familial, 5; CANDF5
613956 Candidiasis, Familial, 6; CANDF6
614162 Candidiasis, Familial, 7; CANDF7
615527 Candidiasis, Familial, 8; CANDF8
114600 Canine Teeth, Absence of Upper Permanent
239850 Cantu Syndrome
608354 Capillary Malformation-Arteriovenous Malformation; CMAVM
613089 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth
163000 Capillary Malformations, Congenital; CMC
114700 Carabelli Anomaly of Maxillary Molar Teeth
608307 Carbamoyl Phosphate Synthetase I; CPS1
237300 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to (1 mouse models)
212060 Carbimazole Sensitivity
114835 Carboxylesterase 1; CES1
212070 Carboxypeptidase N Deficiency
114900 Carcinoid Tumors, Intestinal
115000 Cardiac Arrhythmia (1 mouse models)
600919 Cardiac Arrhythmia, Ankyrin-B-Related
115080 Cardiac Conduction Defect
212080 Cardiac Lipidosis, Familial
600987 Cardiac Malformation, Cleft Lip/Palate, Microcephaly and Digital Anomalies
212090 Cardiac Septal Defects with Coarctation of the Aorta
212093 Cardiac Valvular Defect, Developmental
314400 Cardiac Valvular Dysplasia, X-Linked; CVD1
212100 Cardioauditory Syndrome of Sanchez Cascos
604377 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1; CEMCOX1
615119 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2; CEMCOX2
115150 Cardiofaciocutaneous Syndrome 1; CFC1 (3 mouse models)
615278 Cardiofaciocutaneous Syndrome 2; CFC2
615279 Cardiofaciocutaneous Syndrome 3; CFC3
615280 Cardiofaciocutaneous Syndrome 4; CFC4
212130 Cardiomyopathy Associated with Myopathy and Sudden Death
612158 Cardiomyopathy, Dilated, 1aa; CMD1AA
115200 Cardiomyopathy, Dilated, 1A; CMD1A (4 mouse models)
612877 Cardiomyopathy, Dilated, 1bb; CMD1BB
600884 Cardiomyopathy, Dilated, 1B; CMD1B
613122 Cardiomyopathy, Dilated, 1cc; CMD1CC
601493 Cardiomyopathy, Dilated, 1C; CMD1C (2 mouse models)
601494 Cardiomyopathy, Dilated, 1D; CMD1D (3 mouse models)
613172 Cardiomyopathy, Dilated, 1dd; CMD1DD
601154 Cardiomyopathy, Dilated, 1E; CMD1E
613252 Cardiomyopathy, Dilated, 1ee; CMD1EE
613286 Cardiomyopathy, Dilated, 1ff; CMD1FF
604145 Cardiomyopathy, Dilated, 1G; CMD1G (1 mouse models)
613642 Cardiomyopathy, Dilated, 1gg; CMD1GG
604288 Cardiomyopathy, Dilated, 1H; CMD1H
613881 Cardiomyopathy, Dilated, 1hh; CMD1HH
604765 Cardiomyopathy, Dilated, 1I; CMD1I (1 mouse models)
615184 Cardiomyopathy, Dilated, 1ii; CMD1II
605362 Cardiomyopathy, Dilated, 1J; CMD1J
615235 Cardiomyopathy, Dilated, 1jj; CMD1JJ
605582 Cardiomyopathy, Dilated, 1K; CMD1K
615248 Cardiomyopathy, Dilated, 1kk; CMD1KK
606685 Cardiomyopathy, Dilated, 1L; CMD1L (2 mouse models)
607482 Cardiomyopathy, Dilated, 1M; CMD1M (1 mouse models)
607487 Cardiomyopathy, Dilated, 1N; CMD1N
608569 Cardiomyopathy, Dilated, 1O; CMD1O
609909 Cardiomyopathy, Dilated, 1p; CMD1P
609915 Cardiomyopathy, Dilated, 1q; CMD1Q
613424 Cardiomyopathy, Dilated, 1r; CMD1R (1 mouse models)
613426 Cardiomyopathy, Dilated, 1s; CMD1S
613740 Cardiomyopathy, Dilated, 1t; CMD1T
613694 Cardiomyopathy, Dilated, 1u; CMD1U
613697 Cardiomyopathy, Dilated, 1v; CMD1V
611407 Cardiomyopathy, Dilated, 1w; CMD1W
611615 Cardiomyopathy, Dilated, 1x; CMD1X
611878 Cardiomyopathy, Dilated, 1y; CMD1Y
611879 Cardiomyopathy, Dilated, 1z; CMD1Z
611880 Cardiomyopathy, Dilated, 2A; CMD2A
614672 Cardiomyopathy, Dilated, 2B; CMD2B
302045 Cardiomyopathy, Dilated, 3b; CMD3B (2 mouse models)
212112 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism
605676 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma; DCWHK
608758 Cardiomyopathy, Familial Hypertrophic, 10; CMH10 (1 mouse models)
612098 Cardiomyopathy, Familial Hypertrophic, 11; CMH11 (1 mouse models)
612124 Cardiomyopathy, Familial Hypertrophic, 12; CMH12 (1 mouse models)
613243 Cardiomyopathy, Familial Hypertrophic, 13; CMH13
613251 Cardiomyopathy, Familial Hypertrophic, 14; CMH14 (6 mouse models)
613255 Cardiomyopathy, Familial Hypertrophic, 15; CMH15
613838 Cardiomyopathy, Familial Hypertrophic, 16; CMH16
613873 Cardiomyopathy, Familial Hypertrophic, 17; CMH17
613874 Cardiomyopathy, Familial Hypertrophic, 18; CMH18
613875 Cardiomyopathy, Familial Hypertrophic, 19; CMH19
192600 Cardiomyopathy, Familial Hypertrophic, 1; CMH1 (1 mouse models)
613876 Cardiomyopathy, Familial Hypertrophic, 20; CMH20
614676 Cardiomyopathy, Familial Hypertrophic, 21; CMH21
115195 Cardiomyopathy, Familial Hypertrophic, 2; CMH2 (5 mouse models)
115196 Cardiomyopathy, Familial Hypertrophic, 3; CMH3 (1 mouse models)
115197 Cardiomyopathy, Familial Hypertrophic, 4; CMH4 (4 mouse models)
600858 Cardiomyopathy, Familial Hypertrophic, 6; CMH6 (1 mouse models)
613690 Cardiomyopathy, Familial Hypertrophic, 7; CMH7
608751 Cardiomyopathy, Familial Hypertrophic, 8; CMH8 (1 mouse models)
613765 Cardiomyopathy, Familial Hypertrophic, 9; CMH9
115210 Cardiomyopathy, Familial Restrictive, 1; RCM1
609578 Cardiomyopathy, Familial Restrictive, 2; RCM2
612422 Cardiomyopathy, Familial Restrictive, 3; RCM3
300829 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification
500000 Cardiomyopathy, Infantile Histiocytoid
606842 Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
212135 Cardioskeletal Syndrome, Kuwaiti Type
114650 Car Factor Deficiency
160980 Carney Complex, Type 1; CNC1 (4 mouse models)
605244 Carney Complex, Type 2; CNC2
608837 Carney Complex Variant
604287 Carney Triad
606175 Carnitine Acetyltransferase Deficiency
212138 Carnitine-Acylcarnitine Translocase Deficiency
212160 Carnitine Deficiency, Myopathic
212140 Carnitine Deficiency, Systemic Primary; CDSP (1 mouse models)
255120 Carnitine Palmitoyltransferase I Deficiency (1 mouse models)
600649 Carnitine Palmitoyltransferase II Deficiency, Infantile
255110 Carnitine Palmitoyltransferase II Deficiency, Late-Onset
608836 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
212200 Carnosinemia
600643 Caroli Disease, Isolated
604172 Caronte
609338 Carotid Intimal Medial Thickness 1
115400 Carpal Displacement
