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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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A
Disorder Name Genes Alternate Names OMIM Inheritance
Ataxia-Telangiectasia ATM Louis-Bar syndrome, AT1 208900 autosomal recessive
Autoinflammation with Arthritis and Dyskeratosis NLRP1 AIADK 617388 ?
Axenfeld-Rieger Anomaly, Plus ? De Hauwere syndrome 109120 autosomal dominant?
Axenfeld-Rieger Syndrome, Type 1 PITX2 RGS, Rieger anomaly, anterior chamber cleavage syndrome, RIEG1, Rieger syndrome type 1 180500 autosomal dominant
Axenfeld-Rieger Syndrome, Type 2 13q14 locus Rieger syndrome, type 2, RIEG2 601499 autosomal dominant
Axenfeld-Rieger Syndrome, Type 3 FOXC1 Axenfeld anomaly, Rieger anomaly, RIEG3, Rieger syndrome type 3 602482 autosomal dominant
Axenfeld-Rieger Syndrome, Type 4 PRDM5 RIEG4 autosomal dominant
Ayme-Gripp Syndrome MAF AYGRP 601088 autosomal dominant
B
Disorder Name Genes Alternate Names OMIM Inheritance
Baker-Gordon Syndrome SYT1 BAGOS 618218 autosomal dominant
Baller-Gerold Syndrome RECQL4 craniosynostosis with radial defects, craniosynostosis-radial aplasia syndrome 218600 autosomal recessive
Baraitser-Winter Syndrome 1 ACTB BRWS1 243310 autosomal dominant
Baraitser-Winter Syndrome 2 ACTG1 BRWS2 614583 autosomal dominant?
Barber-Say Syndrome TWIST2 hypertrichosis atrophic skin ectropion and macrostomia syndrome 209885 autosomal dominant
Bardet-Biedl Syndromes multiple BBS 209900 autosomal recessive
Basal Cell Nevus Syndrome PTCH1 Gorlin syndrome, BCNS, Gorlin-Goltz syndrome, NBCCS, nevoid basal cell carcinoma syndrome 109400 autosomal dominant
Basel-Vanagaite-Smirin-Yosef Syndrome MED25 BVSYS 616449 autosomal recessive
Beare-Stevenson Syndrome FGFR2 cutis gyrata syndrome of Beare and Stevenson 123790 autosomal dominant?
Behcet-Like Familial Autoinflammatory Syndrome TNFAIP3 AISBL, Behcet-like syndrome 616744 autosomal dominant
Behr Early Onset Optic Atrophy Syndromes OPA3 Behr syndrome, Behr infantile hereditary optic atrophy, optic atrophy plus syndrome, Costeff syndrome, OPA3 210000, 258501 autosomal recessive
Behr Syndrome OPA1 Infantile Hereditary Optic Atrophy with Neurologic Abnormalities, BEHRS 210000 autosomal recessive
Biemond Syndrome II ? Biemond syndrome II 210350 autosomal dominant?
Bietti Crystalline Corneoretinal Dystrophy CYP4V2 Bietti tapetoretinal degeneration with marginal corneal dystrophy, BCD 210370 autosomal recessive
Birk-Landau-Perez Syndrome SLC30A9 BILAPES 617595 autosomal recessive
Blatt Distichiasis 126300 autosomal dominant
Blepharocheilodontic Syndrome 1 CDH1 BCDS, Elschning syndrome, BCD syndrome 119580 autosomal dominant
Blepharocheilodontic Syndrome 2 CTNND1 BCDS2 617681 autosomal dominant
Blepharoptosis, Myopia, Ectopia Lentis ? 110150 autosomal dominant
Blue Cone Monochromacy OPN1LW CBBM, blue cone monochromatism, BCM, cone dystrophy 5' 303700 X-linked recessive
Blue Diaper Syndrome ? familial hypercalcemia with nephrocalcinosis and indicanuria, Drummond syndrome 211000 autosomal recessive?
Bornholm Eye Disease Xq28 locus BED, X-linked myopia, high myopia with nonprogressive cone dysfunction 300843 X-linked recessive
Bosma Arhinia Microphthalmia Syndrome SMCHD1 BAMS, arihina choanal atresia microphthalmia and hypogonadotropic hypogonadism 603457 autosomal dominant
BPES Syndrome FOXL2, KAT6B BPES 110100 autosomal dominant
Branchiooculofacial Syndrome TFAP2A BOFS, BOF syndrome 113620 autosomal dominant
Brittle Cornea Syndrome 1 ZNF469 type VIB Ehlers-Danlos syndrome, EDS VIB, EDS6B, BCS1 229200 autosomal recessive
Brittle Cornea Syndrome 2 PRDM5 BCS2 614170 autosomal recessive
Brown-Vialetto-Van Laere Syndrome 2 SLC52A2 BVVLS2 614707 autosomal recessive
C
Disorder Name Genes Alternate Names OMIM Inheritance
Canavan Disease ASPA Canavan-van Gogaert-Bertrand disease, spongy degeneration of central nervous system, aspartoacylase deficiency, ASPA deficiency, ASP deficiency, ACY2 deficiency, aminoacylase 2 deficiency 271900 autosomal recessive
Carey-Fineman-Ziter Syndrome MYMK congenital nonprogressive myopathy with Moebius and Robin sequences, CFZS 254940 autosomal recessive
Carpenter Syndrome RAB23 acrocephalopolysyndactyly type II, ACPS II 201000 autosomal recessive
Cataracts 13, Congenital, in Adult i RBC Phenotype GCNT2 GCNT2, CTRCT13 116700 autosomal recessive
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