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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
OMIM:613652 C1q Deficiency 1; C1QD1
OMIM:620321 C1q Deficiency 2; C1QD2
OMIM:620322 C1q Deficiency 3; C1QD3
OMIM:614809 C3 Glomerulopathy 3; C3G3
OMIM:114030 Cafe-Au-Lait Spots, Multiple
OMIM:114000 Caffey Disease; CAFYD
OMIM:211770 Cahmr Syndrome
OMIM:114065 Calcific Aortic Disease with Immunologic Abnormalities, Familial
OMIM:211800 Calcification of Joints and Arteries; CALJA
OMIM:114140 Callosities, Hereditary Painful
OMIM:126550 Calvarial Doughnut Lesions with Bone Fragility; CDL
OMIM:302030 Calvarial Hyperostosis
OMIM:604257 Camera-Marugo-Cohen Syndrome
OMIM:211890 Campomelia, Cumming Type
OMIM:114290 Campomelic Dysplasia; CMPD
OMIM:114150 Camptobrachydactyly
OMIM:114200 Camptodactyly 1; CAMPD1
OMIM:208250 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome; CACP
OMIM:211965 Camptodactyly-Ichthyosis Syndrome
OMIM:602612 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye
OMIM:211910 Camptodactyly Syndrome, Guadalajara, Type I; GCS1
OMIM:211920 Camptodactyly Syndrome, Guadalajara, Type II
OMIM:611929 Camptodactyly Syndrome, Guadalajara, Type III
OMIM:610474 Camptodactyly, Tall Stature, and Hearing Loss Syndrome; CATSHLS
OMIM:211930 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia
OMIM:211960 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases
OMIM:211990 Camptomelic Syndrome, Long-Limb Type
OMIM:607539 Camptosynpolydactyly, Complex; CCSPD
OMIM:131300 Camurati-Engelmann Disease; CAEND
OMIM:606631 Camurati-Engelmann Disease, Type 2
OMIM:271900 Canavan Disease
OMIM:618373 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma; CAPOK
OMIM:114450 Cancer, Familial, with in Vitro Radioresistance
OMIM:114580 Candidiasis, Familial, 1; CANDF1
OMIM:607644 Candidiasis, Familial, 3; CANDF3
OMIM:613108 Candidiasis, Familial, 4; CANDF4
OMIM:613956 Candidiasis, Familial, 6; CANDF6
OMIM:615527 Candidiasis, Familial, 8; CANDF8
OMIM:616445 Candidiasis, Familial, 9; CANDF9
OMIM:114600 Canine Teeth, Absence of Upper Permanent
OMIM:239850 Cantu Syndrome
OMIM:608354 Capillary Malformation-Arteriovenous Malformation 1; CMAVM1
OMIM:618196 Capillary Malformation-Arteriovenous Malformation 2; CMAVM2
OMIM:613089 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth
OMIM:163000 Capillary Malformations, Congenital; CMC
OMIM:114700 Carabelli Anomaly of Maxillary Molar Teeth
OMIM:237300 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to
OMIM:212060 Carbimazole Sensitivity
OMIM:615751 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To; CA5AD
OMIM:212070 Carboxypeptidase N Deficiency; CPND
OMIM:114900 Carcinoid Tumors, Intestinal
OMIM:600919 Cardiac Arrhythmia, Ankyrin-B-Related
OMIM:615441 Cardiac Arrhythmia Syndrome, with or without Skeletal Muscle Weakness; CARDAR
OMIM:115080 Cardiac Conduction Defect
OMIM:616117 Cardiac Conduction Disease with or without Dilated Cardiomyopathy;
OMIM:618164 Cardiac, Facial, and Digital Anomalies with Developmental Delay;
OMIM:212080 Cardiac Lipidosis, Familial
OMIM:212090 Cardiac Septal Defects with Coarctation of the Aorta
OMIM:618280 Cardiac-Urogenital Syndrome; CUGS
OMIM:212093 Cardiac Valvular Dysplasia 1; CVDP1
OMIM:620067 Cardiac Valvular Dysplasia 2; CVDP2
OMIM:314400 Cardiac Valvular Dysplasia, X-Linked; CVDPX
OMIM:619142 Cardioacrofacial Dysplasia 1; CAFD1
OMIM:619143 Cardioacrofacial Dysplasia 2; CAFD2
OMIM:212100 Cardioauditory Syndrome of Sanchez Cascos
OMIM:115150 Cardiofaciocutaneous Syndrome 1; CFC1
OMIM:615278 Cardiofaciocutaneous Syndrome 2; CFC2
OMIM:615279 Cardiofaciocutaneous Syndrome 3; CFC3
OMIM:615280 Cardiofaciocutaneous Syndrome 4; CFC4
OMIM:619123 Cardiofacioneurodevelopmental Syndrome; CFNDS
OMIM:212130 Cardiomyopathy Associated with Myopathy and Sudden Death
OMIM:612158 Cardiomyopathy, Dilated, 1aa, with or without Left Ventricular Noncompaction;
OMIM:115200 Cardiomyopathy, Dilated, 1A; CMD1A
OMIM:612877 Cardiomyopathy, Dilated, 1bb; CMD1BB
OMIM:600884 Cardiomyopathy, Dilated, 1B; CMD1B
OMIM:613122 Cardiomyopathy, Dilated, 1cc; CMD1CC
OMIM:601493 Cardiomyopathy, Dilated, 1c, with or without Left Ventricular Noncompaction; CMD1C
OMIM:601494 Cardiomyopathy, Dilated, 1D; CMD1D
OMIM:613172 Cardiomyopathy, Dilated, 1dd; CMD1DD
OMIM:601154 Cardiomyopathy, Dilated, 1E; CMD1E
OMIM:613252 Cardiomyopathy, Dilated, 1ee; CMD1EE
OMIM:613286 Cardiomyopathy, Dilated, 1ff; CMD1FF
OMIM:604145 Cardiomyopathy, Dilated, 1G; CMD1G
OMIM:613642 Cardiomyopathy, Dilated, 1gg; CMD1GG
OMIM:604288 Cardiomyopathy, Dilated, 1H; CMD1H
OMIM:613881 Cardiomyopathy, Dilated, 1hh; CMD1HH
OMIM:604765 Cardiomyopathy, Dilated, 1I; CMD1I
OMIM:615184 Cardiomyopathy, Dilated, 1ii; CMD1II
OMIM:605362 Cardiomyopathy, Dilated, 1J; CMD1J
OMIM:615235 Cardiomyopathy, Dilated, 1jj; CMD1JJ
OMIM:605582 Cardiomyopathy, Dilated, 1K; CMD1K
OMIM:615248 Cardiomyopathy, Dilated, 1kk; CMD1KK
OMIM:606685 Cardiomyopathy, Dilated, 1L; CMD1L
OMIM:607482 Cardiomyopathy, Dilated, 1M; CMD1M
OMIM:615916 Cardiomyopathy, Dilated, 1nn; CMD1NN
OMIM:608569 Cardiomyopathy, Dilated, 1O; CMD1O
OMIM:620247 Cardiomyopathy, Dilated, 1oo; CMD1OO
OMIM:609909 Cardiomyopathy, Dilated, 1p; CMD1P
OMIM:609915 Cardiomyopathy, Dilated, 1q; CMD1Q
OMIM:613424 Cardiomyopathy, Dilated, 1r; CMD1R
OMIM:613426 Cardiomyopathy, Dilated, 1s; CMD1S
OMIM:613694 Cardiomyopathy, Dilated, 1u; CMD1U
OMIM:613697 Cardiomyopathy, Dilated, 1v; CMD1V
OMIM:611407 Cardiomyopathy, Dilated, 1w; CMD1W
OMIM:611615 Cardiomyopathy, Dilated, 1x; CMD1X
OMIM:611878 Cardiomyopathy, Dilated, 1y; CMD1Y
OMIM:611879 Cardiomyopathy, Dilated, 1z; CMD1Z
OMIM:611880 Cardiomyopathy, Dilated, 2A; CMD2A
OMIM:614672 Cardiomyopathy, Dilated, 2B; CMD2B
OMIM:618189 Cardiomyopathy, Dilated, 2c; CMD2C
OMIM:619371 Cardiomyopathy, Dilated, 2D; CMD2D
OMIM:619492 Cardiomyopathy, Dilated, 2E; CMD2E
OMIM:619747 Cardiomyopathy, Dilated, 2F; CMD2F
OMIM:619897 Cardiomyopathy, Dilated, 2G; CMD2G
OMIM:620203 Cardiomyopathy, Dilated, 2H; CMD2H
OMIM:620462 Cardiomyopathy, Dilated, 2I; CMD2I
OMIM:620635 Cardiomyopathy, Dilated, 2J; CMD2J
OMIM:620894 Cardiomyopathy, Dilated, 2K; CMD2K
OMIM:302045 Cardiomyopathy, Dilated, 3b; CMD3B
OMIM:212112 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism
OMIM:605676 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma; DCWHK
OMIM:615821 Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis; DCWHKTA
OMIM:608758 Cardiomyopathy, Familial Hypertrophic, 10; CMH10
OMIM:612098 Cardiomyopathy, Familial Hypertrophic, 11; CMH11
OMIM:612124 Cardiomyopathy, Familial Hypertrophic, 12; CMH12
OMIM:613243 Cardiomyopathy, Familial Hypertrophic, 13; CMH13
OMIM:613251 Cardiomyopathy, Familial Hypertrophic, 14; CMH14
OMIM:613255 Cardiomyopathy, Familial Hypertrophic, 15; CMH15
OMIM:613838 Cardiomyopathy, Familial Hypertrophic, 16; CMH16
OMIM:613873 Cardiomyopathy, Familial Hypertrophic, 17; CMH17
OMIM:613874 Cardiomyopathy, Familial Hypertrophic, 18; CMH18
OMIM:192600 Cardiomyopathy, Familial Hypertrophic, 1; CMH1
OMIM:613876 Cardiomyopathy, Familial Hypertrophic, 20; CMH20
OMIM:614676 Cardiomyopathy, Familial Hypertrophic, 21; CMH21
OMIM:607487 Cardiomyopathy, Familial Hypertrophic, 25; CMH25
OMIM:617047 Cardiomyopathy, Familial Hypertrophic, 26; CMH26
OMIM:618052 Cardiomyopathy, Familial Hypertrophic, 27; CMH27
OMIM:619402 Cardiomyopathy, Familial Hypertrophic, 28; CMH28
OMIM:620236 Cardiomyopathy, Familial Hypertrophic, 29, with Polyglucosan Bodies;
OMIM:115195 Cardiomyopathy, Familial Hypertrophic, 2; CMH2
OMIM:620734 Cardiomyopathy, Familial Hypertrophic, 30, Atrial; CMH30
OMIM:115196 Cardiomyopathy, Familial Hypertrophic, 3; CMH3
OMIM:115197 Cardiomyopathy, Familial Hypertrophic, 4; CMH4
OMIM:600858 Cardiomyopathy, Familial Hypertrophic, 6; CMH6
OMIM:613690 Cardiomyopathy, Familial Hypertrophic, 7; CMH7
OMIM:608751 Cardiomyopathy, Familial Hypertrophic, 8; CMH8
OMIM:613765 Cardiomyopathy, Familial Hypertrophic, 9; CMH9
OMIM:115210 Cardiomyopathy, Familial Restrictive, 1; RCM1
OMIM:609578 Cardiomyopathy, Familial Restrictive, 2; RCM2
OMIM:612422 Cardiomyopathy, Familial Restrictive, 3; RCM3
OMIM:619433 Cardiomyopathy, Familial Restrictive, 6; RCM6
OMIM:300829 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification
OMIM:500000 Cardiomyopathy, Infantile Histiocytoid
OMIM:500006 Cardiomyopathy, Infantile Hypertrophic
OMIM:606842 Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
OMIM:212135 Cardioskeletal Syndrome, Kuwaiti Type
OMIM:157800 Cardiospondylocarpofacial Syndrome; CSCF
OMIM:254940 Carey-Fineman-Ziter Syndrome 1; CFZS1
OMIM:619941 Carey-Fineman-Ziter Syndrome 2; CFZS2
OMIM:114650 Car Factor Deficiency
OMIM:160980 Carney Complex, Type 1; CNC1
OMIM:605244 Carney Complex, Type 2; CNC2