115430 Carpal Tunnel Syndrome; CTS1
201000 Carpenter Syndrome 1; CRPT1
614976 Carpenter Syndrome 2; CRPT2 (1 mouse models)
250250 Cartilage-Hair Hypoplasia; CHH
607271 CASPase 8 Deficiency (1 mouse models)
600881 Cataract 10, Multiple Types; CTRCT10 (2 mouse models)
610623 Cataract 11, Multiple Types; CTRCT11
611597 Cataract 12, Multiple Types; CTRCT12
601885 Cataract 14, Multiple Types; CTRCT14
615274 Cataract 15, Multiple Types; CTRCT15 (6 mouse models)
613763 Cataract 16, Multiple Types; CTRCT16
611544 Cataract 17, Multiple Types; CTRCT17
610019 Cataract 18; CTRCT18
615277 Cataract 19; CTRCT19 (4 mouse models)
116200 Cataract 1, Multiple Types; CTRCT1 (4 mouse models)
116100 Cataract 20, Multiple Types; CTRCT20 (3 mouse models)
610202 Cataract 21, Multiple Types; CTRCT21 (1 mouse models)
609741 Cataract 22; CTRCT22
610425 Cataract 23; CTRCT23
601202 Cataract 24; CTRCT24
605728 Cataract 25; CTRCT25
605749 Cataract 26, Multiple Types; CTRCT26
607304 Cataract 27; CTRCT27
609026 Cataract 28; CTRCT28
115800 Cataract 29; CTRCT29
604307 Cataract 2, Multiple Types; CTRCT2 (4 mouse models)
116300 Cataract 30; CTRCT30
605387 Cataract 31, Multiple Types; CTRCT31
115650 Cataract 32, Multiple Types; CTRCT32
611391 Cataract 33; CTRCT33
612968 Cataract 34, Multiple Types; CTRCT34
609376 Cataract 35; CTRCT35
613887 Cataract 36; CTRCT36
614422 Cataract 37; CTRCT37
614691 Cataract 38; CTRCT38
615188 Cataract 39, Multiple Types; CTRCT39 (6 mouse models)
601547 Cataract 3, Multiple Types; CTRCT3 (3 mouse models)
302200 Cataract 40; CTRCT40
116400 Cataract 41; CTRCT41
115700 Cataract 4, Multiple Types; CTRCT4 (2 mouse models)
116800 Cataract 5, Multiple Types; CTRCT5 (1 mouse models)
116600 Cataract 6, Multiple Types; CTRCT6 (1 mouse models)
115660 Cataract 7; CTRCT7
115665 Cataract 8, Multiple Types; CTRCT8
604219 Cataract 9, Multiple Types; CTRCT9 (9 mouse models)
115645 Cataract, Aberrant Oral Frenula, and Growth Retardation
601371 Cataract, Age-Related Nuclear (1 mouse models)
212400 Cataract and Congenital Ichthyosis
212710 Cataract-Ataxia-Deafness-Retardation Syndrome
300619 Cataract, Ataxia, Short Stature, and Mental Retardation
212500 Cataract, Congenital or Juvenile
607674 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy
115900 Cataract, Floriform
612018 Cataract, Juvenile, with Microcornea and Glucosuria; CJMG
212540 Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome
601088 Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
116700 Cataract, Total Congenital
116850 Catatrichy
116790 Catechol-O-Methyltransferase; COMT
302380 Catel-Manzke Syndrome
115470 Cat Eye Syndrome; CES
607864 Caudal Duplication Anomaly
611543 Cavitary Optic Disc Anomalies
125520 Cayler Cardiofacial Syndrome
614893 Cd11c-Positive/Cd1c-Positive Dendritic Cell Deficiency, Autosomal Dominant
601083 CD4/CD8 T-Cell Ratio
608957 CD8 Deficiency, Familial
603116 Cdags Syndrome
116870 Celiac Artery Stenosis From Compression By Median Arcuate Ligament of Diaphragm
212750 Celiac Disease; CD
612008 Celiac Disease, Susceptibility to, 10; CELIAC10
612009 Celiac Disease, Susceptibility to, 11; CELIAC11
612010 Celiac Disease, Susceptibility to, 12; CELIAC12
612011 Celiac Disease, Susceptibility to, 13; CELIAC13
609754 Celiac Disease, Susceptibility to, 2; CELIAC2
609755 Celiac Disease, Susceptibility to, 3; CELIAC3
609753 Celiac Disease, Susceptibility to, 4; CELIAC4
607202 Celiac Disease, Susceptibility to, 5; CELIAC5
611598 Celiac Disease, Susceptibility to, 6; CELIAC6
612005 Celiac Disease, Susceptibility to, 7; CELIAC7
612006 Celiac Disease, Susceptibility to, 8; CELIAC8
612007 Celiac Disease, Susceptibility to, 9; CELIAC9
212780 Cenani-Lenz Syndactyly Syndrome; CLSS (1 mouse models)
217600 Central Cloudy Dystrophy of Francois; CCDF
117000 Central Core Disease of Muscle (2 mouse models)
209880 Central Hypoventilation Syndrome, Congenital; CCHS (2 mouse models)
302400 Central Incisors, Absence of
117100 Centralopathic Epilepsy
212800 Cephalin Lipidosis
212835 Cerebellar Ataxia and Ectodermal Dysplasia
605672 Cerebellar Ataxia and Hypergonadotropic Hypogonadism
212850 Cerebellar Ataxia and Neurosensory Deafness
601338 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss
212890 Cerebellar Ataxia, Benign, with Thermoanalgesia
601238 Cerebellar Ataxia, Cayman Type; ATCAY (3 mouse models)
604121 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant; ADCADN
212895 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes; EOCA
224050 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1; CAMRQ1
610185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2; CAMRQ2
613227 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3; CAMRQ3
615268 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4; CAMRQ4
614575 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome;
614756 Cerebellar Ataxia, Nonprogressive, with Mental Retardation; CANPMR
602197 Cerebellar Degeneration-Related Autoantigen 3
213000 Cerebellar Hypoplasia
213002 Cerebellar Hypoplasia with Endosteal Sclerosis
213010 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
213100 Cerebelloparenchymal Disorder II; CPD2
213400 Cerebelloparenchymal Disorder V; CPD5
601853 Cerebellotrigeminal Dermal Dysplasia (1 mouse models)
605714 Cerebral Amyloid Angiopathy, App-Related (10 mouse models)
105150 Cerebral Amyloid Angiopathy, Cst3-Related
176500 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 (2 mouse models)
117300 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 (6 mouse models)
213500 Cerebral Angiopathy, Dysphoric
125310 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy; CADASIL (5 mouse models)
600142 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy; CARASIL
603284 Cerebral Cavernous Malformations 2; CCM2 (2 mouse models)
603285 Cerebral Cavernous Malformations 3; CCM3 (3 mouse models)
116860 Cerebral Cavernous Malformations; CCM (3 mouse models)
300864 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
