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??? 5 6 7 8 9 10 11 12 13 14 15

Disease	Synonyms	Description
autosomal recessive limb-girdle muscular dystrophy type 2E	Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscul.. [+] Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2E [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. [-]
neuronal ceroid lipofuscinosis 3	Batten disease; CLN3; juvenile neuronal ceroid lip.. [+] Batten disease; CLN3; juvenile neuronal ceroid lipofuscinosis [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. [-]
neurodegeneration with brain iron accumulation 5	BPAN; Beta-Propeller Protein-Associated Neurodegen.. [+] BPAN; Beta-Propeller Protein-Associated Neurodegeneration; NBIA5; SENDA; Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. [-]
Sugarman brachydactyly	brachydactyly with major proximal phalangeal short.. [+] brachydactyly with major proximal phalangeal shortening [-]	A brachydactyly characterized by a nonarticulating..[+] A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. [-]
African iron overload	Bantu siderosis; iron overload in Africa	A hemochromatosis characterized by a predispositio..[+] A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. [-]
gray platelet syndrome	BDPLT4; GPS; platelet alpha-granule deficiency; pl.. [+] BDPLT4; GPS; platelet alpha-granule deficiency; platelet-type bleeding disorder 4 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. [-]
platelet-type bleeding disorder 9	BDPLT9; collagen platelet receptor deficiency; gly.. [+] BDPLT9; collagen platelet receptor deficiency; glycoprotein Ia deficiency; GP Ia deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. [-]
platelet-type bleeding disorder 10	BDPLT10; CD36 deficiency; platelet glycoprotein IV.. [+] BDPLT10; CD36 deficiency; platelet glycoprotein IV deficiency [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. [-]
platelet-type bleeding disorder 14	BDPLT14; thromboxane synthase deficiency	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. [-]
platelet-type bleeding disorder 19	BDPLT19; severe autosomal recessive macrothrombocy.. [+] BDPLT19; severe autosomal recessive macrothrombocytopenia [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21 [-]
platelet-type bleeding disorder 17	BDPLT17; hereditary thrombasthenia-thrombocytopeni.. [+] BDPLT17; hereditary thrombasthenia-thrombocytopenia [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. [-]
Quebec platelet disorder	BDPLT5; factor V Quebec; platelet-type bleeding di.. [+] BDPLT5; factor V Quebec; platelet-type bleeding disorder 5 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. [-]
platelet-type bleeding disorder 18	bleeding disorder due to CalDAG-GEFI deficiency; b.. [+] bleeding disorder due to CalDAG-GEFI deficiency; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency; BDPLT18 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. [-]
Scott syndrome	bleeding abnormality due to deficiency of platelet.. [+] bleeding abnormality due to deficiency of platelet biding of factor X; BDPLT7; familial prothrombin consumption inhibitor; familial prothrombin conversion defect; platelet-type bleeding disorder 7; prothrombin consumption deficiency; SCTS [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. [-]
platelet-type bleeding disorder 15	BDPLT15; autosomal dominant macrothrombocytopenia .. [+] BDPLT15; autosomal dominant macrothrombocytopenia ACTN1-related [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. [-]
platelet-type bleeding disorder 20	BDPLT20; autosomal dominant thrombocytopenia with .. [+] BDPLT20; autosomal dominant thrombocytopenia with platelet secretion defect [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. [-]
platelet-type bleeding disorder 3	BDPLT3; platelet type-von Willebrand disease; pseu.. [+] BDPLT3; platelet type-von Willebrand disease; pseudo-von Willebrand disease; PT-VWD; von Willebrand disease platelet-type [-]	A blood platelet disease characterized by enhanced..[+] A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. [-]
platelet-type bleeding disorder 11	BDPLT11; glycoprotein VI deficiency; GP VI deficie.. [+] BDPLT11; glycoprotein VI deficiency; GP VI deficiency [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. [-]
platelet-type bleeding disorder 12	BDPLT12; PGHS1 deficiency; platelet COX1 deficienc.. [+] BDPLT12; PGHS1 deficiency; platelet COX1 deficiency; platelet cyclooxygenase 1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. [-]
congenital generalized lipodystrophy type 1	Brunzell syndrome AGPAT2-related; BSCL1; Berardine.. [+] BSCL1; Brunzell syndrome AGPAT2-related; Berardinelli-Seip Congenital Lipodystrophy, Type 1; CGL1 [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. [-]
congenital generalized lipodystrophy type 2	Berardinelli-Seip syndrome; Brunzell syndrome BSCL.. [+] Berardinelli-Seip syndrome; Brunzell syndrome BSCL2-related; Berardinelli-Seip congenital lipodystrophy type 2; CGL2; congenital lipoatrophic diabetes; total lipodystrophy and acromegaloid gigantism [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. [-]
congenital generalized lipodystrophy type 3	BSCL3; Berardinelli-Seip congenital lipodystrophy .. [+] BSCL3; Berardinelli-Seip congenital lipodystrophy type 3; CGL3 [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. [-]
congenital generalized lipodystrophy type 4	Brunzell syndrome AGPAT2-related; BSCL4; Berardine.. [+] BSCL4; Brunzell syndrome AGPAT2-related; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; CGL4; GCL4; generalized congenital lipodystrophy type 4; generalized congenital lipodystrophy with myopathy [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of PTRF on chromosome 17q21.2. [-]
subcortical band heterotopia	band heterotopia; double cortex syndrome; HeCo; he.. [+] band heterotopia; double cortex syndrome; HeCo; heterotopic cortex; subcortical laminar heterotopia [-]	A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. [-]
Kaufman oculocerebrofacial syndrome	blepharophimosis ptosis intellectual disability sy.. [+] blepharophimosis ptosis intellectual disability syndrome; KOS; oculocerebrofacial syndrome, Kaufman type [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in the UBE3B gene on chromosome 12q24.11. [-]
spondyloepiphyseal dysplasia Maroteaux type	Brachyolmia Type 2; Pseudo-Morquio syndrome type 2.. [+] Brachyolmia Type 2; Pseudo-Morquio syndrome type 2; SED, Maroteaux type; spondyloepiphyseal dysplasia of Maroteaux [-]	An osteochondrodysplasia characterized by dysplast..[+] An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
familial erythrocytosis 6	beta-globin type polycythemia; beta-globin type er.. [+] beta-globin type polycythemia; beta-globin type erythrocytosis; ECYT6 [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. [-]
familial adult myoclonic epilepsy	benign adult familial myoclonus epilepsy; benign a.. [+] benign adult familial myoclonus epilepsy; benign adult familial myoclonic epilepsy; BAFME; FAME; familial cortical myoclonic tremor and epilepsy; FCMTE [-]	An adolescence-adult electroclinical syndrome char..[+] An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. [-]
familial adult myoclonic epilepsy 1	benign adult familial myoclonic epilepsy 1; BAFME1.. [+] benign adult familial myoclonic epilepsy 1; BAFME1; FAME1; familial cortical myoclonic tremor and epilepsy 1; FCMTE1 [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. [-]
familial adult myoclonic epilepsy 7	benign adult familial myoclonic epilepsy 7; BAFME7.. [+] benign adult familial myoclonic epilepsy 7; BAFME7; FAME7; familial cortical myoclonic tremor and epilepsy 7; FCMTE7 [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. [-]
X-linked thrombocytopenia with beta-thalassemia	beta-thalassemia-X-linked thrombocytopenia syndrom.. [+] beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; XLTT [-]	A hematopoietic system disease characterized by va..[+] A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. [-]

???pagination.result.page??? ???pagination.result.prev??? 5 6 7 8 9 10 11 12 13 14 15