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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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Disorder Name Genes Alternate Names OMIM Inheritance
Cataracts 34 FOXE3 CTRCT34, cataract 34 multiple types with or without microcornea 612968 autosomal recessive
Cataracts 43 UNC45B CTRCT43 616279 autosomal dominant
Cataracts 45 SIPA1L3 CTRCT45 616851 autosomal recessive
Cataracts 46, Juvenile-Onset LEMD2 juvenile cataract Hutterite type, CTRCT46 212500 autosomal recessive
Cataracts and Ichthyosis ? 212400 ?
Cataracts, Anterior Polar 2 17p13 locus CTAA2 601202 autosomal dominant
Cataracts, Anterior Polar with Guttata TMCO3 121390 autosomal dominant
Cataracts, Ataxia, Short Stature, and Mental Retardation Xpter-q13.1 locus CASH syndrome 300619 X-linked recessive
Cataracts, Congenital Cerulean CRYBB2, MAF, CRYGD, CCA5 blue dot congenital cataract, CCA1, CCA2, CCA3, CCA4, CCA5 115660, 601547, 608983, 610202, 614422 autosomal dominant
Cataracts, Congenital Nuclear CRYBB1, CRYBB3 CATCN1, CATCN2, CATCN3 609376, 609741, 611544 autosomal recessive
Cataracts, Congenital Sutural with Punctate and Cerulean Opacities CRYBB2 CSPC 607133 autosomal dominant
Cataracts, Congenital with Sclerocornea and Glaucoma PXDN Anterior Segment Dysgenesis 7, ASGD7 269400 autosomal recessive
Cataracts, Congenital Zonular Pulverulent 1 GJA8 CAE1, Duffy-linked cataract, CZP1, CZP, CTRCT1 116200 autosomal dominant
Cataracts, Congenital Zonular Pulverulent 3 GJA3 CZP3 601885 autosomal dominant
Cataracts, Congenital Zonular With Sutural Opacities CRYBA1 CCZS 600881 autosomal dominant
Cataracts, Congenital, and Hypomyelinating Leukodystrophy FAM126A hypomyelination and congenital cataract, HCC 610532 autosomal recessive
Cataracts, Congenital, Autosomal Dominant PAX6, BFSP2, MIP, GJA3 lens opacities 604219, 611597 autosomal dominant
Cataracts, Congenital, Autosomal Recessive 2 FYCO1 CATC2 610019 autosomal recessive
Cataracts, Congenital, Autosomal Recessive 3 1p34.3-p32.2 locus CATC3 612968 autosomal recessive
Cataracts, Congenital, Autosomal Recessive 4 TDRD7 CATC4 613887 autosomal recessive
Cataracts, Congenital, Autosomal Recessive 5 AGK CATC5 614691 autosomal recessive
Cataracts, Congenital, Deafness, Short Stature, Developmental Delay MAF Ayme-Gripp syndrome 601088 autosomal dominant
Cataracts, Congenital, Facial Dysmorphism, and Neuropathy CTDP1 CCFDN, congenital cataracts with facial dysmorphism and neuropathy 604168 autosomal recessive
Cataracts, Congenital, Intellectual Disability, Abnormal Striatum, and ADHD KCNA4 autosomal recessive
Cataracts, Congenital, Posterior Polar EPHA2 CTPP1, CTPA, CTPP, posterior polar cataract 116600 autosomal dominant
Cataracts, Congenital, Volkmann Type 1pter-p36.13 locus CCV, Volkmann type congenital cataract 115665 autosomal dominant
Cataracts, Congenital, with Brain Hemorrhage and Subependymal Calcification JAM3 613730 autosomal recessive
Cataracts, Congenital, with Cleft Palate ? autosomal dominant
Cataracts, Congenital, with Intellectual Disability STX3 autosomal recessive
Cataracts, Congenital, With Short Stature and Minor Skeletal Anomalies BRD4 autosomal dominant
Cataracts, Congenital, X-Linked NHS CXN, CCT, congenital total cataract with posterior sutural opacities in heterozygotes 302200, 302350 X-linked recessive
Cataracts, Coppock-Like CRYBB2, CRYGC, GJA3 CCL, Coppock-like cataract 604307 autosomal dominant
Cataracts, CRYAA Mutations CRYAA zonular central nuclear cataract, crystallin alpha-1, CRYAA, autosomal recessive congenital cataract 1, CATC1, autosomal dominant nuclear cataract, autosomal dominant nuclear with iris coloboma, autosomal dominant cataract with microcornea 123580 autosomal recessive, autosomal dominant
Cataracts, Growth Hormone Deficiency, and Skeletal Dysplasia IARS2 CAGSSS 616007 autosomal recessive
Cataracts, Hearing Loss, and Neurodegeneration SLC33A1 614482 autosomal recessive
Cataracts, Lamellar HSF4 zonular cataract, perinuclear cataract, Marner cataract, CAM, CTM 116800 autosomal dominant
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation EMC1 CAVIPMR 616875 autosomal recessive
Cerebral Amyloid Angiopathy ITM2B familial Danish dementia, FDD 117300 autosomal dominant
Cerebral Atrophy, Autosomal Recessive TMPRSS4 606565 autosomal recessive
Cerebral Cavernous Malformations KRIT1, CCM2/malcavernin, PDCD10 CAM, CCM, cerebral capillary malformations, familial cavernous angioma, cavernous angiomatous malformations 603284, 116860, 603285 autosomal dominant
Displaying 81 - 120 of 695