300352 Cerebral Creatine Deficiency Syndrome 1; CCDS1 (2 mouse models)
612736 Cerebral Creatine Deficiency Syndrome 2; CCDS2 (1 mouse models)
612718 Cerebral Creatine Deficiency Syndrome 3; CCDS3
609528 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome
213820 Cerebral Malformation, Seizures, Hypertrichosis, and Overlapping Fingers
605388 Cerebral Palsy, Ataxic, Autosomal Recessive
603513 Cerebral Palsy, Spastic Quadriplegic, 1; CPSQ1
612900 Cerebral Palsy, Spastic Quadriplegic, 2; CPSQ2
117600 Cerebral Sarcoma
302700 Cerebral Sclerosis, Diffuse, Scholz Type
213900 Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease
213950 Cerebrocortical Degeneration of Infancy
117650 Cerebrocostomandibular Syndrome
213980 Cerebrofaciothoracic Dysplasia
608578 Cerebrofrontofacial Syndrome
214150 Cerebrooculofacioskeletal Syndrome 1; COFS1 (1 mouse models)
610756 Cerebrooculofacioskeletal Syndrome 2; COFS2
610758 Cerebrooculofacioskeletal Syndrome 4; COFS4
605627 Cerebrooculonasal Syndrome
609345 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
612199 Cerebroretinal Microangiopathy with Calcifications and Cysts; CRMCC
213700 Cerebrotendinous Xanthomatosis; CTX
610127 Ceroid Lipofuscinosis, Neuronal, 10; CLN10 (1 mouse models)
614706 Ceroid Lipofuscinosis, Neuronal, 11; CLN11
615362 Ceroid Lipofuscinosis, Neuronal, 13; CLN13
256730 Ceroid Lipofuscinosis, Neuronal, 1; CLN1 (1 mouse models)
204500 Ceroid Lipofuscinosis, Neuronal, 2; CLN2 (4 mouse models)
204200 Ceroid Lipofuscinosis, Neuronal, 3; CLN3 (10 mouse models)
204300 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive; CLN4A
162350 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant; CLN4B
256731 Ceroid Lipofuscinosis, Neuronal, 5; CLN5 (1 mouse models)
601780 Ceroid Lipofuscinosis, Neuronal, 6; CLN6 (1 mouse models)
610951 Ceroid Lipofuscinosis, Neuronal, 7; CLN7
600143 Ceroid Lipofuscinosis, Neuronal, 8; CLN8 (4 mouse models)
610003 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
609055 Ceroid Lipofuscinosis, Neuronal, 9; CLN9
214200 Ceroid Storage Disease
603956 Cervical Cancer
117850 Cervical Hypertrichosis with Underlying Kyphoscoliosis
117900 Cervical Rib
601389 Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction
214290 Cervical Vertebrae, Agenesis of
118000 Cervical Vertebral Bridge
118005 Cervical Vertebral Dysplasia
614809 Cfhr5 Deficiency
275630 Chanarin-Dorfman Syndrome; CDS (1 mouse models)
214350 CHANDS
118300 Charcot-Marie-Tooth Disease and Deafness (1 mouse models)
118210 Charcot-Marie-Tooth Disease, Axonal, Type 2a1; CMT2A1 (1 mouse models)
609260 Charcot-Marie-Tooth Disease, Axonal, Type 2A2; CMT2A2 (3 mouse models)
605588 Charcot-Marie-Tooth Disease, Axonal, Type 2B1; CMT2B1 (1 mouse models)
605589 Charcot-Marie-Tooth Disease, Axonal, Type 2B2; CMT2B2
600882 Charcot-Marie-Tooth Disease, Axonal, Type 2B; CMT2B
601472 Charcot-Marie-Tooth Disease, Axonal, Type 2D; CMT2D (3 mouse models)
607684 Charcot-Marie-Tooth Disease, Axonal, Type 2E; CMT2E (2 mouse models)
606595 Charcot-Marie-Tooth Disease, Axonal, Type 2F; CMT2F (1 mouse models)
608591 Charcot-Marie-Tooth Disease, Axonal, Type 2G; CMT2G
607731 Charcot-Marie-Tooth Disease, Axonal, Type 2H; CMT2H
607677 Charcot-Marie-Tooth Disease, Axonal, Type 2I; CMT2I
607736 Charcot-Marie-Tooth Disease, Axonal, Type 2J; CMT2J
607831 Charcot-Marie-Tooth Disease, Axonal, Type 2K; CMT2K
608673 Charcot-Marie-Tooth Disease, Axonal, Type 2L; CMT2L
613287 Charcot-Marie-Tooth Disease, Axonal, Type 2n; CMT2N
614228 Charcot-Marie-Tooth Disease, Axonal, Type 2o; CMT2O
614436 Charcot-Marie-Tooth Disease, Axonal, Type 2p; CMT2P (1 mouse models)
615025 Charcot-Marie-Tooth Disease, Axonal, Type 2q; CMT2Q
615490 Charcot-Marie-Tooth Disease, Axonal, Type 2r; CMT2R
607706 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive
118220 Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A (6 mouse models)
118200 Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; CMT1B (2 mouse models)
601098 Charcot-Marie-Tooth Disease, Demyelinating, Type 1C; CMT1C (1 mouse models)
607678 Charcot-Marie-Tooth Disease, Demyelinating, Type 1D; CMT1D
607734 Charcot-Marie-Tooth Disease, Demyelinating, Type 1F; CMT1F
614895 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f; CMT4F
606483 Charcot-Marie-Tooth Disease, Dominant Intermediate A; CMTDIA
606482 Charcot-Marie-Tooth Disease, Dominant Intermediate B; CMTDIB
608323 Charcot-Marie-Tooth Disease, Dominant Intermediate C; CMTDIC
607791 Charcot-Marie-Tooth Disease, Dominant Intermediate D; CMTDID
614455 Charcot-Marie-Tooth Disease, Dominant Intermediate E; CMTDIE
615185 Charcot-Marie-Tooth Disease, Dominant Intermediate F; CMTDIF
118230 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
608340 Charcot-Marie-Tooth Disease, Recessive Intermediate A; CMTRIA
613641 Charcot-Marie-Tooth Disease, Recessive Intermediate B; CMTRIB
615376 Charcot-Marie-Tooth Disease, Recessive Intermediate C; CMTRIC
214400 Charcot-Marie-Tooth Disease, Type 4A; CMT4A
601382 Charcot-Marie-Tooth Disease, Type 4b1; CMT4B1 (2 mouse models)
604563 Charcot-Marie-Tooth Disease, Type 4b2; CMT4B2 (2 mouse models)
615284 Charcot-Marie-Tooth Disease, Type 4b3; CMT4B3
601596 Charcot-Marie-Tooth Disease, Type 4c; CMT4C (1 mouse models)
601455 Charcot-Marie-Tooth Disease, Type 4D; CMT4D (1 mouse models)
609311 Charcot-Marie-Tooth Disease, Type 4h; CMT4H (1 mouse models)
611228 Charcot-Marie-Tooth Disease, Type 4j; CMT4J (2 mouse models)
118301 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism
302800 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1; CMTX1 (4 mouse models)
300905 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6; CMTX6
302801 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2; CMTX2
302802 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3
311070 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5; CMTX5
302900 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
302803 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita
214800 CHARGE Syndrome (5 mouse models)
169100 Char Syndrome (1 mouse models)
604373 Checkpoint Kinase 2, S. Pombe, Homolog Of; CHEK2
214500 Chediak-Higashi Syndrome; CHS (8 mouse models)
118330 Cheilitis Glandularis
118350 Chemodectoma, Intraabdominal, with Cutaneous Angiolipomas
158105 Chemokine, Cc Motif, Ligand 2; CCL2
118400 Cherubism (1 mouse models)
118420 Chiari Malformation Type I
207950 Chiari Malformation Type II
610448 Chilblain Lupus 1; CHBL1
614415 Chilblain Lupus 2; CHBL2
614122 Chitotriosidase Deficiency; CHITD
515000 Chloramphenicol Toxicity
118430 Chlorpropamide-Alcohol Flushing; CPAF
613611 Choanal Atresia and Lymphedema
608911 Choanal Atresia, Posterior; PCA
615619 Cholangiocarcinoma, Susceptibility to
613806 Cholangitis, Primary Sclerosing; PSC
243300 Cholestasis, Benign Recurrent Intrahepatic, 1; BRIC1
605479 Cholestasis, Benign Recurrent Intrahepatic, 2; BRIC2
147480 Cholestasis, Intrahepatic, of Pregnancy, 1; ICP1
614972 Cholestasis, Intrahepatic, of Pregnancy 3; ICP3
214900 Cholestasis-Lymphedema Syndrome
211600 Cholestasis, Progressive Familial Intrahepatic, 1; PFIC1
601847 Cholestasis, Progressive Familial Intrahepatic, 2; PFIC2
602347 Cholestasis, Progressive Familial Intrahepatic, 3; PFIC3
214980 Cholestasis with Gallstone, Ataxia, and Visual Disturbance
604183 Cholesteatoma, Congenital
215030 Cholesterol Pneumonia
600668 Chondrocalcinosis 1; CCAL1
118600 Chondrocalcinosis 2; CCAL2
118610 Chondrocalcinosis Due to Apatite Crystal Deposition
609441 Chondrodysplasia, Acromesomelic, with Genital Anomalies
215045 Chondrodysplasia, Blomstrand Type; BOCD
215050 Chondrodysplasia Calcificans Metaphysealis
200700 Chondrodysplasia, Grebe Type (1 mouse models)
601376 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density
613320 Chondrodysplasia, Megarbane-Dagher-Melki Type
600092 Chondrodysplasia-Pseudohermaphroditism Syndrome
302950 Chondrodysplasia Punctata 1, X-Linked Recessive; CDPX1
302960 Chondrodysplasia Punctata 2, X-Linked Dominant; CDPX2 (2 mouse models)
118650 Chondrodysplasia Punctata, Autosomal Dominant
602497 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal
215105 Chondrodysplasia Punctata Syndrome
118651 Chondrodysplasia Punctata, Tibia-Metacarpal Type
614078 Chondrodysplasia with Joint Dislocations, Gpapp Type
300863 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia
215250 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
118670 Chondronectin
215300 Chondrosarcoma
612237 Chondrosarcoma, Extraskeletal Myxoid
215400 Chordoma, Susceptibility To; CHDM
215450 Chorea, Benign Familial
118700 Chorea, Benign Hereditary; BHC
601372 Chorea, Remitting, with Nystagmus and Cataract
200150 Choreoacanthocytosis; CHAC (1 mouse models)
118750 Choreoathetosis, Familial Inverted
610978 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress
600790 Chorioretinal Atrophy, Progressive Bifocal
215500 Choroidal Dystrophy, Central Areolar 1; CACD1
613105 Choroidal Dystrophy, Central Areolar 2; CACD2
613144 Choroidal Dystrophy, Central Areolar 3; CACD3
118865 Choroidal Osteoma, Bilateral
303100 Choroideremia; CHM (4 mouse models)
303110 Choroideremia, Deafness, and Mental Retardation
215480 Choroid Plexus Calcification and Mental Retardation
215510 Chromosomal Instability with Tissue-Specific Radiosensitivity
612242 Chromosome 10q23 Deletion Syndrome (1 mouse models)
609625 Chromosome 10q26 Deletion Syndrome
613884 Chromosome 13q14 Deletion Syndrome
613457 Chromosome 14q11-Q22 Deletion Syndrome
615656 Chromosome 15q11.2 Deletion Syndrome
608636 Chromosome 15q11-Q13 Duplication Syndrome (2 mouse models)
612001 Chromosome 15q13.3 Deletion Syndrome
613406 Chromosome 15q24 Deletion Syndrome
614294 Chromosome 15q25 Deletion Syndrome
612626 Chromosome 15q26-Qter Deletion Syndrome
613444 Chromosome 16p11.2 Deletion Syndrome, 220-Kb
611913 Chromosome 16p11.2 Deletion Syndrome, 593-Kb
614671 Chromosome 16p11.2 Duplication Syndrome
136570 Chromosome 16p12.1 Deletion Syndrome, 520-Kb
613604 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb
610543 Chromosome 16p13.3 Deletion Syndrome, Proximal
613458 Chromosome 16p13.3 Duplication Syndrome
614541 Chromosome 16q22 Deletion Syndrome
613776 Chromosome 17p13.1 Deletion Syndrome
613215 Chromosome 17p13.3, Centromeric, Duplication Syndrome
612576 Chromosome 17p13.3, Telomeric, Duplication Syndrome
613675 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb
614527 Chromosome 17q12 Deletion Syndrome
614526 Chromosome 17q12 Duplication Syndrome
613533 Chromosome 17q21.31 Duplication Syndrome
613355 Chromosome 17q23.1-Q23.2 Deletion Syndrome
613618 Chromosome 17q23.1-Q23.2 Duplication Syndrome
146390 Chromosome 18p Deletion Syndrome
609334 Chromosome 18 Pericentric Inversion
601808 Chromosome 18q Deletion Syndrome
613638 Chromosome 19p13.13 Deletion Syndrome
613026 Chromosome 19q13.11 Deletion Syndrome
613735 Chromosome 1p32-P31 Deletion Syndrome
607872 Chromosome 1p36 Deletion Syndrome (1 mouse models)
612474 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
612475 Chromosome 1q21.1 Duplication Syndrome
612530 Chromosome 1q41-Q42 Deletion Syndrome
611867 Chromosome 22q11.2 Deletion Syndrome, Distal (2 mouse models)
608363 Chromosome 22q11.2 Duplication Syndrome
615538 Chromosome 22q13 Duplication Syndrome
613564 Chromosome 2p12-P11.2 Deletion Syndrome
612513 Chromosome 2p16.1-P15 Deletion Syndrome
614332 Chromosome 2p16.3 Deletion Syndrome
613681 Chromosome 2q31.1 Duplication Syndrome
612345 Chromosome 2q31.2 Deletion Syndrome
185900 Chromosome 2q35 Duplication Syndrome
613792 Chromosome 3pter-P25 Deletion Syndrome
615433 Chromosome 3q13.31 Deletion Syndrome
609425 Chromosome 3q29 Deletion Syndrome
611936 Chromosome 3q29 Duplication Syndrome
613509 Chromosome 4q21 Deletion Syndrome
613603 Chromosome 4q32.1-Q32.2 Triplication Syndrome
613174 Chromosome 5p13 Duplication Syndrome
615668 Chromosome 5q12 Deletion Syndrome
153550 Chromosome 5q Deletion Syndrome (2 mouse models)
612582 Chromosome 6pter-P24 Deletion Syndrome
613544 Chromosome 6q11-Q14 Deletion Syndrome
612863 Chromosome 6q24-Q25 Deletion Syndrome
613729 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb
613523 Chromosome 8p11 Myeloproliferative Syndrome
600257 Chromosome 8q12.1-Q21.2 Deletion Syndrome
614230 Chromosome 8q21.11 Deletion Syndrome
158170 Chromosome 9p Deletion Syndrome (2 mouse models)
300801 Chromosome Xp11.23-P11.22 Duplication Syndrome
300578 Chromosome Xp11.3 Deletion Syndrome
300679 Chromosome Xp21 Deletion Syndrome
300830 Chromosome Xp22 Deletion Syndrome
300869 Chromosome Xq27.3-Q28 Duplication Syndrome
300815 Chromosome Xq28 Duplication Syndrome
259680 Chronic Recurrent Multifocal Osteomyelitis; CRMO (1 mouse models)
604213 Chudley-Mccullough Syndrome; CMCS
118830 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase
246700 Chylomicron Retention Disease; CMRD (2 mouse models)
603523 Chylothorax, Congenital (2 mouse models)
215518 Ciliary Discoordination Due to Random Ciliary Orientation
612518 Ciliary Dyskinesia, Primary, 10; CILD10
612649 Ciliary Dyskinesia, Primary, 11; CILD11
612650 Ciliary Dyskinesia, Primary, 12; CILD12
613193 Ciliary Dyskinesia, Primary, 13; CILD13
613807 Ciliary Dyskinesia, Primary, 14; CILD14 (2 mouse models)
613808 Ciliary Dyskinesia, Primary, 15; CILD15
614017 Ciliary Dyskinesia, Primary, 16; CILD16
614679 Ciliary Dyskinesia, Primary, 17; CILD17
614874 Ciliary Dyskinesia, Primary, 18; CILD18
614935 Ciliary Dyskinesia, Primary, 19; CILD19
244400 Ciliary Dyskinesia, Primary, 1; CILD1 (32 mouse models)
615067 Ciliary Dyskinesia, Primary, 20; CILD20
615294 Ciliary Dyskinesia, Primary, 21; CILD21
615444 Ciliary Dyskinesia, Primary, 22; CILD22
615451 Ciliary Dyskinesia, Primary, 23; CILD23
615481 Ciliary Dyskinesia, Primary, 24; CILD24
615482 Ciliary Dyskinesia, Primary, 25; CILD25 (1 mouse models)
615500 Ciliary Dyskinesia, Primary, 26; CILD26
615504 Ciliary Dyskinesia, Primary, 27; CILD27
615505 Ciliary Dyskinesia, Primary, 28; CILD28
606763 Ciliary Dyskinesia, Primary, 2; CILD2
608644 Ciliary Dyskinesia, Primary, 3; CILD3 (10 mouse models)
608646 Ciliary Dyskinesia, Primary, 4; CILD4
608647 Ciliary Dyskinesia, Primary, 5; CILD5
610852 Ciliary Dyskinesia, Primary, 6; CILD6
611884 Ciliary Dyskinesia, Primary, 7; CILD7 (7 mouse models)
612274 Ciliary Dyskinesia, Primary, 8; CILD8
612444 Ciliary Dyskinesia, Primary, 9; CILD9
242670 Ciliary Dyskinesia with Defective Radial Spokes
242680 Ciliary Dyskinesia with Excessively Long Cilia
215520 Ciliary Dyskinesia with Transposition of Ciliary Microtubules
607115 CINCA Syndrome; CINCA (2 mouse models)
215550 Circumvallate Placenta Syndrome
118900 Cirrhosis, Familial
215600 Cirrhosis, Familial
215700 Citrullinemia, Classic (6 mouse models)
603471 Citrullinemia, Type II, Adult-Onset; CTLN2
605814 Citrullinemia, Type II, Neonatal-Onset (1 mouse models)
215720 Citrulline Transport Defect
300831 Ck Syndrome
300602 Clark-Baraitser Syndrome
118980 Clavicle, Pseudarthrosis of, Congenital
605040 Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia
119000 Cleft Chin
215800 Cleft Larynx, Posterior
215850 Cleft-Limb-Heart Malformation Syndrome
225060 Cleft Lip/Palate-Ectodermal Dysplasia Syndrome; CLPED1
216100 Cleft Lip/Palate with Abnormal Thumbs and Microcephaly
601165 Cleft Lip/Palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease
155145 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa
600460 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
216300 Cleft Palate, Deafness, and Oligodontia
119540 Cleft Palate, Isolated; CPI (1 mouse models)
609466 Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
303400 Cleft Palate with or without Ankyloglossia, X-Linked; CPX (2 mouse models)
119570 Cleft Soft Palate
119600 Cleidocranial Dysplasia; CCD (6 mouse models)
216330 Cleidocranial Dysplasia, Recessive Form
119650 Cleidorhizomelic Syndrome
129500 Clouston Syndrome
119800 Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF (11 mouse models)
119915 Cluster Headache, Familial
216360 COACH Syndrome
120000 Coarctation of Aorta
300216 Coats Disease
120040 Cochleosaccular Degeneration with Progressive Cataracts
216400 Cockayne Syndrome A; CSA
133540 Cockayne Syndrome B; CSB (3 mouse models)
216411 Cockayne Syndrome, Type III
613630 Cocoon Syndrome (3 mouse models)
600373 CODAS Syndrome
607426 Coenzyme Q10 Deficiency, Primary, 1; COQ10D1 (1 mouse models)
614651 Coenzyme Q10 Deficiency, Primary, 2; COQ10D2
614652 Coenzyme Q10 Deficiency, Primary, 3; COQ10D3
612016 Coenzyme Q10 Deficiency, Primary, 4; COQ10D4
614654 Coenzyme Q10 Deficiency, Primary, 5; COQ10D5 (1 mouse models)
614650 Coenzyme Q10 Deficiency, Primary, 6; COQ10D6
303600 Coffin-Lowry Syndrome; CLS (4 mouse models)
135900 Coffin-Siris Syndrome; CSS
300082 Cognitive Function 1, Social; CGF1
614306 Cognitive Impairment with or without Cerebellar Ataxia; CIAT
216550 Cohen Syndrome; COH1
120080 Colchicine Resistance
272430 Cold-Induced Sweating Syndrome 1; CISS1
610313 Cold-Induced Sweating Syndrome 2; CISS2
615522 Cole Disease; COLED
115250 Collagenoma, Familial Cutaneous
216700 Collagenosis, Familial Reactive Perforating; RPC
120150 Collagen, Type I, Alpha-1; COL1A1
120140 Collagen, Type II, Alpha-1; COL2A1
609363 Colloid Cysts of Third Ventricle
280000 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome; CHIME
601794 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
120200 Coloboma, Ocular
216820 Coloboma, Ocular
120433 Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation
120300 Coloboma of Macula
216800 Coloboma of Macula and Skeletal Anomalies
120400 Coloboma of Macula with Type B Brachydactyly
120430 Coloboma of Optic Nerve
303650 Colonic Atresia
120440 Colonic Varices without Portal Hypertension
303800 Colorblindness, Partial, Deutan Series; CBD
303900 Colorblindness, Partial, Protan Series; CBP
114500 Colorectal Cancer; CRC (8 mouse models)
609310 Colorectal Cancer, Hereditary Nonpolyposis, Type 2; HNPCC2 (2 mouse models)
614337 Colorectal Cancer, Hereditary Nonpolyposis, Type 4; HNPCC4
614350 Colorectal Cancer, Hereditary Nonpolyposis, Type 5; HNPCC5
614331 Colorectal Cancer, Hereditary Nonpolyposis, Type 6; HNPCC6
614385 Colorectal Cancer, Hereditary Nonpolyposis, Type 7; HNPCC7
613244 Colorectal Cancer, Hereditary Nonpolyposis, Type 8; HNPCC8
612591 Colorectal Cancer, Susceptibility to, 10; CRCS10
612592 Colorectal Cancer, Susceptibility to, 11; CRCS11
615083 Colorectal Cancer, Susceptibility to, 12; CRCS12
608812 Colorectal Cancer, Susceptibility to, 1; CRCS1
611469 Colorectal Cancer, Susceptibility to, 2; CRCS2
612229 Colorectal Cancer, Susceptibility to, 3; CRCS3
612230 Colorectal Cancer, Susceptibility to, 5; CRCS5
612231 Colorectal Cancer, Susceptibility to, 6; CRCS6
612232 Colorectal Cancer, Susceptibility to, 7; CRCS7
612589 Colorectal Cancer, Susceptibility to, 8; CRCS8
612590 Colorectal Cancer, Susceptibility to, 9; CRCS9
233650 Combined Cellular and Humoral Immune Defects with Granulomas; CCHIDG
615182 Combined D-2- and L-2-Hydroxyglutaric Aciduria; D2L2AD
312863 Combined Immunodeficiency, X-Linked; CIDX
216920 Combined Inflammatory and Immunologic Defect
614265 Combined Malonic and Methylmalonic Aciduria; CMAMMA
614702 Combined Oxidative Phosphorylation Deficiency 10; COXPD10
614922 Combined Oxidative Phosphorylation Deficiency 11; COXPD11
614924 Combined Oxidative Phosphorylation Deficiency 12; COXPD12
614932 Combined Oxidative Phosphorylation Deficiency 13; COXPD13
614946 Combined Oxidative Phosphorylation Deficiency 14; COXPD14
614947 Combined Oxidative Phosphorylation Deficiency 15; COXPD15
615395 Combined Oxidative Phosphorylation Deficiency 16; COXPD16
615440 Combined Oxidative Phosphorylation Deficiency 17; COXPD17
615578 Combined Oxidative Phosphorylation Deficiency 18; COXPD18
615595 Combined Oxidative Phosphorylation Deficiency 19; COXPD19
609060 Combined Oxidative Phosphorylation Deficiency 1; COXPD1
610498 Combined Oxidative Phosphorylation Deficiency 2; COXPD2
610505 Combined Oxidative Phosphorylation Deficiency 3; COXPD3
610678 Combined Oxidative Phosphorylation Deficiency 4; COXPD4
611719 Combined Oxidative Phosphorylation Deficiency 5; COXPD5
300816 Combined Oxidative Phosphorylation Deficiency 6; COXPD6
613559 Combined Oxidative Phosphorylation Deficiency 7; COXPD7
614096 Combined Oxidative Phosphorylation Deficiency 8; COXPD8
614582 Combined Oxidative Phosphorylation Deficiency 9; COXPD9
611721 Combined Saposin Deficiency
120450 Comedones, Familial Dyskeratotic
120500 Commissural Lip Pits
217000 Complement Component 2 Deficiency; C2D
613779 Complement Component 3 Deficiency, Autosomal Recessive; C3D
614380 Complement Component 4a Deficiency; C4AD
614379 Complement Component 4b Deficiency; C4BD
120790 Complement Component 4, Partial Deficiency of
609536 Complement Component 5 Deficiency; C5D
612446 Complement Component 6 Deficiency; C6D
610102 Complement Component 7 Deficiency; C7D
613790 Complement Component 8 Deficiency, Type I; C8D1
613789 Complement Component 8 Deficiency, Type II; C8D2
613825 Complement Component 9 Deficiency; C9D
216950 Complement Component C1r/C1s Deficiency
613783 Complement Component C1s Deficiency; C1SD
615561 Complement Factor B Deficiency; CFBD
613912 Complement Factor D Deficiency; CFDD
609814 Complement Factor H Deficiency; CFHD
610984 Complement Factor I Deficiency; CFID
602093 Cone Dystrophy 3; COD3 (5 mouse models)
613093 Cone Dystrophy 4; COD4
304030 Cone Dystrophy, X-Linked, with Tapetal-Like Sheen
610283 Cone-Rod Dystrophy 10; CORD10
610381 Cone-Rod Dystrophy 11; CORD11
612657 Cone-Rod Dystrophy 12; CORD12
608194 Cone-Rod Dystrophy 13; CORD13
613660 Cone-Rod Dystrophy 15; CORD15
614500 Cone-Rod Dystrophy 16; CORD16
615163 Cone-Rod Dystrophy 17; CORD17
615374 Cone-Rod Dystrophy 18; CORD18
600624 Cone-Rod Dystrophy 1; CORD1
120970 Cone-Rod Dystrophy 2; CORD2
604116 Cone-Rod Dystrophy 3; CORD3 (2 mouse models)
600977 Cone-Rod Dystrophy 5; CORD5
601777 Cone-Rod Dystrophy 6; CORD6 (1 mouse models)
603649 Cone-Rod Dystrophy 7; CORD7
605549 Cone-Rod Dystrophy 8; CORD8
612775 Cone-Rod Dystrophy 9; CORD9
304020 Cone-Rod Dystrophy, X-Linked, 1; CORDX1 (2 mouse models)
300085 Cone-Rod Dystrophy, X-Linked, 2; CORDX2
300476 Cone-Rod Dystrophy, X-Linked, 3; CORDX3
610805 Congenital Anomalies of Kidney and Urinary Tract, Susceptibility To;
604168 Congenital Cataracts, Facial Dysmorphism, and Neuropathy
614482 Congenital Cataracts, Hearing Loss, and Neurodegeneration; CCHLND
608484 Congenital Corneal Opacities, Cornea Guttata, and Corectopia
615273 Congenital Disorder of Deglycosylation; CDDG
212065 Congenital Disorder of Glycosylation, Type IA; CDG1A
602579 Congenital Disorder of Glycosylation, Type IB; CDG1B
603147 Congenital Disorder of Glycosylation, Type Ic; CDG1C
601110 Congenital Disorder of Glycosylation, Type ID; CDG1D
608799 Congenital Disorder of Glycosylation, Type IE; CDG1E
609180 Congenital Disorder of Glycosylation, Type IF; CDG1F
607143 Congenital Disorder of Glycosylation, Type IG; CDG1G
608104 Congenital Disorder of Glycosylation, Type IH; CDG1H
212066 Congenital Disorder of Glycosylation, Type IIA; CDG2A (2 mouse models)
606056 Congenital Disorder of Glycosylation, Type IIB; CDG2B
266265 Congenital Disorder of Glycosylation, Type IIC; CDG2C (1 mouse models)
607906 Congenital Disorder of Glycosylation, Type II; CDG1I
607091 Congenital Disorder of Glycosylation, Type Iid; CDG2D
608779 Congenital Disorder of Glycosylation, Type Iie; CDG2E
603585 Congenital Disorder of Glycosylation, Type Iif; CDG2F
611209 Congenital Disorder of Glycosylation, Type Iig; CDG2G
611182 Congenital Disorder of Glycosylation, Type Iih; CDG2H
613612 Congenital Disorder of Glycosylation, Type III; CDG2I
212067 Congenital Disorder of Glycosylation, Type I/IIX
613489 Congenital Disorder of Glycosylation, Type Iij; CDG2J
614727 Congenital Disorder of Glycosylation, Type Iik; CDG2K
614576 Congenital Disorder of Glycosylation, Type Iil; CDG2L
300896 Congenital Disorder of Glycosylation, Type Iim; CDG2M
608093 Congenital Disorder of Glycosylation, Type IJ; CDG1J
608540 Congenital Disorder of Glycosylation, Type IK; CDG1K
608776 Congenital Disorder of Glycosylation, Type IL: Cdg1l
610768 Congenital Disorder of Glycosylation, Type Im; CDG1M
612015 Congenital Disorder of Glycosylation, Type In; CDG1N
612937 Congenital Disorder of Glycosylation, Type Io; CDG1O
613661 Congenital Disorder of Glycosylation, Type Ip; CDG1P
612379 Congenital Disorder of Glycosylation, Type Iq; CDG1Q
614507 Congenital Disorder of Glycosylation, Type Ir; CDG1R
300884 Congenital Disorder of Glycosylation, Type Is; CDG1S
614921 Congenital Disorder of Glycosylation, Type It; CDG1T
615042 Congenital Disorder of Glycosylation, Type Iu; CDG1U
615596 Congenital Disorder of Glycosylation, Type Iw; CDG1W
615597 Congenital Disorder of Glycosylation, Type IX; CDG1X
217085 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly
614980 Congenital Heart Defects, Multiple Types, 2; CHTD2
614954 Congenital Heart Defects, Multiple Types, 3; CHTD3
308050 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
612918 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
615237 Congenital Short Bowel Syndrome; CSBS
217095 Conotruncal Heart Malformations; CTHM (3 mouse models)
217100 Constricting Bands, Congenital
217150 Contractures, Congenital, Torticollis, and Malignant Hyperthermia
602066 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis;
217200 Convulsive Disorder, Familial, with Prenatal or Early Onset
121270 Copper Deficiency, Familial Benign
121300 Coproporphyria, Hereditary; HCP (1 mouse models)
608158 CoQ-Responsive Oxphos Deficiency
121350 Coracoclavicular Joint, Anomalous
121390 Cornea Guttata with Anterior Polar Cataracts
217520 Corneal Degeneration, Band-Shaped Spheroid
121450 Corneal Degeneration, Ribbonlike, with Deafness
217400 Corneal Dystrophy and Perceptive Deafness; CDPD
607541 Corneal Dystrophy, Avellino Type; CDA
217500 Corneal Dystrophy, Band-Shaped
610048 Corneal Dystrophy, Congenital Stromal; CSCD (1 mouse models)
300779 Corneal Dystrophy, Endothelial, X-Linked; XECD
121820 Corneal Dystrophy, Epithelial Basement Membrane; EBMD
121850 Corneal Dystrophy, Fleck
136800 Corneal Dystrophy, Fuchs Endothelial, 1; FECD1 (1 mouse models)
610158 Corneal Dystrophy, Fuchs Endothelial, 2; FECD2
613267 Corneal Dystrophy, Fuchs Endothelial, 3; FECD3
613268 Corneal Dystrophy, Fuchs Endothelial, 4; FECD4
613269 Corneal Dystrophy, Fuchs Endothelial, 5; FECD5
613270 Corneal Dystrophy, Fuchs Endothelial, 6; FECD6
613271 Corneal Dystrophy, Fuchs Endothelial, 7; FECD7
615523 Corneal Dystrophy, Fuchs Endothelial, 8; FECD8
204870 Corneal Dystrophy, Gelatinous Drop-Like; GDLD
121900 Corneal Dystrophy, Groenouw Type I; CDGG1
608471 Corneal Dystrophy, Lattice Type IIIA; CDL3A
122200 Corneal Dystrophy, Lattice Type I; LCD1
300778 Corneal Dystrophy, Lisch Epithelial; LECD
122100 Corneal Dystrophy, Meesmann; MECD
608470 Corneal Dystrophy of Bowman Layer, Type I; CDB1
602082 Corneal Dystrophy of Bowman Layer, Type II; CDB2
612868 Corneal Dystrophy, Posterior Amorphous; PACD
122000 Corneal Dystrophy, Posterior Polymorphous, 1; PPCD1 (2 mouse models)
609140 Corneal Dystrophy, Posterior Polymorphous, 2; PPCD2
609141 Corneal Dystrophy, Posterior Polymorphous, 3; PPCD3 (2 mouse models)
612867 Corneal Dystrophy, Subepithelial Mucinous; SMCD
121700 Corneal Endothelial Dystrophy 1, Autosomal Dominant; CHED1
217700 Corneal Endothelial Dystrophy 2, Autosomal Recessive; CHED2
122450 Corneal Hypesthesia, Familial
122430 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation
615225 Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia; CIDED
121400 Cornea Plana 1; CNA1
217300 Cornea Plana 2; CNA2 (1 mouse models)
122470 Cornelia De Lange Syndrome 1; CDLS1 (1 mouse models)
300590 Cornelia De Lange Syndrome 2; CDLS2
610759 Cornelia De Lange Syndrome 3; CDLS3
614701 Cornelia De Lange Syndrome 4; CDLS4
300882 Cornelia De Lange Syndrome 5; CDLS5
122440 Corneodermatoosseous Syndrome
608320 Coronary Artery Disease, Autosomal Dominant, 1; ADCAD1
610947 Coronary Artery Disease, Autosomal Dominant 2; ADCAD2
122455 Coronary Artery Dissection, Spontaneous
607339 Coronary Heart Disease, Susceptibility to, 1
608316 Coronary Heart Disease, Susceptibility to, 2
300464 Coronary Heart Disease, Susceptibility to, 3
608318 Coronary Heart Disease, Susceptibility to, 4
608901 Coronary Heart Disease, Susceptibility to, 5
614466 Coronary Heart Disease, Susceptibility to, 6; CHDS6
610938 Coronary Heart Disease, Susceptibility to, 7; CHDS7
611139 Coronary Heart Disease, Susceptibility to, 8; CHDS8
612030 Coronary Heart Disease, Susceptibility to, 9; CHDS9
217990 Corpus Callosum, Agenesis of
300004 Corpus Callosum, Agenesis of, with Abnormal Genitalia
217980 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
300472 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
304100 Corpus Callosum, Partial Agenesis of, X-Linked
218010 Cortical Blindness, Retardation, and Postaxial Polydactyly
604922 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
614039 Cortical Dysplasia, Complex, with Other Brain Malformations 1; CDCBM1
615282 Cortical Dysplasia, Complex, with Other Brain Malformations 2; CDCBM2
615411 Cortical Dysplasia, Complex, with Other Brain Malformations 3; CDCBM3
615412 Cortical Dysplasia, Complex, with Other Brain Malformations 4; CDCBM4
610042 Cortical Dysplasia-Focal Epilepsy Syndrome (1 mouse models)
614115 Cortical Malformations, Occipital; OCCM
611489 Corticosteroid-Binding Globulin Deficiency (2 mouse models)
203400 Corticosterone Methyloxidase Type I Deficiency
610600 Corticosterone Methyloxidase Type II Deficiency
604931 Cortisone Reductase Deficiency 1; CORTRD1
614662 Cortisone Reductase Deficiency 2; CORTRD2 (1 mouse models)
218040 Costello Syndrome (1 mouse models)
122580 Costocoracoid Ligament, Congenitally Short
122700 Coumarin Resistance
260660 Cousin Syndrome
310490 Cowchock Syndrome; COWCK
158350 Cowden Syndrome 1; CWS1 (11 mouse models)
612359 Cowden Syndrome 2; CWS2
615106 Cowden Syndrome 3; CWS3
615107 Cowden Syndrome 4; CWS4
615108 Cowden Syndrome 5; CWS5
615109 Cowden Syndrome 6; CWS6
122750 Coxa Vara
122780 Coxoauricular Syndrome
120050 Coxsackievirus B3 Susceptibility; CXB3S
218050 Cramps, Familial Adolescent
218090 Crane-Heise Syndrome
218100 Cranial Nerves, Congenital Paresis of
218200 Cranial Nerves, Recurrent Paresis of
122850 Cranioacrofacial Syndrome
122860 Craniodiaphyseal Dysplasia, Autosomal Dominant; CDD
218300 Craniodiaphyseal Dysplasia; CDD
218330 Cranioectodermal Dysplasia 1; CED1
613610 Cranioectodermal Dysplasia 2; CED2
614099 Cranioectodermal Dysplasia 3; CED3
614378 Cranioectodermal Dysplasia 4; CED4
608227 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
614195 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome; CAASDS
122880 Craniofacial-Deafness-Hand Syndrome; CDHS
614132 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome; CFSMR
122900 Craniofacial Dysostosis with Diaphyseal Hyperplasia
218350 Craniofacial Dyssynostosis with Short Stature
601707 Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development
114620 Craniofaciofrontodigital Syndrome
300712 Craniofacioskeletal Syndrome
304110 Craniofrontonasal Syndrome; CFNS (1 mouse models)
607812 Craniolenticulosutural Dysplasia; CLSD
615118 Craniometadiaphyseal Dysplasia; CRMDD
123000 Craniometaphyseal Dysplasia, Autosomal Dominant; CMDD (1 mouse models)
218400 Craniometaphyseal Dysplasia, Autosomal Recessive; CMDR
602558 Craniomicromelic Syndrome
123050 Craniorhiny
218450 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis
123100 Craniosynostosis 1; CRS1
604757 Craniosynostosis 2; CRS2 (3 mouse models)
615314 Craniosynostosis 3; CRS3
600775 Craniosynostosis 4; CRS4
615529 Craniosynostosis 5, Susceptibility To; CRS5
600593 Craniosynostosis, Adelaide Type; CRSA
614188 Craniosynostosis and Dental Anomalies; CRSDA
608432 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
218650 Craniosynostosis-Mental Retardation-Clefting Syndrome
218649 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
606529 Craniosynostosis Syndrome, Autosomal Recessive
218530 Craniosynostosis with Anomalies of the Cranial Base and Digits
603595 Craniosynostosis with Ectopia Lentis
218550 Craniosynostosis with Fibular Aplasia
608279 Craniosynostosis with Ocular Abnormalities and Hallucal Defects
218670 Craniotelencephalic Dysplasia
602472 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age
123320 Creatine Phosphokinase, Elevated Serum
606851 Cree Mental Retardation Syndrome
123400 Creutzfeldt-Jakob Disease; CJD (8 mouse models)
123450 Cri-Du-Chat Syndrome
218800 Crigler-Najjar Syndrome, Type I (2 mouse models)
606785 Crigler-Najjar Syndrome, Type II
218900 Crome Syndrome
123500 Crouzon Syndrome (5 mouse models)
612247 Crouzon Syndrome with Acanthosis Nigricans; CAN
605945 Crumpled Helices and Small Mouth
123540 Cryofibrinogenemia, Familial Primary
123550 Cryoglobulinemia, Familial Mixed
608885 Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
123560 Cryptomicrotia-Brachydactyly Syndrome
123570 Cryptophthalmos, Unilateral or Bilateral, Isolated
219050 Cryptorchidism, Unilateral or Bilateral (5 mouse models)
123557 Cryptotia, Familial
211750 C Syndrome
300471 Cubitus Valgus with Mental Retardation and Unusual Facies
607656 Curly Hair-Acral Keratoderma-Caries Syndrome
176450 Currarino Syndrome
219070 Curved Nail of Fourth Toe
248910 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia
219095 Cutaneous Photosensitivity and Colitis, Lethal
614564 Cutaneous Telangiectasia and Cancer Syndrome, Familial; FCTCS
123700 Cutis Laxa, Autosomal Dominant 1; ADCL1 (2 mouse models)
614434 Cutis Laxa, Autosomal Dominant 2; ADCL2
219100 Cutis Laxa, Autosomal Recessive, Type IA; ARCL1A (2 mouse models)
614437 Cutis Laxa, Autosomal Recessive, Type IB; ARCL1B
613177 Cutis Laxa, Autosomal Recessive, Type Ic; ARCL1C
219200 Cutis Laxa, Autosomal Recessive, Type IIA; ARCL2A
612940 Cutis Laxa, Autosomal Recessive, Type IIB; ARCL2B
219150 Cutis Laxa, Autosomal Recessive, Type IIIA; ARCL3A
614438 Cutis Laxa, Autosomal Recessive, Type IIIB; ARCL3B
614100 Cutis Laxa, Neonatal, with Marfanoid Phenotype
219250 Cutis Marmorata Telangiectatica Congenita; CMTC
219300 Cutis Verticis Gyrata and Mental Retardation; CVG/MR
605685 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
304200 Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation
304300 Cyanide, Inability to Smell
219400 Cyanosis and Hepatic Disease
613977 Cyanosis, Transient Neonatal; TNCY
162800 Cyclic Neutropenia
500007 Cyclic Vomiting Syndrome; CVS
132700 Cylindromatosis, Familial
123853 Cyprus Facial Neuromusculoskeletal Syndrome
219500 Cystathioninuria (1 mouse models)
219550 Cysteine Peptiduria
123880 Cystic Angiomatosis of Bone, Diffuse
219600 Cystic Disease of Lung
219700 Cystic Fibrosis; CF (19 mouse models)
603855 Cystic Fibrosis, Modifier of, 1; CFM1
219721 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation
219750 Cystinosis, Adult Nonnephropathic
219900 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
219800 Cystinosis, Nephropathic; CTNS (1 mouse models)
220100 Cystinuria (4 mouse models)
608508 Cytochrome B(-245), Alpha Subunit; CYBA
122720 Cytochrome P450, Subfamily IIA, Polypeptide 6; CYP2A6
601129 Cytochrome P450, Subfamily IIC, Polypeptide 8; CYP2C8
124060 Cytochrome P450, Subfamily I, Polypeptide 2; CYP1A2
123890 Cytotoxic T Lymphocyte-Associated 4; CTLA4
609162 Czech Dysplasia

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory