Echinobase

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Echinobase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11

Disease	Synonyms	Description	Articles	Phenotypes
restrictive cardiomyopathy 2	familial restrictive cardiomyopathy 2; RCM2	A restrictive cardiomyopathy that has_material_bas..[+] A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. [-]
distal arthrogryposis type 2B	Freeman-Sheldon syndrome variant; DA2B; Sheldon-Ha.. [+] Freeman-Sheldon syndrome variant; DA2B; Sheldon-Hall syndrome [-]	A distal arthrogryposis characterized by contractu..[+] A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. [-]
ectodermal dysplasia 8	Fried's tooth and nail syndrome; ECTD8; ectodermal.. [+] Fried's tooth and nail syndrome; ECTD8; ectodermal dysplasia 8, hair/tooth/nail type [-]	An ectodermal dysplasia characterized by hypotrich..[+] An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. [-]
X-linked cardiac valvular dysplasia	FLNA-related X-linked myxomatous valvular dysplasi.. [+] FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia; CVD1; Dystrophie valvulaire associee a FLNA; EDS 5; Ehlers-Danlos syndrome, type 5; XMVD [-]	A heart valve disease characterized by multivalvul..[+] A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. [-]
otopalatodigital syndrome type 2	faciopalatoosseous syndrome; Andre syndrome; OPD I.. [+] faciopalatoosseous syndrome; Andre syndrome; OPD II syndrome; OPD syndrome 2; OPD2; oto-palato-digital syndrome type 2; otopalatodigital syndrome type II [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. [-]
Uruguay faciocardiomusculoskeletal syndrome	FCMSU	A syndrome characterized by distinctive facial app..[+] A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. [-]
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	Fantasy Island syndrome; SED-BDS; SED-brachydactyl.. [+] Fantasy Island syndrome; SED-BDS; SED-brachydactyly and distinctive speech; spondyloepiphyseal dysplasia, Cantu type; Tattoo dysplasia [-]	A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. [-]

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11