OMIM:608837 Carney Complex Variant
OMIM:604287 Carney Triad
OMIM:606175 Carnitine Acetyltransferase Deficiency
OMIM:212138 Carnitine-Acylcarnitine Translocase Deficiency; CACTD
OMIM:212160 Carnitine Deficiency, Myopathic
OMIM:212140 Carnitine Deficiency, Systemic Primary; CDSP
OMIM:255120 Carnitine Palmitoyltransferase I Deficiency
OMIM:600649 Carnitine Palmitoyltransferase II Deficiency, Infantile
OMIM:608836 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
OMIM:255110 Carnitine Palmitoyltransferase II Deficiency, Myopathic, Stress-Induced
OMIM:212200 Carnosinemia
OMIM:600643 Caroli Disease, Isolated
OMIM:604172 Caronte
OMIM:115400 Carpal Displacement
OMIM:115430 Carpal Tunnel Syndrome 1; CTS1
OMIM:619161 Carpal Tunnel Syndrome 2; CTS2
OMIM:201000 Carpenter Syndrome 1; CRPT1
OMIM:614976 Carpenter Syndrome 2; CRPT2
OMIM:250250 Cartilage-Hair Hypoplasia; CHH
OMIM:607271 CASPase 8 Deficiency
OMIM:600881 Cataract 10, Multiple Types; CTRCT10
OMIM:610623 Cataract 11, Multiple Types; CTRCT11
OMIM:611597 Cataract 12, Multiple Types; CTRCT12
OMIM:116700 Cataract 13 with Adult I Phenotype; CTRCT13
OMIM:601885 Cataract 14, Multiple Types; CTRCT14
OMIM:615274 Cataract 15, Multiple Types; CTRCT15
OMIM:613763 Cataract 16, Multiple Types; CTRCT16
OMIM:611544 Cataract 17, Multiple Types; CTRCT17
OMIM:610019 Cataract 18; CTRCT18
OMIM:615277 Cataract 19, Multiple Types; CTRCT19
OMIM:116200 Cataract 1, Multiple Types; CTRCT1
OMIM:116100 Cataract 20, Multiple Types; CTRCT20
OMIM:610202 Cataract 21, Multiple Types; CTRCT21
OMIM:609741 Cataract 22, Multiple Types; CTRCT22
OMIM:610425 Cataract 23, Multiple Types; CTRCT23
OMIM:601202 Cataract 24; CTRCT24
OMIM:605728 Cataract 25; CTRCT25
OMIM:605749 Cataract 26, Multiple Types; CTRCT26
OMIM:607304 Cataract 27; CTRCT27
OMIM:609026 Cataract 28; CTRCT28
OMIM:115800 Cataract 29; CTRCT29
OMIM:604307 Cataract 2, Multiple Types; CTRCT2
OMIM:116300 Cataract 30, Multiple Types; CTRCT30
OMIM:605387 Cataract 31, Multiple Types; CTRCT31
OMIM:115650 Cataract 32, Multiple Types; CTRCT32
OMIM:611391 Cataract 33, Multiple Types; CTRCT33
OMIM:612968 Cataract 34, Multiple Types; CTRCT34
OMIM:609376 Cataract 35; CTRCT35
OMIM:613887 Cataract 36; CTRCT36
OMIM:614422 Cataract 37; CTRCT37
OMIM:614691 Cataract 38; CTRCT38
OMIM:615188 Cataract 39, Multiple Types; CTRCT39
OMIM:601547 Cataract 3, Multiple Types; CTRCT3
OMIM:302200 Cataract 40; CTRCT40
OMIM:116400 Cataract 41; CTRCT41
OMIM:115900 Cataract 42; CTRCT42
OMIM:616279 Cataract 43; CTRCT43
OMIM:616509 Cataract 44; CTRCT44
OMIM:616851 Cataract 45; CTRCT45
OMIM:212500 Cataract 46, Juvenile-Onset, with or without Arrhythmic Cardiomyopathy; CTRCT46
OMIM:612018 Cataract 47; CTRCT47
OMIM:618415 Cataract 48; CTRCT48
OMIM:619593 Cataract 49; CTRCT49
OMIM:115700 Cataract 4, Multiple Types; CTRCT4
OMIM:620253 Cataract 50 with or without Glaucoma; CTRCT50
OMIM:116800 Cataract 5, Multiple Types; CTRCT5
OMIM:116600 Cataract 6, Multiple Types; CTRCT6
OMIM:115660 Cataract 7; CTRCT7
OMIM:115665 Cataract 8, Multiple Types; CTRCT8
OMIM:604219 Cataract 9, Multiple Types; CTRCT9
OMIM:115645 Cataract, Aberrant Oral Frenula, and Growth Retardation
OMIM:601371 Cataract, Age-Related Nuclear
OMIM:212400 Cataract and Congenital Ichthyosis
OMIM:212710 Cataract-Ataxia-Deafness-Retardation Syndrome
OMIM:300619 Cataract, Ataxia, Short Stature, and Impaired Intellectual Development
OMIM:607674 Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy
OMIM:212540 Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome
OMIM:616007 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia; CAGSSS
OMIM:301108 Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1; CHINE1
OMIM:620425 Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2; CHINE2
OMIM:619338 Cataracts, Spastic Paraparesis, and Speech Delay; CSPSD
OMIM:116790 Catechol-O-Methyltransferase; COMT
OMIM:616145 Catel-Manzke Syndrome; CATMANS
OMIM:115470 Cat Eye Syndrome; CES
OMIM:618761 Catifa Syndrome; CATIFA
OMIM:607864 Caudal Duplication Anomaly
OMIM:611543 Cavitary Optic Disc Anomalies; CODA
OMIM:125520 Cayler Cardiofacial Syndrome
OMIM:601083 CD4/CD8 T-Cell Ratio
OMIM:603116 Cdags Syndrome
OMIM:618774 Cebalid Syndrome; CEBALID
OMIM:116870 Celiac Artery Stenosis From Compression By Median Arcuate Ligament of Diaphragm
OMIM:612008 Celiac Disease, Susceptibility to, 10; CELIAC10
OMIM:612009 Celiac Disease, Susceptibility to, 11; CELIAC11
OMIM:612010 Celiac Disease, Susceptibility to, 12; CELIAC12
OMIM:612011 Celiac Disease, Susceptibility to, 13; CELIAC13
OMIM:212750 Celiac Disease, Susceptibility to, 1; CELIAC1
OMIM:609754 Celiac Disease, Susceptibility to, 2; CELIAC2
OMIM:609755 Celiac Disease, Susceptibility to, 3; CELIAC3
OMIM:609753 Celiac Disease, Susceptibility to, 4; CELIAC4
OMIM:607202 Celiac Disease, Susceptibility to, 5; CELIAC5
OMIM:611598 Celiac Disease, Susceptibility to, 6; CELIAC6
OMIM:612005 Celiac Disease, Susceptibility to, 7; CELIAC7
OMIM:612006 Celiac Disease, Susceptibility to, 8; CELIAC8
OMIM:612007 Celiac Disease, Susceptibility to, 9; CELIAC9
OMIM:212780 Cenani-Lenz Syndactyly Syndrome; CLSS
OMIM:618352 Central Centrifugal Cicatricial Alopecia; CCCA
OMIM:217600 Central Cloudy Dystrophy of Francois; CCDF
OMIM:209880 Central Hypoventilation Syndrome, Congenital, 1; CCHS1
OMIM:619482 Central Hypoventilation Syndrome, Congenital, 2, and Autonomic Dysfunction; CCHS2
OMIM:619483 Central Hypoventilation Syndrome, Congenital, 3; CCHS3
OMIM:302400 Central Incisors, Absence of
OMIM:117100 Centralopathic Epilepsy
OMIM:212800 Cephalin Lipidosis
OMIM:258300 Cerebellar Ataxia and Albinism
OMIM:212835 Cerebellar Ataxia and Ectodermal Dysplasia
OMIM:605672 Cerebellar Ataxia and Hypergonadotropic Hypogonadism
OMIM:212850 Cerebellar Ataxia and Neurosensory Deafness
OMIM:601338 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss; CAPOS
OMIM:212890 Cerebellar Ataxia, Benign, with Thermoanalgesia
OMIM:619576 Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects; CABAC
OMIM:601238 Cerebellar Ataxia, Cayman Type; ATCAY
OMIM:604121 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant;
OMIM:212895 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes; EOCA
OMIM:224050 Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 1; CAMRQ1
OMIM:610185 Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 2; CAMRQ2
OMIM:615268 Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 4; CAMRQ4
OMIM:614575 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome;
OMIM:617643 Cerebellar Atrophy, Developmental Delay, and Seizures; CADEDS
OMIM:616875 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation;
OMIM:618501 Cerebellar Atrophy with Seizures and Variable Developmental Delay;
OMIM:602197 Cerebellar Degeneration-Related Autoantigen 3
OMIM:619761 Cerebellar Dysfunction, Impaired Intellectual Development, and Hypogonadotropic Hypogonadism; CDIDHH
OMIM:614756 Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities; CECBA
OMIM:213000 Cerebellar Hypoplasia/Atrophy, Epilepsy, and Global Developmental Delay; CHEGDD
OMIM:618479 Cerebellar, Ocular, Craniofacial, and Genital Syndrome; COFG
OMIM:213010 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
OMIM:616202 Cerebellofaciodental Syndrome; CFDS
OMIM:605714 Cerebral Amyloid Angiopathy, App-Related
OMIM:105150 Cerebral Amyloid Angiopathy, Cst3-Related
OMIM:176500 Cerebral Amyloid Angiopathy, Itm2b-Related, 1
OMIM:117300 Cerebral Amyloid Angiopathy, Itm2b-Related, 2
OMIM:213500 Cerebral Angiopathy, Dysphoric
OMIM:125310 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1; CADASIL1
OMIM:616779 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2; CADASIL2
OMIM:600142 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy; CARASIL
OMIM:603284 Cerebral Cavernous Malformations 2; CCM2
OMIM:603285 Cerebral Cavernous Malformations 3; CCM3
OMIM:619538 Cerebral Cavernous Malformations 4; CCM4
OMIM:621032 Cerebral Cavernous Malformations 5; CCM5
OMIM:116860 Cerebral Cavernous Malformations; CCM
OMIM:300864 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
OMIM:300352 Cerebral Creatine Deficiency Syndrome 1; CCDS1
OMIM:612736 Cerebral Creatine Deficiency Syndrome 2; CCDS2
OMIM:612718 Cerebral Creatine Deficiency Syndrome 3; CCDS3
OMIM:609528 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; CEDNIK
OMIM:213820 Cerebral Malformation, Seizures, Hypertrichosis, and Overlapping Fingers
OMIM:605388 Cerebral Palsy, Ataxic, Autosomal Recessive
OMIM:612900 Cerebral Palsy, Spastic Quadriplegic, 2; CPSQ2
OMIM:617008 Cerebral Palsy, Spastic Quadriplegic, 3; CPSQ3
OMIM:117600 Cerebral Sarcoma
OMIM:302700 Cerebral Sclerosis, Diffuse, Scholz Type
OMIM:213900 Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease
OMIM:213950 Cerebrocortical Degeneration of Infancy
OMIM:117650 Cerebrocostomandibular Syndrome; CCMS
OMIM:214150 Cerebrooculofacioskeletal Syndrome 1; COFS1
OMIM:610756 Cerebrooculofacioskeletal Syndrome 2; COFS2
OMIM:616570 Cerebrooculofacioskeletal Syndrome 3; COFS3
OMIM:610758 Cerebrooculofacioskeletal Syndrome 4; COFS4
OMIM:605627 Cerebrooculonasal Syndrome
OMIM:609345 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
OMIM:612199 Cerebroretinal Microangiopathy with Calcifications and Cysts 1;
OMIM:617341 Cerebroretinal Microangiopathy with Calcifications and Cysts 2;
OMIM:620368 Cerebroretinal Microangiopathy with Calcifications and Cysts 3;
OMIM:213700 Cerebrotendinous Xanthomatosis; CTX
OMIM:610127 Ceroid Lipofuscinosis, Neuronal, 10; CLN10
OMIM:614706 Ceroid Lipofuscinosis, Neuronal, 11; CLN11
OMIM:615362 Ceroid Lipofuscinosis, Neuronal, 13 (kufs Type); CLN13
OMIM:619173 Ceroid Lipofuscinosis, Neuronal, 15; CLN15
OMIM:256730 Ceroid Lipofuscinosis, Neuronal, 1; CLN1
OMIM:204500 Ceroid Lipofuscinosis, Neuronal, 2; CLN2
OMIM:204200 Ceroid Lipofuscinosis, Neuronal, 3; CLN3
OMIM:162350 Ceroid Lipofuscinosis, Neuronal, 4 (kufs Type); CLN4
OMIM:256731 Ceroid Lipofuscinosis, Neuronal, 5; CLN5
OMIM:601780 Ceroid Lipofuscinosis, Neuronal, 6a; CLN6A
OMIM:204300 Ceroid Lipofuscinosis, Neuronal, 6b (kufs Type); CLN6B
OMIM:610951 Ceroid Lipofuscinosis, Neuronal, 7; CLN7
OMIM:600143 Ceroid Lipofuscinosis, Neuronal, 8; CLN8
OMIM:610003 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
OMIM:609055 Ceroid Lipofuscinosis, Neuronal, 9; CLN9
OMIM:603956 Cervical Cancer
OMIM:117850 Cervical Hypertrichosis with Underlying Kyphoscoliosis
OMIM:117900 Cervical Rib
OMIM:601389 Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction
OMIM:214290 Cervical Vertebrae, Agenesis of
OMIM:118000 Cervical Vertebral Bridge
OMIM:118005 Cervical Vertebral Dysplasia
OMIM:275630 Chanarin-Dorfman Syndrome; CDS
OMIM:214350 Chand Syndrome; CHANDS
OMIM:118300 Charcot-Marie-Tooth Disease and Deafness
OMIM:609260 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a;
OMIM:617087 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b;
OMIM:500013 Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1; CMTMA1
OMIM:118210 Charcot-Marie-Tooth Disease, Axonal, Type 2a1; CMT2A1
OMIM:605588 Charcot-Marie-Tooth Disease, Axonal, Type 2B1; CMT2B1
OMIM:605589 Charcot-Marie-Tooth Disease, Axonal, Type 2B2; CMT2B2
OMIM:600882 Charcot-Marie-Tooth Disease, Axonal, Type 2B; CMT2B
OMIM:616924 Charcot-Marie-Tooth Disease, Axonal, Type 2cc; CMT2CC
OMIM:601472 Charcot-Marie-Tooth Disease, Axonal, Type 2D; CMT2D
OMIM:618036 Charcot-Marie-Tooth Disease, Axonal, Type 2dd; CMT2DD
OMIM:607684 Charcot-Marie-Tooth Disease, Axonal, Type 2E; CMT2E
OMIM:618400 Charcot-Marie-Tooth Disease, Axonal, Type 2ee; CMT2EE
OMIM:606595 Charcot-Marie-Tooth Disease, Axonal, Type 2F; CMT2F
OMIM:619519 Charcot-Marie-Tooth Disease, Axonal, Type 2ff; CMT2FF
OMIM:606483 Charcot-Marie-Tooth Disease, Axonal, Type 2gg; CMT2GG
OMIM:607731 Charcot-Marie-Tooth Disease, Axonal, Type 2H; CMT2H
OMIM:619574 Charcot-Marie-Tooth Disease, Axonal, Type 2hh; CMT2HH
OMIM:607677 Charcot-Marie-Tooth Disease, Axonal, Type 2I; CMT2I
OMIM:620068 Charcot-Marie-Tooth Disease, Axonal, Type 2ii; CMT2II
OMIM:607736 Charcot-Marie-Tooth Disease, Axonal, Type 2J; CMT2J
OMIM:607831 Charcot-Marie-Tooth Disease, Axonal, Type 2K; CMT2K
OMIM:608673 Charcot-Marie-Tooth Disease, Axonal, Type 2L; CMT2L
OMIM:613287 Charcot-Marie-Tooth Disease, Axonal, Type 2n; CMT2N
OMIM:614228 Charcot-Marie-Tooth Disease, Axonal, Type 2o; CMT2O
OMIM:614436 Charcot-Marie-Tooth Disease, Axonal, Type 2p; CMT2P
OMIM:615025 Charcot-Marie-Tooth Disease, Axonal, Type 2q; CMT2Q
OMIM:615490 Charcot-Marie-Tooth Disease, Axonal, Type 2r; CMT2R
OMIM:616155 Charcot-Marie-Tooth Disease, Axonal, Type 2s; CMT2S
OMIM:617017 Charcot-Marie-Tooth Disease, Axonal, Type 2t; CMT2T
OMIM:616280 Charcot-Marie-Tooth Disease, Axonal, Type 2u; CMT2U
OMIM:616491 Charcot-Marie-Tooth Disease, Axonal, Type 2v; CMT2V
OMIM:616625 Charcot-Marie-Tooth Disease, Axonal, Type 2w; CMT2W
OMIM:616668 Charcot-Marie-Tooth Disease, Axonal, Type 2x; CMT2X
OMIM:616687 Charcot-Marie-Tooth Disease, Axonal, Type 2y; CMT2Y
OMIM:616688 Charcot-Marie-Tooth Disease, Axonal, Type 2z; CMT2Z
OMIM:607706 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive
OMIM:118220 Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A
OMIM:118200 Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; CMT1B
OMIM:601098 Charcot-Marie-Tooth Disease, Demyelinating, Type 1C; CMT1C
OMIM:607678 Charcot-Marie-Tooth Disease, Demyelinating, Type 1D; CMT1D
OMIM:607734 Charcot-Marie-Tooth Disease, Demyelinating, Type 1F; CMT1F
OMIM:618279 Charcot-Marie-Tooth Disease, Demyelinating, Type 1G; CMT1G
OMIM:619764 Charcot-Marie-Tooth Disease, Demyelinating, Type 1H; CMT1H
OMIM:619742 Charcot-Marie-Tooth Disease, Demyelinating, Type 1I; CMT1I
OMIM:620111 Charcot-Marie-Tooth Disease, Demyelinating, Type 1J; CMT1J
OMIM:214400 Charcot-Marie-Tooth Disease, Demyelinating, Type 4A; CMT4A
OMIM:601382 Charcot-Marie-Tooth Disease, Demyelinating, Type 4b1; CMT4B1
OMIM:604563 Charcot-Marie-Tooth Disease, Demyelinating, Type 4b2; CMT4B2
OMIM:615284 Charcot-Marie-Tooth Disease, Demyelinating, Type 4b3; CMT4B3
OMIM:601596 Charcot-Marie-Tooth Disease, Demyelinating, Type 4c; CMT4C
OMIM:601455 Charcot-Marie-Tooth Disease, Demyelinating, Type 4D; CMT4D
OMIM:614895 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f; CMT4F
OMIM:609311 Charcot-Marie-Tooth Disease, Demyelinating, Type 4h; CMT4H
OMIM:611228 Charcot-Marie-Tooth Disease, Demyelinating, Type 4j; CMT4J
OMIM:616684 Charcot-Marie-Tooth Disease, Demyelinating, Type 4k; CMT4K
OMIM:620378 Charcot-Marie-Tooth Disease, Dominant Intermediate A; CMTDIA
OMIM:606482 Charcot-Marie-Tooth Disease, Dominant Intermediate B; CMTDIB
OMIM:608323 Charcot-Marie-Tooth Disease, Dominant Intermediate C; CMTDIC
OMIM:607791 Charcot-Marie-Tooth Disease, Dominant Intermediate D; CMTDID
OMIM:614455 Charcot-Marie-Tooth Disease, Dominant Intermediate E; CMTDIE
OMIM:615185 Charcot-Marie-Tooth Disease, Dominant Intermediate F; CMTDIF
OMIM:617882 Charcot-Marie-Tooth Disease, Dominant Intermediate G; CMTDIG
OMIM:118230 Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
OMIM:608340 Charcot-Marie-Tooth Disease, Recessive Intermediate A; CMTRIA
OMIM:613641 Charcot-Marie-Tooth Disease, Recessive Intermediate B; CMTRIB
OMIM:615376 Charcot-Marie-Tooth Disease, Recessive Intermediate C; CMTRIC
OMIM:616039 Charcot-Marie-Tooth Disease, Recessive Intermediate D; CMTRID
OMIM:118301 Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism
OMIM:302800 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1; CMTX1
OMIM:300905 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6; CMTX6
OMIM:302801 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2; CMTX2
OMIM:302802 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3
OMIM:310490 Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or without Cerebellar Ataxia; CMTX4
OMIM:311070 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5; CMTX5
OMIM:302900 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
OMIM:302803 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita
OMIM:214800 CHARGE Syndrome
OMIM:169100 Char Syndrome; CHAR
OMIM:214500 Chediak-Higashi Syndrome; CHS
OMIM:118330 Cheilitis Glandularis
OMIM:118350 Chemodectoma, Intraabdominal, with Cutaneous Angiolipomas
OMIM:158105 Chemokine, Cc Motif, Ligand 2; CCL2
OMIM:609467 Chemokine, Cc Motif, Ligand 3, Pseudogene 1; CCL3P1
OMIM:118400 Cherubism
OMIM:118420 Chiari Malformation Type I
OMIM:207950 Chiari Malformation Type II
OMIM:610448 Chilblain Lupus 1; CHBL1
OMIM:614415 Chilblain Lupus 2; CHBL2
OMIM:619841 Chilton-Okur-Chung Neurodevelopmental Syndrome; CHOCNS
OMIM:617180 Chitayat Syndrome; CHYTS
OMIM:614122 Chitotriosidase Deficiency; CHITD
OMIM:515000 Chloramphenicol Toxicity
OMIM:118430 Chlorpropamide-Alcohol Flushing; CPAF
OMIM:613611 Choanal Atresia and Lymphedema; CATLPH
OMIM:608911 Choanal Atresia, Posterior; PCA
OMIM:615619 Cholangiocarcinoma, Susceptibility to
OMIM:613806 Cholangitis, Primary Sclerosing; PSC
OMIM:243300 Cholestasis, Benign Recurrent Intrahepatic, 1; BRIC1
OMIM:605479 Cholestasis, Benign Recurrent Intrahepatic, 2; BRIC2
OMIM:147480 Cholestasis, Intrahepatic, of Pregnancy, 1; ICP1
OMIM:614972 Cholestasis, Intrahepatic, of Pregnancy 3; ICP3
OMIM:214900 Cholestasis-Lymphedema Syndrome
OMIM:619868 Cholestasis, Progressive Familial Intrahepatic, 10; PFIC10
OMIM:619874 Cholestasis, Progressive Familial Intrahepatic, 11; PFIC11
OMIM:620010 Cholestasis, Progressive Familial Intrahepatic, 12; PFIC12
OMIM:620962 Cholestasis, Progressive Familial Intrahepatic, 13; PFIC13
OMIM:211600 Cholestasis, Progressive Familial Intrahepatic, 1; PFIC1
OMIM:601847 Cholestasis, Progressive Familial Intrahepatic, 2; PFIC2
OMIM:602347 Cholestasis, Progressive Familial Intrahepatic, 3; PFIC3
OMIM:615878 Cholestasis, Progressive Familial Intrahepatic, 4; PFIC4
OMIM:617049 Cholestasis, Progressive Familial Intrahepatic, 5; PFIC5
OMIM:619484 Cholestasis, Progressive Familial Intrahepatic, 6; PFIC6
OMIM:619658 Cholestasis, Progressive Familial Intrahepatic, 7, with or without Hearing Loss; PFIC7
OMIM:619662 Cholestasis, Progressive Familial Intrahepatic, 8; PFIC8
OMIM:619849 Cholestasis, Progressive Familial Intrahepatic, 9; PFIC9
OMIM:214980 Cholestasis with Gallstone, Ataxia, and Visual Disturbance
OMIM:604183 Cholesteatoma, Congenital
OMIM:215030 Cholesterol Pneumonia
OMIM:278000 Cholesteryl Ester Storage Disease; CESD
OMIM:600668 Chondrocalcinosis 1; CCAL1
OMIM:118600 Chondrocalcinosis 2; CCAL2
OMIM:118610 Chondrocalcinosis Due to Apatite Crystal Deposition
OMIM:215045 Chondrodysplasia, Blomstrand Type; BOCD
OMIM:215050 Chondrodysplasia Calcificans Metaphysealis
OMIM:601376 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density
OMIM:302950 Chondrodysplasia Punctata 1, X-Linked Recessive; CDPX1
OMIM:302960 Chondrodysplasia Punctata 2, X-Linked Dominant; CDPX2
OMIM:118650 Chondrodysplasia Punctata, Autosomal Dominant
OMIM:602497 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal
OMIM:215105 Chondrodysplasia Punctata Syndrome
OMIM:118651 Chondrodysplasia Punctata, Tibia-Metacarpal Type
OMIM:614078 Chondrodysplasia with Joint Dislocations, Gpapp Type
OMIM:300863 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia
OMIM:215250 Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
OMIM:118670 Chondronectin
OMIM:215300 Chondrosarcoma
OMIM:612237 Chondrosarcoma, Extraskeletal Myxoid
OMIM:619504 Chopra-Amiel-Gordon Syndrome; CAGS
OMIM:616368 Chops Syndrome; CHOPS
OMIM:215400 Chordoma, Susceptibility To; CHDM
OMIM:215450 Chorea, Benign Familial
OMIM:118700 Chorea, Benign Hereditary; BHC
OMIM:616939 Chorea, Childhood-Onset, with Psychomotor Retardation; COCPMR
OMIM:601372 Chorea, Remitting, with Nystagmus and Cataract
OMIM:200150 Choreoacanthocytosis; CHAC
OMIM:610978 Choreoathetosis and Congenital Hypothyroidism with or without Pulmonary Dysfunction; CAHTP
OMIM:118750 Choreoathetosis, Familial Inverted
OMIM:600790 Chorioretinal Atrophy, Progressive Bifocal; PBCRA
OMIM:215500 Choroidal Dystrophy, Central Areolar, 1; CACD1
OMIM:613105 Choroidal Dystrophy, Central Areolar 2; CACD2
OMIM:613144 Choroidal Dystrophy, Central Areolar, 3; CACD3
OMIM:118865 Choroidal Osteoma, Bilateral
OMIM:303100 Choroideremia; CHM
OMIM:215480 Choroid Plexus Calcification and Impaired Intellectual Development
OMIM:309620 Christian Syndrome; CHRS
OMIM:215510 Chromosomal Instability with Tissue-Specific Radiosensitivity
OMIM:612242 Chromosome 10q22.3-Q23.2 Deletion Syndrome
OMIM:609625 Chromosome 10q26 Deletion Syndrome
OMIM:616902 Chromosome 11p13 Deletion Syndrome, Distal
OMIM:613884 Chromosome 13q14 Deletion Syndrome
OMIM:619148 Chromosome 13q33-Q34 Deletion Syndrome
OMIM:613457 Chromosome 14q11-Q22 Deletion Syndrome
OMIM:616604 Chromosome 14q32 Duplication Syndrome, 700-Kb
OMIM:615656 Chromosome 15q11.2 Deletion Syndrome
OMIM:608636 Chromosome 15q11-Q13 Duplication Syndrome
OMIM:612001 Chromosome 15q13.3 Deletion Syndrome
OMIM:616898 Chromosome 15q14 Deletion Syndrome
OMIM:614294 Chromosome 15q25 Deletion Syndrome
OMIM:612626 Chromosome 15q26-Qter Deletion Syndrome
OMIM:615835 Chromosome 16 Inversion, 0.45-Mb
OMIM:613444 Chromosome 16p11.2 Deletion Syndrome, 220-Kb
OMIM:611913 Chromosome 16p11.2 Deletion Syndrome, 593-Kb
OMIM:614671 Chromosome 16p11.2 Duplication Syndrome
OMIM:136570 Chromosome 16p12.1 Deletion Syndrome, 520-Kb
OMIM:613604 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb
OMIM:610543 Chromosome 16p13.3 Deletion Syndrome, Proximal
OMIM:613458 Chromosome 16p13.3 Duplication Syndrome
OMIM:619649 Chromosome 16q12 Duplication Syndrome
OMIM:614541 Chromosome 16q22 Deletion Syndrome
OMIM:613776 Chromosome 17p13.1 Deletion Syndrome
OMIM:613215 Chromosome 17p13.3, Centromeric, Duplication Syndrome
OMIM:612576 Chromosome 17p13.3, Telomeric, Duplication Syndrome
OMIM:613675 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb
OMIM:618874 Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb
OMIM:614527 Chromosome 17q12 Deletion Syndrome
OMIM:614526 Chromosome 17q12 Duplication Syndrome
OMIM:613533 Chromosome 17q21.31 Duplication Syndrome
OMIM:613355 Chromosome 17q23.1-Q23.2 Deletion Syndrome
OMIM:613618 Chromosome 17q23.1-Q23.2 Duplication Syndrome
OMIM:146390 Chromosome 18p Deletion Syndrome
OMIM:609334 Chromosome 18 Pericentric Inversion
OMIM:601808 Chromosome 18q Deletion Syndrome
OMIM:613638 Chromosome 19p13.13 Deletion Syndrome
OMIM:613026 Chromosome 19q13.11 Deletion Syndrome, Distal
OMIM:617219 Chromosome 19q13.11 Deletion Syndrome, Proximal
OMIM:617930 Chromosome 1p35 Deletion Syndrome
OMIM:618815 Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
OMIM:607872 Chromosome 1p36 Deletion Syndrome, Distal
OMIM:619343 Chromosome 1p36 Deletion Syndrome, Proximal
OMIM:612474 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
OMIM:612475 Chromosome 1q21.1 Duplication Syndrome
OMIM:612530 Chromosome 1q41-Q42 Deletion Syndrome
OMIM:614257 Chromosome 20q11-Q12 Deletion Syndrome
OMIM:611867 Chromosome 22q11.2 Deletion Syndrome, Distal
OMIM:608363 Chromosome 22q11.2 Duplication Syndrome
OMIM:615538 Chromosome 22q13 Duplication Syndrome
OMIM:613564 Chromosome 2p12-P11.2 Deletion Syndrome
OMIM:612513 Chromosome 2p16.1-P15 Deletion Syndrome
OMIM:614332 Chromosome 2p16.3 Deletion Syndrome
OMIM:613681 Chromosome 2q31.1 Duplication Syndrome
OMIM:612345 Chromosome 2q31.2 Deletion Syndrome
OMIM:185900 Chromosome 2q35 Duplication Syndrome
OMIM:600430 Chromosome 2q37 Deletion Syndrome
OMIM:613792 Chromosome 3pter-P25 Deletion Syndrome
OMIM:615433 Chromosome 3q13.31 Deletion Syndrome
OMIM:609425 Chromosome 3q29 Deletion Syndrome
OMIM:611936 Chromosome 3q29 Duplication Syndrome
OMIM:613509 Chromosome 4q21 Deletion Syndrome
OMIM:613603 Chromosome 4q32.1-Q32.2 Triplication Syndrome
OMIM:613174 Chromosome 5p13 Duplication Syndrome
OMIM:615668 Chromosome 5q12 Deletion Syndrome
OMIM:612881 Chromosome 5q14.3 Deletion Syndrome, Distal
OMIM:153550 Chromosome 5q Deletion Syndrome
OMIM:612582 Chromosome 6pter-P24 Deletion Syndrome
OMIM:613544 Chromosome 6q11-Q14 Deletion Syndrome
OMIM:612863 Chromosome 6q24-Q25 Deletion Syndrome
OMIM:613729 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb
OMIM:613523 Chromosome 8p11 Myeloproliferative Syndrome
OMIM:600257 Chromosome 8q12.1-Q21.2 Deletion Syndrome
OMIM:614230 Chromosome 8q21.11 Deletion Syndrome
OMIM:151200 Chromosome 8q22.1 Duplication Syndrome
OMIM:158170 Chromosome 9p Deletion Syndrome
OMIM:300705 Chromosome Xp11.22 Duplication Syndrome
OMIM:300801 Chromosome Xp11.23-P11.22 Duplication Syndrome
OMIM:300578 Chromosome Xp11.3 Deletion Syndrome
OMIM:300679 Chromosome Xp21 Deletion Syndrome
OMIM:301069 Chromosome Xq13 Duplication Syndrome
OMIM:303110 Chromosome Xq21 Deletion Syndrome
OMIM:300979 Chromosome Xq25 Duplication Syndrome
OMIM:300942 Chromosome Xq26.3 Duplication Syndrome
OMIM:300869 Chromosome Xq27.3-Q28 Duplication Syndrome
OMIM:300815 Chromosome Xq28 Duplication Syndrome
OMIM:616201 Chronic Atrial and Intestinal Dysrhythmia; CAID
OMIM:616182 Chronic Mountain Sickness, Susceptibility to
OMIM:612852 Chronic Recurrent Multifocal Osteomyelitis 2, with Periostitis and Pustulosis; CRMO2
OMIM:259680 Chronic Recurrent Multifocal Osteomyelitis 3; CRMO3
OMIM:604213 Chudley-Mccullough Syndrome; CMCS
OMIM:253320 Chudley Syndrome
OMIM:617991 Chung-Jansen Syndrome; CHUJANS
OMIM:118830 Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase
OMIM:246700 Chylomicron Retention Disease; CMRD
OMIM:603523 Chylothorax, Congenital
OMIM:215518 Ciliary Discoordination Due to Random Ciliary Orientation
OMIM:612518 Ciliary Dyskinesia, Primary, 10; CILD10
OMIM:612649 Ciliary Dyskinesia, Primary, 11; CILD11
OMIM:612650 Ciliary Dyskinesia, Primary, 12; CILD12
OMIM:613193 Ciliary Dyskinesia, Primary, 13; CILD13
OMIM:613807 Ciliary Dyskinesia, Primary, 14; CILD14
OMIM:613808 Ciliary Dyskinesia, Primary, 15; CILD15
OMIM:614017 Ciliary Dyskinesia, Primary, 16; CILD16
OMIM:614679 Ciliary Dyskinesia, Primary, 17; CILD17
OMIM:614874 Ciliary Dyskinesia, Primary, 18; CILD18
OMIM:614935 Ciliary Dyskinesia, Primary, 19; CILD19
OMIM:244400 Ciliary Dyskinesia, Primary, 1; CILD1
OMIM:615067 Ciliary Dyskinesia, Primary, 20; CILD20
OMIM:615294 Ciliary Dyskinesia, Primary, 21; CILD21
OMIM:615444 Ciliary Dyskinesia, Primary, 22; CILD22
OMIM:615451 Ciliary Dyskinesia, Primary, 23; CILD23
OMIM:615481 Ciliary Dyskinesia, Primary, 24; CILD24
OMIM:615482 Ciliary Dyskinesia, Primary, 25; CILD25
OMIM:615500 Ciliary Dyskinesia, Primary, 26; CILD26
OMIM:615504 Ciliary Dyskinesia, Primary, 27; CILD27
OMIM:615505 Ciliary Dyskinesia, Primary, 28; CILD28
OMIM:615872 Ciliary Dyskinesia, Primary, 29; CILD29
OMIM:606763 Ciliary Dyskinesia, Primary, 2; CILD2
OMIM:616037 Ciliary Dyskinesia, Primary, 30; CILD30
OMIM:616481 Ciliary Dyskinesia, Primary, 32; CILD32
OMIM:616726 Ciliary Dyskinesia, Primary, 33; CILD33
OMIM:617091 Ciliary Dyskinesia, Primary, 34; CILD34
OMIM:617092 Ciliary Dyskinesia, Primary, 35; CILD35
OMIM:300991 Ciliary Dyskinesia, Primary, 36, X-Linked; CILD36
OMIM:617577 Ciliary Dyskinesia, Primary, 37; CILD37
OMIM:618063 Ciliary Dyskinesia, Primary, 38; CILD38
OMIM:618254 Ciliary Dyskinesia, Primary, 39; CILD39
OMIM:608644 Ciliary Dyskinesia, Primary, 3; CILD3
OMIM:618300 Ciliary Dyskinesia, Primary, 40; CILD40
OMIM:618449 Ciliary Dyskinesia, Primary, 41; CILD41
OMIM:618695 Ciliary Dyskinesia, Primary, 42; CILD42
OMIM:618699 Ciliary Dyskinesia, Primary, 43; CILD43
OMIM:618781 Ciliary Dyskinesia, Primary, 44; CILD44
OMIM:618801 Ciliary Dyskinesia, Primary, 45; CILD45
OMIM:619436 Ciliary Dyskinesia, Primary, 46; CILD46
OMIM:619466 Ciliary Dyskinesia, Primary, 47, and Lissencephaly; CILD47
OMIM:620032 Ciliary Dyskinesia, Primary, 48, without Situs Inversus; CILD48
OMIM:620197 Ciliary Dyskinesia, Primary, 49, without Situs Inversus; CILD49
OMIM:608646 Ciliary Dyskinesia, Primary, 4; CILD4
OMIM:620356 Ciliary Dyskinesia, Primary, 50; CILD50
OMIM:620438 Ciliary Dyskinesia, Primary, 51; CILD51
OMIM:620570 Ciliary Dyskinesia, Primary, 52; CILD52
OMIM:620642 Ciliary Dyskinesia, Primary, 53; CILD53
OMIM:608647 Ciliary Dyskinesia, Primary, 5; CILD5
OMIM:610852 Ciliary Dyskinesia, Primary, 6; CILD6
OMIM:611884 Ciliary Dyskinesia, Primary, 7; CILD7
OMIM:612274 Ciliary Dyskinesia, Primary, 8; CILD8
OMIM:612444 Ciliary Dyskinesia, Primary, 9; CILD9
OMIM:242670 Ciliary Dyskinesia with Defective Radial Spokes
OMIM:242680 Ciliary Dyskinesia with Excessively Long Cilia
OMIM:215520 Ciliary Dyskinesia with Transposition of Ciliary Microtubules
OMIM:619273 Cimdag Syndrome; CIMDAG
OMIM:607115 CINCA Syndrome; CINCA
OMIM:215550 Circumvallate Placenta Syndrome
OMIM:215600 Cirrhosis, Familial
OMIM:118900 Cirrhosis, Familial
OMIM:215700 Citrullinemia, Classic
OMIM:603471 Citrullinemia, Type II, Adult-Onset; CTLN2
OMIM:605814 Citrullinemia, Type II, Neonatal-Onset
OMIM:215720 Citrulline Transport Defect
OMIM:300831 Ck Syndrome; CKS
OMIM:617752 Clark-Baraitser Syndrome; CLABARS
OMIM:118980 Clavicle, Pseudarthrosis of, Congenital
OMIM:605040 Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia
OMIM:119000 Cleft Chin
OMIM:215800 Cleft Larynx, Posterior
OMIM:215850 Cleft-Limb-Heart Malformation Syndrome
OMIM:225060 Cleft Lip/Palate-Ectodermal Dysplasia Syndrome; CLPED1
OMIM:601165 Cleft Lip/Palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease
OMIM:155145 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa
OMIM:600460 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
OMIM:600987 Cleft Palate, Cardiac Defects, and Impaired Intellectual Development;
OMIM:216300 Cleft Palate, Deafness, and Oligodontia
OMIM:119540 Cleft Palate, Isolated; CPI
OMIM:609466 Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
OMIM:619074 Cleft Palate, Proliferative Retinopathy, and Developmental Delay;
OMIM:616728 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features; CPRF
OMIM:303400 Cleft Palate with or without Ankyloglossia, X-Linked; CPX
OMIM:119570 Cleft Soft Palate
OMIM:119600 Cleidocranial Dysplasia 1; CLCD1
OMIM:620099 Cleidocranial Dysplasia 2; CLCD2
OMIM:216330 Cleidocranial Dysplasia, Recessive Form
OMIM:119650 Cleidorhizomelic Syndrome
OMIM:129500 Clouston Syndrome
OMIM:119800 Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF
OMIM:119915 Cluster Headache, Familial
OMIM:216360 Coach Syndrome 1; COACH1
OMIM:619111 Coach Syndrome 2; COACH2
OMIM:619113 Coach Syndrome 3; COACH3
OMIM:120000 Coarctation of Aorta
OMIM:300216 Coats Disease
OMIM:120040 Cochleosaccular Degeneration with Progressive Cataracts
OMIM:216400 Cockayne Syndrome A; CSA
OMIM:133540 Cockayne Syndrome B; CSB
OMIM:600373 CODAS Syndrome
OMIM:607426 Coenzyme Q10 Deficiency, Primary, 1; COQ10D1
OMIM:614651 Coenzyme Q10 Deficiency, Primary, 2; COQ10D2
OMIM:614652 Coenzyme Q10 Deficiency, Primary, 3; COQ10D3
OMIM:612016 Coenzyme Q10 Deficiency, Primary, 4; COQ10D4
OMIM:614654 Coenzyme Q10 Deficiency, Primary, 5; COQ10D5
OMIM:614650 Coenzyme Q10 Deficiency, Primary, 6; COQ10D6
OMIM:616276 Coenzyme Q10 Deficiency, Primary, 7; COQ10D7
OMIM:616733 Coenzyme Q10 Deficiency, Primary, 8; COQ10D8
OMIM:619028 Coenzyme Q10 Deficiency, Primary, 9; COQ10D9
OMIM:303600 Coffin-Lowry Syndrome; CLS
OMIM:618779 Coffin-Siris Syndrome 11; CSS11
OMIM:619325 Coffin-Siris Syndrome 12; CSS12
OMIM:135900 Coffin-Siris Syndrome 1; CSS1
OMIM:614607 Coffin-Siris Syndrome 2; CSS2
OMIM:614608 Coffin-Siris Syndrome 3; CSS3
OMIM:614609 Coffin-Siris Syndrome 4; CSS4
OMIM:616938 Coffin-Siris Syndrome 5; CSS5
OMIM:617808 Coffin-Siris Syndrome 6; CSS6
OMIM:618027 Coffin-Siris Syndrome 7; CSS7
OMIM:618362 Coffin-Siris Syndrome 8; CSS8
OMIM:300082 Cognitive Function 1, Social; CGF1
OMIM:614306 Cognitive Impairment with or without Cerebellar Ataxia; CIAT
OMIM:617561 Cohen-Gibson Syndrome; COGIS
OMIM:216550 Cohen Syndrome; COH1
OMIM:120080 Colchicine Resistance
OMIM:112240 Cole-Carpenter Syndrome 1; CLCRP1
OMIM:616294 Cole-Carpenter Syndrome 2; CLCRP2
OMIM:615522 Cole Disease; COLED
OMIM:115250 Collagenoma, Familial Cutaneous
OMIM:216700 Collagenosis, Familial Reactive Perforating; RPC
OMIM:609363 Colloid Cysts of Third Ventricle
OMIM:280000 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, and Ear Anomalies Syndrome; CHIME
OMIM:601794 Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
OMIM:216820 Coloboma, Ocular, Autosomal Recessive
OMIM:120433 Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Impaired Intellectual Development; COB1
OMIM:120300 Coloboma of Macula
OMIM:216800 Coloboma of Macula and Skeletal Anomalies
OMIM:120400 Coloboma of Macula with Type B Brachydactyly
OMIM:120430 Coloboma of Optic Nerve
OMIM:617306 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; COMMAD
OMIM:303650 Colonic Atresia
OMIM:120440 Colonic Varices without Portal Hypertension
OMIM:303800 Colorblindness, Partial, Deutan Series; CBD
OMIM:303900 Colorblindness, Partial, Protan Series; CBP
OMIM:114500 Colorectal Cancer; CRC
OMIM:614331 Colorectal Cancer, Hereditary Nonpolyposis, Type 6; HNPCC6
OMIM:614385 Colorectal Cancer, Hereditary Nonpolyposis, Type 7; HNPCC7
OMIM:612591 Colorectal Cancer, Susceptibility to, 10; CRCS10
OMIM:612592 Colorectal Cancer, Susceptibility to, 11; CRCS11
OMIM:615083 Colorectal Cancer, Susceptibility to, 12; CRCS12
OMIM:608812 Colorectal Cancer, Susceptibility to, 1; CRCS1
OMIM:611469 Colorectal Cancer, Susceptibility to, 2; CRCS2
OMIM:612229 Colorectal Cancer, Susceptibility to, 3; CRCS3
OMIM:612230 Colorectal Cancer, Susceptibility to, 5; CRCS5
OMIM:612231 Colorectal Cancer, Susceptibility to, 6; CRCS6
OMIM:612232 Colorectal Cancer, Susceptibility to, 7; CRCS7
OMIM:612589 Colorectal Cancer, Susceptibility to, 8; CRCS8
OMIM:612590 Colorectal Cancer, Susceptibility to, 9; CRCS9
OMIM:233650 Combined Cellular and Humoral Immune Defects with Granulomas; CCHIDG
OMIM:615182 Combined D-2- and L-2-Hydroxyglutaric Aciduria; D2L2AD
OMIM:617780 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia; CIMAH
OMIM:312863 Combined Immunodeficiency, X-Linked; CIDX
OMIM:620364 Combined Low Ldl and Fibrinogen; CLDLFIB
OMIM:614265 Combined Malonic and Methylmalonic Aciduria; CMAMMA
OMIM:619115 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1; OIEDS1
OMIM:619120 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2; OIEDS2
OMIM:614702 Combined Oxidative Phosphorylation Deficiency 10; COXPD10
OMIM:614922 Combined Oxidative Phosphorylation Deficiency 11; COXPD11
OMIM:614924 Combined Oxidative Phosphorylation Deficiency 12; COXPD12
OMIM:614932 Combined Oxidative Phosphorylation Deficiency 13; COXPD13
OMIM:614946 Combined Oxidative Phosphorylation Deficiency 14; COXPD14
OMIM:614947 Combined Oxidative Phosphorylation Deficiency 15; COXPD15
OMIM:615395 Combined Oxidative Phosphorylation Deficiency 16; COXPD16
OMIM:615440 Combined Oxidative Phosphorylation Deficiency 17; COXPD17
OMIM:615578 Combined Oxidative Phosphorylation Deficiency 18; COXPD18
OMIM:615595 Combined Oxidative Phosphorylation Deficiency 19; COXPD19
OMIM:609060 Combined Oxidative Phosphorylation Deficiency 1; COXPD1
OMIM:615917 Combined Oxidative Phosphorylation Deficiency 20; COXPD20
OMIM:615918 Combined Oxidative Phosphorylation Deficiency 21; COXPD21
OMIM:616045 Combined Oxidative Phosphorylation Deficiency 22; COXPD22
OMIM:616198 Combined Oxidative Phosphorylation Deficiency 23; COXPD23
OMIM:616239 Combined Oxidative Phosphorylation Deficiency 24; COXPD24
OMIM:616430 Combined Oxidative Phosphorylation Deficiency 25; COXPD25
OMIM:616672 Combined Oxidative Phosphorylation Deficiency 27; COXPD27
OMIM:616794 Combined Oxidative Phosphorylation Deficiency 28; COXPD28
OMIM:616811 Combined Oxidative Phosphorylation Deficiency 29; COXPD29
OMIM:610498 Combined Oxidative Phosphorylation Deficiency 2; COXPD2
OMIM:616974 Combined Oxidative Phosphorylation Deficiency 30; COXPD30
OMIM:617228 Combined Oxidative Phosphorylation Deficiency 31; COXPD31
OMIM:617664 Combined Oxidative Phosphorylation Deficiency 32; COXPD32
OMIM:617713 Combined Oxidative Phosphorylation Deficiency 33; COXPD33
OMIM:617872 Combined Oxidative Phosphorylation Deficiency 34; COXPD34
OMIM:617873 Combined Oxidative Phosphorylation Deficiency 35; COXPD35
OMIM:617950 Combined Oxidative Phosphorylation Deficiency 36; COXPD36
OMIM:618329 Combined Oxidative Phosphorylation Deficiency 37; COXPD37
OMIM:618378 Combined Oxidative Phosphorylation Deficiency 38; COXPD38
OMIM:618397 Combined Oxidative Phosphorylation Deficiency 39; COXPD39
OMIM:610505 Combined Oxidative Phosphorylation Deficiency 3; COXPD3
OMIM:618835 Combined Oxidative Phosphorylation Deficiency 40; COXPD40
OMIM:618838 Combined Oxidative Phosphorylation Deficiency 41; COXPD41
OMIM:618839 Combined Oxidative Phosphorylation Deficiency 42; COXPD42
OMIM:618851 Combined Oxidative Phosphorylation Deficiency 43; COXPD43
OMIM:618855 Combined Oxidative Phosphorylation Deficiency 44; COXPD44
OMIM:618951 Combined Oxidative Phosphorylation Deficiency 45; COXPD45
OMIM:618952 Combined Oxidative Phosphorylation Deficiency 46; COXPD46
OMIM:618958 Combined Oxidative Phosphorylation Deficiency 47; COXPD47
OMIM:619012 Combined Oxidative Phosphorylation Deficiency 48; COXPD48
OMIM:619024 Combined Oxidative Phosphorylation Deficiency 49; COXPD49
OMIM:610678 Combined Oxidative Phosphorylation Deficiency 4; COXPD4
OMIM:619025 Combined Oxidative Phosphorylation Deficiency 50; COXPD50
OMIM:619057 Combined Oxidative Phosphorylation Deficiency 51; COXPD51
OMIM:619386 Combined Oxidative Phosphorylation Deficiency 52; COXPD52
OMIM:619423 Combined Oxidative Phosphorylation Deficiency 53; COXPD53
OMIM:619737 Combined Oxidative Phosphorylation Deficiency 54; COXPD54
OMIM:619743 Combined Oxidative Phosphorylation Deficiency 55; COXPD55
OMIM:620139 Combined Oxidative Phosphorylation Deficiency 56; COXPD56
OMIM:620167 Combined Oxidative Phosphorylation Deficiency 57; COXPD57
OMIM:620451 Combined Oxidative Phosphorylation Deficiency 58; COXPD58
OMIM:620646 Combined Oxidative Phosphorylation Deficiency 59; COXPD59
OMIM:611719 Combined Oxidative Phosphorylation Deficiency 5; COXPD5
OMIM:300816 Combined Oxidative Phosphorylation Deficiency 6; COXPD6
OMIM:613559 Combined Oxidative Phosphorylation Deficiency 7; COXPD7
OMIM:614096 Combined Oxidative Phosphorylation Deficiency 8; COXPD8
OMIM:614582 Combined Oxidative Phosphorylation Deficiency 9; COXPD9
OMIM:611721 Combined Saposin Deficiency; PSAPD
OMIM:120450 Comedones, Familial Dyskeratotic
OMIM:120500 Commissural Lip Pits
OMIM:217000 Complement Component 2 Deficiency; C2D
OMIM:613779 Complement Component 3 Deficiency, Autosomal Recessive; C3D
OMIM:614380 Complement Component 4a Deficiency; C4AD
OMIM:614379 Complement Component 4b Deficiency; C4BD
OMIM:120790 Complement Component 4, Partial Deficiency of
OMIM:609536 Complement Component 5 Deficiency; C5D
OMIM:612446 Complement Component 6 Deficiency; C6D
OMIM:610102 Complement Component 7 Deficiency; C7D
OMIM:613790 Complement Component 8 Deficiency, Type I; C8D1
OMIM:613789 Complement Component 8 Deficiency, Type II; C8D2
OMIM:613825 Complement Component 9 Deficiency; C9D
OMIM:216950 Complement Component C1r/C1s Deficiency
OMIM:613783 Complement Component C1s Deficiency; C1SD
OMIM:615561 Complement Factor B Deficiency; CFBD
OMIM:613912 Complement Factor D Deficiency; CFDD
OMIM:609814 Complement Factor H Deficiency; CFHD
OMIM:610984 Complement Factor I Deficiency; CFID
OMIM:226300 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy; CHAPLE
OMIM:602093 Cone Dystrophy 3; COD3
OMIM:613093 Cone Dystrophy 4; COD4
OMIM:304030 Cone Dystrophy, X-Linked, with Tapetal-Like Sheen
OMIM:610283 Cone-Rod Dystrophy 10; CORD10
OMIM:610381 Cone-Rod Dystrophy 11; CORD11
OMIM:612657 Cone-Rod Dystrophy 12; CORD12
OMIM:608194 Cone-Rod Dystrophy 13; CORD13
OMIM:613660 Cone-Rod Dystrophy 15; CORD15
OMIM:614500 Cone-Rod Dystrophy 16; CORD16
OMIM:615163 Cone-Rod Dystrophy 17; CORD17
OMIM:615374 Cone-Rod Dystrophy 18; CORD18
OMIM:615860 Cone-Rod Dystrophy 19; CORD19
OMIM:600624 Cone-Rod Dystrophy 1; CORD1
OMIM:615973 Cone-Rod Dystrophy 20; CORD20
OMIM:616502 Cone-Rod Dystrophy 21; CORD21
OMIM:619531 Cone-Rod Dystrophy 22; CORD22
OMIM:620342 Cone-Rod Dystrophy 24; CORD24
OMIM:120970 Cone-Rod Dystrophy 2; CORD2
OMIM:604116 Cone-Rod Dystrophy 3; CORD3
OMIM:600977 Cone-Rod Dystrophy 5; CORD5
OMIM:601777 Cone-Rod Dystrophy 6; CORD6
OMIM:603649 Cone-Rod Dystrophy 7; CORD7
OMIM:605549 Cone-Rod Dystrophy 8; CORD8
OMIM:612775 Cone-Rod Dystrophy 9; CORD9
OMIM:617236 Cone-Rod Dystrophy and Hearing Loss 1; CRDHL1
OMIM:618358 Cone-Rod Dystrophy and Hearing Loss 2; CRDHL2
OMIM:304020 Cone-Rod Dystrophy, X-Linked, 1; CORDX1
OMIM:300085 Cone-Rod Dystrophy, X-Linked, 2; CORDX2
OMIM:300476 Cone-Rod Dystrophy, X-Linked, 3; CORDX3
OMIM:610427 Cone-Rod Synaptic Disorder, Congenital Nonprogressive; CRSD
OMIM:618970 Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive; CRSDS
OMIM:610805 Congenital Anomalies of Kidney and Urinary Tract 1; CAKUT1
OMIM:143400 Congenital Anomalies of Kidney and Urinary Tract 2; CAKUT2
OMIM:618270 Congenital Anomalies of Kidney and Urinary Tract 3; CAKUT3
OMIM:617641 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay; CAKUTHED
OMIM:611890 Congenital Arthrogryposis with Anterior Horn Cell Disease; CAAHD
OMIM:604168 Congenital Cataracts, Facial Dysmorphism, and Neuropathy; CCFDN
OMIM:616266 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay; CLIFAHDD
OMIM:608484 Congenital Corneal Opacities, Cornea Guttata, and Corectopia
OMIM:615273 Congenital Disorder of Deglycosylation 1; CDDG1
OMIM:619775 Congenital Disorder of Deglycosylation 2; CDDG2
OMIM:301133 Congenital Disorder of Glycosylation, Type 1dd; CDG1DD
OMIM:619493 Congenital Disorder of Glycosylation, Type 2v; CDG2V
OMIM:617082 Congenital Disorder of Glycosylation, Type Iaa; CDG1AA
OMIM:212065 Congenital Disorder of Glycosylation, Type IA; CDG1A
OMIM:602579 Congenital Disorder of Glycosylation, Type IB; CDG1B
OMIM:301031 Congenital Disorder of Glycosylation, Type Icc; CDG1CC
OMIM:603147 Congenital Disorder of Glycosylation, Type Ic; CDG1C
OMIM:601110 Congenital Disorder of Glycosylation, Type ID; CDG1D
OMIM:608799 Congenital Disorder of Glycosylation, Type IE; CDG1E
OMIM:609180 Congenital Disorder of Glycosylation, Type IF; CDG1F
OMIM:607143 Congenital Disorder of Glycosylation, Type IG; CDG1G
OMIM:608104 Congenital Disorder of Glycosylation, Type IH; CDG1H
OMIM:620454 Congenital Disorder of Glycosylation, Type Iiaa; CDG2AA
OMIM:212066 Congenital Disorder of Glycosylation, Type IIA; CDG2A
OMIM:620546 Congenital Disorder of Glycosylation, Type Iibb; CDG2BB
OMIM:606056 Congenital Disorder of Glycosylation, Type IIB; CDG2B
OMIM:266265 Congenital Disorder of Glycosylation, Type IIC; CDG2C
OMIM:607906 Congenital Disorder of Glycosylation, Type II; CDG1I
OMIM:607091 Congenital Disorder of Glycosylation, Type Iid; CDG2D
OMIM:608779 Congenital Disorder of Glycosylation, Type Iie; CDG2E
OMIM:603585 Congenital Disorder of Glycosylation, Type Iif; CDG2F
OMIM:611209 Congenital Disorder of Glycosylation, Type Iig; CDG2G
OMIM:611182 Congenital Disorder of Glycosylation, Type Iih; CDG2H
OMIM:613612 Congenital Disorder of Glycosylation, Type III; CDG2I
OMIM:212067 Congenital Disorder of Glycosylation, Type I/IIx
OMIM:613489 Congenital Disorder of Glycosylation, Type Iij; CDG2J
OMIM:614727 Congenital Disorder of Glycosylation, Type Iik; CDG2K
OMIM:614576 Congenital Disorder of Glycosylation, Type Iil; CDG2L
OMIM:300896 Congenital Disorder of Glycosylation, Type Iim; CDG2M
OMIM:616721 Congenital Disorder of Glycosylation, Type Iin; CDG2N
OMIM:616828 Congenital Disorder of Glycosylation, Type Iio; CDG2O
OMIM:616829 Congenital Disorder of Glycosylation, Type Iip; CDG2P
OMIM:617395 Congenital Disorder of Glycosylation, Type Iiq; CDG2Q
OMIM:301045 Congenital Disorder of Glycosylation, Type Iir; CDG2R
OMIM:618885 Congenital Disorder of Glycosylation, Type Iit; CDG2T
OMIM:619525 Congenital Disorder of Glycosylation, Type Iiw; CDG2W
OMIM:620200 Congenital Disorder of Glycosylation, Type Iiy; CDG2Y
OMIM:620201 Congenital Disorder of Glycosylation, Type Iiz; CDG2Z
OMIM:608093 Congenital Disorder of Glycosylation, Type IJ; CDG1J
OMIM:608540 Congenital Disorder of Glycosylation, Type IK; CDG1K
OMIM:608776 Congenital Disorder of Glycosylation, Type IL: Cdg1l
OMIM:610768 Congenital Disorder of Glycosylation, Type Im; CDG1M
OMIM:612015 Congenital Disorder of Glycosylation, Type In; CDG1N
OMIM:613661 Congenital Disorder of Glycosylation, Type Ip; CDG1P
OMIM:612379 Congenital Disorder of Glycosylation, Type Iq; CDG1Q
OMIM:614507 Congenital Disorder of Glycosylation, Type Ir; CDG1R
OMIM:614921 Congenital Disorder of Glycosylation, Type It; CDG1T
OMIM:615042 Congenital Disorder of Glycosylation, Type Iu; CDG1U
OMIM:619714 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant;
OMIM:615596 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive;
OMIM:615597 Congenital Disorder of Glycosylation, Type IX; CDG1X
OMIM:300934 Congenital Disorder of Glycosylation, Type Iy; CDG1Y
OMIM:618005 Congenital Disorder of Glycosylation with Defective Fucosylation 1;
OMIM:618324 Congenital Disorder of Glycosylation with Defective Fucosylation 2;
OMIM:617364 Congenital Heart Defects and Ectodermal Dysplasia; CHDED
OMIM:617602 Congenital Heart Defects and Skeletal Malformations Syndrome; CHDSKM
OMIM:617360 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; CHDFIDD
OMIM:217085 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly;
OMIM:614980 Congenital Heart Defects, Multiple Types, 2; CHTD2
OMIM:614954 Congenital Heart Defects, Multiple Types, 3; CHTD3
OMIM:615779 Congenital Heart Defects, Multiple Types, 4; CHTD4
OMIM:617912 Congenital Heart Defects, Multiple Types, 5; CHTD5
OMIM:613854 Congenital Heart Defects, Multiple Types, 6; CHTD6
OMIM:618780 Congenital Heart Defects, Multiple Types, 7; CHTD7
OMIM:619657 Congenital Heart Defects, Multiple Types, 8, with or without Heterotaxy; CHTD8
OMIM:620294 Congenital Heart Defects, Multiple Types, 9; CHTD9
OMIM:308050 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
OMIM:618494 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies; CHEDDA
OMIM:612918 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
OMIM:614399 Congenital Myopathy 10a, Severe Variant; CMYO10A
OMIM:620249 Congenital Myopathy 10b, Mild Variant; CMYO10B
OMIM:619967 Congenital Myopathy 11; CMYO11
OMIM:612540 Congenital Myopathy 12; CMYO12
OMIM:255995 Congenital Myopathy 13; CMYO13
OMIM:618414 Congenital Myopathy 14; CMYO14
OMIM:620161 Congenital Myopathy 15; CMYO15
OMIM:618524 Congenital Myopathy 16; CMYO16
OMIM:618975 Congenital Myopathy 17; CMYO17
OMIM:620246 Congenital Myopathy 18; CMYO18
OMIM:618578 Congenital Myopathy 19; CMYO19
OMIM:117000 Congenital Myopathy 1a, Autosomal Dominant, with Susceptibility to Malignant Hyperthermia; CMYO1A
OMIM:255320 Congenital Myopathy 1b, Autosomal Recessive; CMYO1B
OMIM:620310 Congenital Myopathy 20; CMYO20
OMIM:620326 Congenital Myopathy 21 with Early Respiratory Failure; CMYO21
OMIM:620351 Congenital Myopathy 22a, Classic; CMYO22A
OMIM:620369 Congenital Myopathy 22b, Severe Fetal; CMYO22B
OMIM:609285 Congenital Myopathy 23; CMYO23
OMIM:617336 Congenital Myopathy 24; CMYO24
OMIM:620964 Congenital Myopathy 25; CMYO25
OMIM:161800 Congenital Myopathy 2a, Typical, Autosomal Dominant; CMYO2A
OMIM:620265 Congenital Myopathy 2b, Severe Infantile, Autosomal Recessive; CMYO2B
OMIM:620278 Congenital Myopathy 2c, Severe Infantile, Autosomal Dominant; CMYO2C
OMIM:602771 Congenital Myopathy 3 with Rigid Spine; CMYO3
OMIM:255310 Congenital Myopathy 4a, Autosomal Dominant; CMYO4A
OMIM:609284 Congenital Myopathy 4b, Autosomal Recessive; CMYO4B
OMIM:611705 Congenital Myopathy 5 with Cardiomyopathy; CMYO5
OMIM:605637 Congenital Myopathy 6 with Ophthalmoplegia; CMYO6
OMIM:608358 Congenital Myopathy 7a, Myosin Storage, Autosomal Dominant; CMYO7A
OMIM:255160 Congenital Myopathy 7b, Myosin Storage, Autosomal Recessive; CMYO7B
OMIM:618654 Congenital Myopathy 8; CMYO8
OMIM:618822 Congenital Myopathy 9a; CMYO9A
OMIM:618823 Congenital Myopathy 9b, Proximal, with Minicore Lesions; CMYO9B
OMIM:615237 Congenital Short Bowel Syndrome; CSBS
OMIM:620470 Congenital Smooth Muscle Hamartoma, with or without Hemihypertrophy;
OMIM:217095 Conotruncal Heart Malformations; CTHM
OMIM:217100 Constricting Bands, Congenital
OMIM:121050 Contractural Arachnodactyly, Congenital; CCA
OMIM:217150 Contractures, Congenital, Torticollis, and Malignant Hyperthermia
OMIM:178110 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A;
OMIM:618469 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B;
OMIM:602066 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis;
OMIM:217200 Convulsive Disorder, Familial, with Prenatal or Early Onset
OMIM:121270 Copper Deficiency, Familial Benign
OMIM:121300 Coproporphyria, Hereditary; HCP
OMIM:608158 CoQ-Responsive Oxphos Deficiency
OMIM:121350 Coracoclavicular Joint, Anomalous
OMIM:121390 Cornea Guttata with Anterior Polar Cataracts
OMIM:217520 Corneal Degeneration, Band-Shaped Spheroid
OMIM:121450 Corneal Degeneration, Ribbonlike, with Deafness
OMIM:217400 Corneal Dystrophy and Perceptive Deafness; CDPD
OMIM:607541 Corneal Dystrophy, Avellino Type; CDA
OMIM:217500 Corneal Dystrophy, Band-Shaped
OMIM:610048 Corneal Dystrophy, Congenital Stromal; CSCD
OMIM:300779 Corneal Dystrophy, Endothelial, X-Linked; XECD
OMIM:121820 Corneal Dystrophy, Epithelial Basement Membrane; EBMD
OMIM:121850 Corneal Dystrophy, Fleck; CFD
OMIM:136800 Corneal Dystrophy, Fuchs Endothelial, 1; FECD1
OMIM:610158 Corneal Dystrophy, Fuchs Endothelial, 2; FECD2
OMIM:613267 Corneal Dystrophy, Fuchs Endothelial, 3; FECD3
OMIM:613268 Corneal Dystrophy, Fuchs Endothelial, 4; FECD4
OMIM:613269 Corneal Dystrophy, Fuchs Endothelial, 5; FECD5
OMIM:613270 Corneal Dystrophy, Fuchs Endothelial, 6; FECD6
OMIM:613271 Corneal Dystrophy, Fuchs Endothelial, 7; FECD7
OMIM:615523 Corneal Dystrophy, Fuchs Endothelial, 8; FECD8
OMIM:204870 Corneal Dystrophy, Gelatinous Drop-Like; GDLD
OMIM:121900 Corneal Dystrophy, Groenouw Type I; CDGG1
OMIM:122200 Corneal Dystrophy, Lattice Type I; CDL1
OMIM:608471 Corneal Dystrophy, Lattice Type IIIA; CDL3A
OMIM:620763 Corneal Dystrophy, Lisch Epithelial; LECD
OMIM:122100 Corneal Dystrophy, Meesmann, 1; MECD1
OMIM:618767 Corneal Dystrophy, Meesmann, 2; MECD2
OMIM:612868 Corneal Dystrophy, Posterior Amorphous; PACD
OMIM:122000 Corneal Dystrophy, Posterior Polymorphous, 1; PPCD1
OMIM:609140 Corneal Dystrophy, Posterior Polymorphous, 2; PPCD2
OMIM:609141 Corneal Dystrophy, Posterior Polymorphous, 3; PPCD3
OMIM:618031 Corneal Dystrophy, Posterior Polymorphous, 4; PPCD4
OMIM:619871 Corneal Dystrophy, Punctiform and Polychromatic Pre-Descemet; PPPCD
OMIM:608470 Corneal Dystrophy, Reis-Bucklers Type; CDRB
OMIM:612867 Corneal Dystrophy, Subepithelial Mucinous; SMCD
OMIM:602082 Corneal Dystrophy, Thiel-Behnke Type; CDTB
OMIM:217700 Corneal Endothelial Dystrophy; CHED
OMIM:122450 Corneal Hypesthesia, Familial
OMIM:121400 Cornea Plana 1, Autosomal Dominant; CNA1
OMIM:217300 Cornea Plana 2, Autosomal Recessive; CNA2
OMIM:122470 Cornelia De Lange Syndrome 1; CDLS1
OMIM:300590 Cornelia De Lange Syndrome 2; CDLS2
OMIM:610759 Cornelia De Lange Syndrome 3 with or without Midline Brain Defects;
OMIM:614701 Cornelia De Lange Syndrome 4 with or without Midline Brain Defects;
OMIM:300882 Cornelia De Lange Syndrome 5; CDLS5
OMIM:620568 Cornelia De Lange Syndrome 6; CDLS6
OMIM:122440 Corneodermatoosseous Syndrome
OMIM:608320 Coronary Artery Disease, Autosomal Dominant, 1; ADCAD1
OMIM:610947 Coronary Artery Disease, Autosomal Dominant 2; ADCAD2
OMIM:122455 Coronary Artery Dissection, Spontaneous
OMIM:607339 Coronary Heart Disease, Susceptibility to, 1
OMIM:608316 Coronary Heart Disease, Susceptibility to, 2
OMIM:300464 Coronary Heart Disease, Susceptibility to, 3
OMIM:608318 Coronary Heart Disease, Susceptibility to, 4
OMIM:608901 Coronary Heart Disease, Susceptibility to, 5
OMIM:614466 Coronary Heart Disease, Susceptibility to, 6; CHDS6
OMIM:610938 Coronary Heart Disease, Susceptibility to, 7; CHDS7
OMIM:611139 Coronary Heart Disease, Susceptibility to, 8; CHDS8
OMIM:612030 Coronary Heart Disease, Susceptibility to, 9; CHDS9
OMIM:217990 Corpus Callosum, Agenesis of
OMIM:300004 Corpus Callosum, Agenesis of, with Abnormal Genitalia
OMIM:616819 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia; CCAFCA
OMIM:217980 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
OMIM:300472 Corpus Callosum, Agenesis of, with Impaired Intellectual Development, Ocular Coloboma, and Micrognathia
OMIM:304100 Corpus Callosum, Partial Agenesis of, X-Linked
OMIM:218010 Cortical Blindness, Retardation, and Postaxial Polydactyly
OMIM:604922 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
OMIM:618677 Cortical Dysplasia, Complex, with Other Brain Malformations 10;
OMIM:620156 Cortical Dysplasia, Complex, with Other Brain Malformations 11;
OMIM:620316 Cortical Dysplasia, Complex, with Other Brain Malformations 12;
OMIM:614563 Cortical Dysplasia, Complex, with Other Brain Malformations 13;
OMIM:606854 Cortical Dysplasia, Complex, with Other Brain Malformations 14a (bilateral Frontoparietal); CDCBM14A
OMIM:615752 Cortical Dysplasia, Complex, with Other Brain Malformations 14b (bilateral Perisylvian); CDCBM14B
OMIM:618737 Cortical Dysplasia, Complex, with Other Brain Malformations 15;
OMIM:614039 Cortical Dysplasia, Complex, with Other Brain Malformations 1; CDCBM1
OMIM:615282 Cortical Dysplasia, Complex, with Other Brain Malformations 2; CDCBM2
OMIM:615411 Cortical Dysplasia, Complex, with Other Brain Malformations 3; CDCBM3
OMIM:615412 Cortical Dysplasia, Complex, with Other Brain Malformations 4; CDCBM4
OMIM:615763 Cortical Dysplasia, Complex, with Other Brain Malformations 5; CDCBM5
OMIM:615771 Cortical Dysplasia, Complex, with Other Brain Malformations 6; CDCBM6
OMIM:610031 Cortical Dysplasia, Complex, with Other Brain Malformations 7; CDCBM7
OMIM:618174 Cortical Dysplasia, Complex, with Other Brain Malformations 9; CDCBM9
OMIM:614115 Cortical Malformations, Occipital; OCCM
OMIM:611489 Corticosteroid-Binding Globulin Deficiency
OMIM:203400 Corticosterone Methyloxidase Type I Deficiency
OMIM:610600 Corticosterone Methyloxidase Type II Deficiency
OMIM:604931 Cortisone Reductase Deficiency 1; CORTRD1
OMIM:614662 Cortisone Reductase Deficiency 2; CORTRD2
OMIM:218040 Costello Syndrome; CSTLO
OMIM:122580 Costocoracoid Ligament, Congenitally Short
OMIM:122700 Coumarin Resistance
OMIM:260660 Cousin Syndrome
OMIM:158350 Cowden Syndrome 1; CWS1
OMIM:615107 Cowden Syndrome 4; CWS4
OMIM:615108 Cowden Syndrome 5; CWS5
OMIM:615109 Cowden Syndrome 6; CWS6
OMIM:616858 Cowden Syndrome 7; CWS7
OMIM:122750 Coxa Vara
OMIM:122780 Coxoauricular Syndrome
OMIM:120050 Coxsackievirus B3 Susceptibility; CXB3S
OMIM:218050 Cramps, Familial Adolescent
OMIM:218090 Crane-Heise Syndrome
OMIM:620469 Cranial Dysinnervation Disorder, Congenital, with Absent Corneal Reflex and Developmental Delay; CCDDRD
OMIM:218100 Cranial Nerves, Congenital Paresis of
OMIM:218200 Cranial Nerves, Recurrent Paresis of
OMIM:122850 Cranioacrofacial Syndrome
OMIM:122860 Craniodiaphyseal Dysplasia, Autosomal Dominant; CDD
OMIM:218300 Craniodiaphyseal Dysplasia; CDD
OMIM:218330 Cranioectodermal Dysplasia 1; CED1
OMIM:613610 Cranioectodermal Dysplasia 2; CED2
OMIM:614099 Cranioectodermal Dysplasia 3; CED3
OMIM:614378 Cranioectodermal Dysplasia 4; CED4
OMIM:608227 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
OMIM:614195 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome; CAASDS
OMIM:122880 Craniofacial-Deafness-Hand Syndrome; CDHS
OMIM:213980 Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1; CFSMR1
OMIM:616994 Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2; CFSMR2
OMIM:122900 Craniofacial Dysostosis with Diaphyseal Hyperplasia
OMIM:218350 Craniofacial Dyssynostosis with Short Stature
OMIM:164210 Craniofacial Microsomia 1; CFM1
OMIM:620444 Craniofacial Microsomia 2; CFM2
OMIM:114620 Craniofaciofrontodigital Syndrome
OMIM:300712 Craniofacioskeletal Syndrome
OMIM:304110 Craniofrontonasal Syndrome; CFNS
OMIM:607812 Craniolenticulosutural Dysplasia; CLSD
OMIM:269300 Craniometadiaphyseal Dysplasia; CRMDD
OMIM:620558 Craniometadiaphyseal Osteosclerosis with Hip Dysplasia; CMDOH
OMIM:123000 Craniometaphyseal Dysplasia, Autosomal Dominant; CMDD
OMIM:218400 Craniometaphyseal Dysplasia, Autosomal Recessive; CMDR
OMIM:602558 Craniomicromelic Syndrome
OMIM:123050 Craniorhiny
OMIM:218450 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis
OMIM:123100 Craniosynostosis 1; CRS1
OMIM:604757 Craniosynostosis 2; CRS2
OMIM:615314 Craniosynostosis 3; CRS3
OMIM:600775 Craniosynostosis 4; CRS4
OMIM:615529 Craniosynostosis 5, Susceptibility To; CRS5
OMIM:616602 Craniosynostosis 6; CRS6
OMIM:617439 Craniosynostosis 7; CRS7
OMIM:600593 Craniosynostosis, Adelaide Type; CRSA
OMIM:614188 Craniosynostosis and Dental Anomalies; CRSDA
OMIM:608432 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
OMIM:218650 Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
OMIM:606529 Craniosynostosis Syndrome, Autosomal Recessive
OMIM:218530 Craniosynostosis with Anomalies of the Cranial Base and Digits
OMIM:603595 Craniosynostosis with Ectopia Lentis
OMIM:218550 Craniosynostosis with Fibular Aplasia
OMIM:608279 Craniosynostosis with Ocular Abnormalities and Hallucal Defects
OMIM:218670 Craniotelencephalic Dysplasia
OMIM:619727 Craniotubular Dysplasia, Ikegawa Type; CTDI
OMIM:602472 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age
OMIM:123320 Creatine Phosphokinase, Elevated Serum
OMIM:606851 Cree Impaired Intellectual Development Syndrome
OMIM:123400 Creutzfeldt-Jakob Disease; CJD
OMIM:123450 Cri-Du-Chat Syndrome
OMIM:218800 Crigler-Najjar Syndrome, Type I
OMIM:606785 Crigler-Najjar Syndrome, Type II
OMIM:272430 Crisponi/Cold-Induced Sweating Syndrome 1; CISS1
OMIM:610313 Crisponi/Cold-Induced Sweating Syndrome 2; CISS2
OMIM:218900 Crome Syndrome
OMIM:123500 Crouzon Syndrome
OMIM:612247 Crouzon Syndrome with Acanthosis Nigricans; CAN
OMIM:605945 Crumpled Helices and Small Mouth
OMIM:123540 Cryofibrinogenemia, Familial Primary
OMIM:123550 Cryoglobulinemia, Familial Mixed
OMIM:185020 Cryohydrocytosis; CHC
OMIM:123560 Cryptomicrotia-Brachydactyly Syndrome
OMIM:123570 Cryptophthalmos, Unilateral or Bilateral, Isolated; CRYPTOP
OMIM:219050 Cryptorchidism, Unilateral or Bilateral
OMIM:123557 Cryptotia, Familial
OMIM:211750 C Syndrome
OMIM:300471 Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
OMIM:615849 Culler-Jones Syndrome; CJS
OMIM:607656 Curly Hair-Acral Keratoderma-Caries Syndrome
OMIM:176450 Currarino Syndrome
OMIM:601707 Curry-Jones Syndrome; CRJS
OMIM:219070 Curved Nail of Fourth Toe
OMIM:248910 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia
OMIM:219095 Cutaneous Photosensitivity and Colitis, Lethal
OMIM:614564 Cutaneous Telangiectasia and Cancer Syndrome, Familial; FCTCS
OMIM:123700 Cutis Laxa, Autosomal Dominant 1; ADCL1
OMIM:614434 Cutis Laxa, Autosomal Dominant 2; ADCL2
OMIM:616603 Cutis Laxa, Autosomal Dominant 3; ADCL3
OMIM:219100 Cutis Laxa, Autosomal Recessive, Type IA; ARCL1A
OMIM:614437 Cutis Laxa, Autosomal Recessive, Type IB; ARCL1B
OMIM:613177 Cutis Laxa, Autosomal Recessive, Type Ic; ARCL1C
OMIM:620780 Cutis Laxa, Autosomal Recessive, Type ID; ARCL1D
OMIM:219200 Cutis Laxa, Autosomal Recessive, Type IIA; ARCL2A
OMIM:612940 Cutis Laxa, Autosomal Recessive, Type IIB; ARCL2B
OMIM:617402 Cutis Laxa, Autosomal Recessive, Type IIC; ARCL2C
OMIM:617403 Cutis Laxa, Autosomal Recessive, Type Iid; ARCL2D
OMIM:619451 Cutis Laxa, Autosomal Recessive, Type Iie; ARCL2E
OMIM:219150 Cutis Laxa, Autosomal Recessive, Type IIIA; ARCL3A
OMIM:614438 Cutis Laxa, Autosomal Recessive, Type IIIB; ARCL3B
OMIM:614100 Cutis Laxa, Neonatal, with Marfanoid Phenotype
OMIM:219250 Cutis Marmorata Telangiectatica Congenita; CMTC
OMIM:219300 Cutis Verticis Gyrata and Impaired Intellectual Development
OMIM:304200 Cutis Verticis Gyrata, Thyroid Aplasia, and Impaired Intellectual Development
OMIM:219400 Cyanosis and Hepatic Disease
OMIM:613977 Cyanosis, Transient Neonatal; TNCY
OMIM:162800 Cyclic Neutropenia
OMIM:500007 Cyclic Vomiting Syndrome; CVS
OMIM:132700 Cylindromatosis, Familial
OMIM:123853 Cyprus Facial Neuromusculoskeletal Syndrome
OMIM:219500 Cystathioninuria
OMIM:219550 Cysteine Peptiduria
OMIM:610203 Cysteine-Rich Pak1 Inhibitor; CRIPAK
OMIM:123880 Cystic Angiomatosis of Bone, Diffuse
OMIM:219700 Cystic Fibrosis; CF
OMIM:603855 Cystic Fibrosis, Modifier of, 1; CFM1
OMIM:219721 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Impaired Intellectual Development
OMIM:219750 Cystinosis, Adult Nonnephropathic
OMIM:219900 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
OMIM:219800 Cystinosis, Nephropathic; CTNS
OMIM:220100 Cystinuria
OMIM:618954 Cytochrome P450, Family 4, Subfamily Z, Member 2, Pseudogene; CYP4Z2P
OMIM:122720 Cytochrome P450, Subfamily IIA, Polypeptide 6; CYP2A6
OMIM:124060 Cytochrome P450, Subfamily I, Polypeptide 2; CYP1A2
OMIM:609162 Czech Dysplasia
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory