DAG1 - dystroglycan 1 Gene

Also Known as A3a; DAG; AGRNR; 156DAG; MDDGA9; MDDGC7; MDDGC9; LGMDR16

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 1605

About DAG1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,468,948-49,535,615 (from NCBI)

This gene has 19 transcripts (splice variants), 268 orthologues and is associated with 5 phenotypes. Ubiquitous expression in placenta (RPKM 41.6), heart (RPKM 23.5) and 24 other tissues.

Summary

This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the Cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]

DAG1 Products (26)

mRNA Protein Name
NM_001165928.4 NP_001159400.3 dystroglycan 1 preproprotein
NM_001177634.3 NP_001171105.2 dystroglycan 1 preproprotein
NM_001177635.3 NP_001171106.2 dystroglycan 1 preproprotein
NM_001177636.3 NP_001171107.2 dystroglycan 1 preproprotein
NM_001177637.3 NP_001171108.2 dystroglycan 1 preproprotein
NM_001177638.3 NP_001171109.2 dystroglycan 1 preproprotein
NM_001177639.3 NP_001171110.2 dystroglycan 1 preproprotein
NM_001177640.3 NP_001171111.2 dystroglycan 1 preproprotein
NM_001177641.3 NP_001171112.2 dystroglycan 1 preproprotein
NM_001177642.3 NP_001171113.2 dystroglycan 1 preproprotein
NM_001177643.3 NP_001171114.2 dystroglycan 1 preproprotein
NM_001177644.3 NP_001171115.2 dystroglycan 1 preproprotein
NM_004393.6 NP_004384.5 dystroglycan 1 preproprotein
NM_001165928.4 NP_001159400.3 dystroglycan 1 preproprotein
NM_001177634.3 NP_001171105.2 dystroglycan 1 preproprotein
NM_001177635.3 NP_001171106.2 dystroglycan 1 preproprotein
NM_001177636.3 NP_001171107.2 dystroglycan 1 preproprotein
NM_001177637.3 NP_001171108.2 dystroglycan 1 preproprotein
NM_001177638.3 NP_001171109.2 dystroglycan 1 preproprotein
NM_001177639.3 NP_001171110.2 dystroglycan 1 preproprotein
NM_001177640.3 NP_001171111.2 dystroglycan 1 preproprotein
NM_001177641.3 NP_001171112.2 dystroglycan 1 preproprotein
NM_001177642.3 NP_001171113.2 dystroglycan 1 preproprotein
NM_001177643.3 NP_001171114.2 dystroglycan 1 preproprotein
NM_001177644.3 NP_001171115.2 dystroglycan 1 preproprotein
NM_004393.6 NP_004384.5 dystroglycan 1 preproprotein
Molecular Function GO Annotation Evidence 参考文献 由来
enables SH2 domain binding IDA
IDA: Inferred from direct assay
11724572 GOA
enables actin binding IDA
IDA: Inferred from direct assay
18341635 GOA
enables alpha-actinin binding IDA
IDA: Inferred from direct assay
18341635 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9417121 GOA
enables structural constituent of muscle IMP
IMP: Inferred from mutant phenotype
18691338 GOA
enables tubulin binding IDA
IDA: Inferred from direct assay
18341635 GOA
enables vinculin binding IPI
IPI: Inferred from physical interaction
18341635 GOA
enables virus receptor activity IDA
IDA: Inferred from direct assay
22156524 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in membrane protein ectodomain proteolysis IDA
IDA: Inferred from direct assay
19946898 GOA
involved in microtubule anchoring IMP
IMP: Inferred from mutant phenotype
18341635 GOA
involved in negative regulation of MAPK cascade IMP
IMP: Inferred from mutant phenotype
19587235 GOA
involved in negative regulation of cell migration IMP
IMP: Inferred from mutant phenotype
19587235 GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
IMP: Inferred from mutant phenotype
19587235 GOA
involved in positive regulation of basement membrane assembly involved in embryonic body morphogenesis IMP
IMP: Inferred from mutant phenotype
23940118 GOA
involved in regulation of epithelial to mesenchymal transition IMP
IMP: Inferred from mutant phenotype
23940118 GOA
involved in regulation of gastrulation IMP
IMP: Inferred from mutant phenotype
23940118 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in basement membrane IDA
IDA: Inferred from direct assay
19348877 GOA
located in contractile ring IDA
IDA: Inferred from direct assay
18341635 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
18764929 GOA
part of dystrophin-associated glycoprotein complex IDA
IDA: Inferred from direct assay
17993586 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
18201566 GOA
located in filopodium IDA
IDA: Inferred from direct assay
18341635 GOA
colocalizes with focal adhesion IDA
IDA: Inferred from direct assay
18341635 GOA
located in lamellipodium IDA
IDA: Inferred from direct assay
18341635 GOA
located in membrane IDA
IDA: Inferred from direct assay
17628813 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
18764929 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
8017170 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DAG1 Protein Structure

DAG1

DAG1: Dystroglycan (Dystrophin-associated glycoprotein 1) (607 - 895)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 895 a.a.
Protein Preferred Names Protein Names

dystroglycan 1

  • dystroglycan 1 (dystrophin-associated glycoprotein 1)

DAG1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Cross
DAG1 Q14118 Ank3 Rattus norvegicus Q3T1J5 19109891
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DAG1 Proteins

製品番号 製品名 アクセッション番号 純度
HY-P75311 DAG1 Protein, Human (HEK293, His) Q14118 (H30-V749) ≥ 95%, as determined by reducing SDS-PAGE.

DAG1 抗体

製品番号 製品名 アプリケーション 反応性
HY-P83006 beta-Dystroglycan Antibody (YA2751) WB Human, Mouse
HY-P83006A beta-Dystroglycan Antibody (YA2751)(PBS only) WB Human
HY-P83716 Alpha-dystroglycan Antibody WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

関連疾患

Diseases Alias
Muscular Dystrophy-Dystroglycanopathy , Type C, 9
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p

  • Lgmd2p

  • MDDGC9

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16

  • Lgmdr16

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related

  • Muscular Dystrophy, Limb-Girdle, Type 2p

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related

  • Muscular Dystrophy-Dystroglycanopathy Type C9

  • Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16

  • Alpha-Dystroglycan-Related Lgmd R16

  • Lgmd Type 2p

  • Limb-Girdle Muscular Dystrophy Type 2p

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9

  • Muscular Dystrophy Limb-Girdle Type 2p

  • Dystrophy, Muscular, Limb-Girdle, Type 2p

Muscular Dystrophy-Dystroglycanopathy , Type A, 9
  • MDDGA9

  • Walker-Warburg Syndrome Or Muscle-Eye Brain Disease, Dag1-Related

  • Muscular Dystrophy-Dystroglycanopathy , Type A9

  • Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy

  • Meb Disease With Bilateral Multicystic Leucodystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A9

  • Dystrophy, Muscular, Dystroglycanopathy , Type A9

Walker-Warburg Syndrome
  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A

Lassa Fever
  • Lf

  • Lassa Hemorrhagic Fever

  • Lf - [Lassa Fever]

Lymphocytic Choriomeningitis
  • Lcm

  • Lymphocytic Meningitis

  • Lymphocytic Choriomeningitis Virus Encephalomyelitis

  • Lymphocytic Meningoencephalitis

  • Non-Arthropod Borne Lymphocytic Choriomeningitis

  • Lcm - [Lymphocytic Choriomeningitis]

  • Benign Lymphocytic Meningitis

  • Meningitis Due To Lymphocytic Choriomeningitis Virus

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Muscle Eye Brain Disease
  • Muscle-Eye-Brain Disease

  • Muscle-Eye-Brain Syndrome

  • Meb

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

  • Meb Syndrome

  • Santavuori Congenital Muscular Dystrophy

Isolated Elevated Serum Creatine Phosphokinase Levels
  • Elevated Serum Cpk

  • Idiopathic Hyperckemia

  • Isolated Hyperckemia

  • Elevated Serum Creatine Phosphokinase

  • H-Ck

  • Idiopathic Persistent Elevation Of Serum Creatine Kinase

Cobblestone Lissencephaly
  • Lissencephaly Type 2

  • Lissencephaly, Cobblestone

Creatine Phosphokinase, Elevated Serum
  • Hyperckemia, Idiopathic

  • Cpk, Elevated Serum

  • Hyperckmia

  • HYPCK

Muscular Dystrophy-Dystroglycanopathy
  • Cmd Due To Dystroglycanopathy

  • Congenital Muscular Dystrophy Due To Dystroglycanopathy

  • Mddg

  • Dystrophy, Muscular, Dystroglycanopathy

Muscular Dystrophy, Congenital, Lmna-Related
  • Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Due To Lmna Mutation

  • MDCL

  • L-Cmd

  • Lmna-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital

  • Congenital Muscular Dystrophy Lmna-Related

  • Lmna-Related Cmd

  • Cmd

  • Mdc

  • Muscular Dystrophy Congenital Lmna-Related

  • Dystrophy, Muscular, Congenital, Lmna-Related

  • Dystrophy, Muscular, Congenital

  • Hereditary Muscular Dystrophy

  • Congenital Hereditary Muscular Dystrophy

  • Congenital Progressive Muscular Dystrophy

  • Hereditary Progressive Muscular Dystrophy

Cardiomyopathy, Dilated, 1d
  • Dilated Cardiomyopathy 1d

  • CMD1D

  • Left Ventricular Noncompaction 6, Included

  • Lvnc6, Included

  • Left Ventricular Noncompaction 6

  • Cardiomyopathy, Dilated 1d

Muscular Dystrophy, Congenital Merosin-Deficient, 1a
  • MDC1A

  • Lama2-Related Muscular Dystrophy

  • Atrophie Blanche

  • Muscular Dystrophy, Congenital Merosin-Deficient

  • Congenital Merosin-Deficient Muscular Dystrophy 1a

  • Merosin-Negative Congenital Muscular Dystrophy

  • Muscular Dystrophy White Matter Spongiosis

  • Merosin Deficient Congenital Muscular Dystrophy

  • Muscular Dystrophy Congenital, Merosin Negative

  • Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient

  • Cmd1a

  • Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

  • Congenital Muscular Dystrophy Type 1a

  • Laminin Alpha-2 Deficiency

  • Merosin-Deficient Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital, Merosin-Deficient

  • Lama2 Md

  • Laminin Alpha 2 Deficiency

  • Laminin Alpha-2 Deficient Muscular Dystrophy

  • Merosin-Deficient Muscular Dystrophy

  • Muscular Dystrophy Due To Lama2 Deficiency

  • Merosin-Deficient Congenital Muscular Dystrophy 1a

  • Cardiomyopathy, Familial Idiopathic

Muscular Dystrophy-Dystroglycanopathy , Type C, 14
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t

  • Lgmd2t

  • MDDGC14

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19

  • Lgmdr19

  • Muscular Dystrophy Limb-Girdle Type 2t

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related

  • Muscular Dystrophy, Limb-Girdle, Type 2t

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related

  • Muscular Dystrophy-Dystroglycanopathy Type C14

  • Gmppb-Related Limb-Girdle Muscular Dystrophy R19

  • Gmppb-Related Lgmd R19

  • Lgmd Type 2t

  • Limb-Girdle Muscular Dystrophy Type 2t

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14

  • Dystrophy, Muscular, Limb-Girdle, Type 2t

Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5

  • Mddga5

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related

Muscular Dystrophy-Dystroglycanopathy , Type B, 1
  • MDDGB1

  • Muscular Dystrophy-Dystroglycanopathy , Type B1

  • Muscular Dystrophy, Congenital, Pomt1-Related

  • Muscular Dystrophy-Dystroglycanopathy Type B1

  • Cmd Due To Dystroglycanopathy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1

  • Muscular Dystrophy Congenital Pomt1-Related

  • Muscular Dystrophy-Dystroglycanopathy

  • Dystrophy, Muscular, Dystroglycanopathy , Type B1

Congenital Muscular Dystrophy-Dystroglycanopathy A14
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14

  • Mddga14

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related

  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14

Lissencephaly
  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria

Myocarditis
  • Myocardial Inflammation

  • Inflammatory Cardiomyopathy

Muscular Dystrophy-Dystroglycanopathy , Type C, 1
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

  • Lgmd2k

  • MDDGC1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11

  • Lgmdr11

  • Muscular Dystrophy, Limb-Girdle, Type 2k

  • Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome

  • Limb-Girdle Muscular Dystrophy Type 2k

  • Muscular Dystrophy Limb-Girdle Type 2k

  • Muscular Dystrophy-Dystroglycanopathy Type C 1

  • Pomt1-Related Limb-Girdle Muscular Dystrophy R11

  • Lgmd Type 2k

  • Pomt1-Related Lgmd R11

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1

  • Dystrophy, Muscular, Limb-Girdle, Type 2k

  • Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1

Congenital Muscular Dystrophy-Dystroglycanopathy Type A
  • Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

  • Mddga

  • Klissencephaly Type 2 With Muscular And Ocular Involvement

  • Lissencephaly Type 2 With Muscular And Ocular Involvement

Muscular Dystrophy-Dystroglycanopathy , Type C, 2
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n

  • Lgmd2n

  • MDDGC2

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14

  • Lgmdr14

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related

  • Limb-Girdle Muscular Dystrophy Type 2n

  • Muscular Dystrophy, Limb-Girdle, Type 2n

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related

  • Muscular Dystrophy-Dystroglycanopathy Type C 2

  • Pomt2-Related Limb-Girdle Muscular Dystrophy R14

  • Lgmd Type 2n

  • Pomt2-Related Lgmd R14

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2

  • Mdgd2c

  • Dystrophy, Muscular, Limb-Girdle, Type 2n

Brazilian Hemorrhagic Fever
  • Sabia Hemorrhagic Fever

Venezuelan Hemorrhagic Fever
  • Guanarito Hemorrhagic Fever

  • Vehf - [Venezuelan Haemorrhagic Fever]

Nonaka Myopathy
  • Gne Myopathy

  • Hibm

  • Distal Myopathy With Rimmed Vacuoles

  • Hereditary Inclusion Body Myopathy

  • Ibm2

  • Inclusion Body Myopathy, Quadriceps-Sparing

  • Qsm

  • Dmrv

  • Distal Myopathy, Nonaka Type

  • Inclusion Body Myopathy 2

  • Inclusion Body Myopathy, Autosomal Recessive

  • NM

  • Nonaka Distal Myopathy

  • Myopathy, Distal, With Or Without Rimmed Vacuoles

  • Inclusion Body Myopathy, Hereditary, Autosomal Recessive

  • Inclusion Body Myopathy Type 2

  • Quadriceps-Sparing Myopathy

  • Quadriceps Sparing Myopathy

  • Rimmed Vacuole Myopathy

  • Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

  • Ibm2, Formerly

  • Hibm2

  • Hereditary Inclusion Body Myopathy Type 2

  • Inclusion Body Myopathy 2, Autosomal Recessive

  • Myopathy, Distal, With Rimmed Vacuoles

  • Inclusion Body Myopathy Autosomal Recessive

  • Myopathy, Inclusion Body, Type 2

  • Myopathy, Nonaka

Muscular Dystrophy, Congenital, 1b
  • MDC1B

  • Congenital Muscular Dystrophy 1b

  • Cmd1b

  • Congenital Muscular Dystrophy Type 1b

  • Familial Dilated Cardiomyopathy

Bolivian Hemorrhagic Fever
  • Machupo Hemorrhagic Fever

  • Hemorrhagic Fever, Bolivian

  • Bhf - [Bolivian Haemorrhagic Fever]

  • Machupo Haemorrhagic Fever

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1

  • Mddga1

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy , Type B, 6
  • Muscular Dystrophy-Dystroglycanopathy Type B6

  • MDDGB6

  • Mdc1d

  • Muscular Dystrophy, Congenital, Type 1d

  • Congenital Muscular Dystrophy Type 1d

  • Dystrophy, Muscular, Dystroglycanopathy , Type B6

  • Muscular Dystrophy, Congenital, Large-Related

  • Congenital Muscular Dystrophy Large-Related

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6

  • Muscular Dystrophy Large-Related

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
  • Lgmd2b

  • Muscular Dystrophy, Limb-Girdle, Type 2b

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

  • Beta-Sarcoglycanopathy

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

  • Muscular Dystrophy, Limb-Girdle, Type 3

  • Lgmd3

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

  • LGMDR2

  • Muscular Dystrophy, Limb-Girdle, Type 2s

  • Limb-Girdle Muscular Dystrophy Type 2b

  • Lgmd2e

  • Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2e

  • Lgmd2s

  • Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

  • Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

  • Lgmd2y

  • Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

  • Muscular Dystrophy, Limb-Girdle, Type 2y

  • Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

  • Dysferlin-Related Lgmd R2

  • Lgmd Due To Dysferlin Deficiency

  • Lgmd Type 2b

  • Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

  • Limb-Girdle Muscular Dystrophy 2b

  • Limb-Girdle Muscular Dystrophy, Type 2b

  • Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

  • Dystrophy, Muscular, Limb-Girdle, Type 2b

  • Limb-Girdle Muscular Dystrophy, Type 2e

Cardiomyopathy, Dilated, 1x
  • Dilated Cardiomyopathy 1x

  • CMD1X

  • Dilated Cardiomyopathy With Mild Or No Proximal Muscle Weakness

  • Cardiomyopathy, Dilated, With Mild Or No Proximal Muscle Weakness

  • Cardiomyopathy, Dilated 1x

  • Cardiomyopathy, Dilated, Type 1x

Muscular Dystrophy-Dystroglycanopathy , Type B, 5
  • Mdc1c

  • Muscular Dystrophy-Dystroglycanopathy Type B5

  • MDDGB5

  • Muscular Dystrophy, Congenital, 1c

  • Muscular Dystrophy, Congenital, Fkrp-Related

  • Congenital Muscular Dystrophy 1c

  • Fkrp-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5

  • Muscular Dystrophy Congenital Type 1c

  • Muscular Dystrophy Fkrp-Related

Muscular Dystrophy-Dystroglycanopathy , Type C, 4
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m

  • Lgmd2m

  • MDDGC4

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13

  • Lgmdr13

  • Muscular Dystrophy, Limb-Girdle, Type 2m

  • Muscular Dystrophy-Dystroglycanopathy Type C 4

  • Fukutin-Related Limb-Girdle Muscular Dystrophy R13

  • Autosomal Recessive Lgmd Type 2m

  • Fukutin-Related Lgmd R13

  • Lgmd Type 2m

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4

  • Limb-Girdle Muscular Dystrophy Type 2m

  • Mdgd4c

  • Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c

  • Dystrophy, Muscular, Limb-Girdle, Type 2m

Cardiomyopathy, Dilated, 3b
  • Dilated Cardiomyopathy 3b

  • CMD3B

  • X-Linked Dilated Cardiomyopathy

  • Xlcm

  • Dmd-Associated Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated, X-Linked

  • Dmd-Related Dilated Cardiomyopathy

  • Xldc

  • Cardiomyopathy, Dilated, X-Linked 3b

  • Cardiomyopathy, Dilated, Type 3b

Limb-Girdle Muscular Dystrophy
  • Lgmd

  • Limb Girdle Muscular Dystrophy

  • Muscular Dystrophies, Limb-Girdle

  • Erb'S Muscular Dystrophy

  • Leyden-Mbius Muscular Dystrophy

  • Limb-Girdle Syndrome

  • Myopathic Limb-Girdle Syndrome

  • Limb Girdle

  • Muscular Dystrophy Limb-Girdle

  • Dystrophy, Muscular, Limb-Girdle

  • Lgmd - [Limb-Girdle Muscular Dystrophy]

  • Limb Girdle Muscle Dystrophy

  • Limb-Girdle Myopathy

Argentine Hemorrhagic Fever
  • Argentinian Hemorrhagic Fever

  • Junin Hemorrhagic Fever

  • Hemorrhagic Fever, Argentinian

  • Ahf - [Argentinian Haemorrhagic Fever]

  • Argentine Haemorrhagic Fever

  • Junin Haemorrhagic Fever

Muscular Dystrophy-Dystroglycanopathy , Type A, 4
  • Fukuyama Congenital Muscular Dystrophy

  • Fcmd

  • MDDGA4

  • Fukuyama Type Congenital Muscular Dystrophy

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

  • Cerebromuscular Dystrophy, Fukuyama Type

  • Fukuyama Cmd

  • Fukuyama Muscular Dystrophy

  • Fukuyama Syndrome

  • Muscular Dystrophy, Congenital Progressive, With Mental Retardation

  • Muscular Dystrophy, Congenital, Fukuyama Type

  • Muscular Dystrophy, Congenital, With Central Nervous System Involvement

  • Polymicrogyria With Muscular Dystrophy

  • Congenital Muscular Dystrophy, Fukuyama Type

  • Fktn-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

  • Cerebromuscular Dystrophy Fukuyama Type

  • Congenital Muscular Dystrophy Fukuyama Type

  • Micropolygyria With Muscular Dystrophy

  • Muscle-Eye-Brain Disease Fktn-Related

  • Walker-Warburg Syndrome Fktn-Related

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
  • Limb-Girdle Muscular Dystrophy 21

Muscular Dystrophy-Dystroglycanopathy , Type C, 5
  • Lgmd2i

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i

  • MDDGC5

  • Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency

  • Limb-Girdle Muscular Dystrophy Type 2i

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9

  • Lgmdr9

  • Muscular Dystrophy, Limb-Girdle, Type 2i

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related

  • Fkrp-Related Limb-Girdle Muscular Dystrophy R9

  • Fkrp-Related Lgmd R9

  • Lgmd Due To Fkrp Deficiency

  • Lgmd Type 2i

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related

  • Muscular Dystrophy Limb-Girdle Type 2i

  • Muscular Dystrophy-Dystroglycanopathy Type C 5

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5

  • Dystrophy, Muscular, Limb-Girdle, Type 2i

Muscular Dystrophy, Duchenne Type
  • Duchenne Muscular Dystrophy

  • DMD

  • Muscular Dystrophy, Duchenne

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

  • Severe Dystrophinopathy, Duchenne Type

  • Muscular Dystrophy Duchenne

  • Dystrophy, Muscular, Duchenne Type

  • Benign Duchenne Muscular Dystrophy

  • Duchenne Motor Neuron Disease

  • Duchenne Type Dystrophy

  • Duchenne-Griesinger Disease

Miyoshi Muscular Dystrophy
  • Distal Myopathy

  • Distal Muscular Dystrophy

  • Miyoshi Myopathy

  • Distal Myopathies

  • Dystrophy, Muscular, Miyoshi

  • Myopathy, Distal

  • Distal Muscular Dystrophies

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
  • Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1

  • Deficiency Of Sarcoglycan Gamma

  • Dmda1

  • Gamma-Sarcoglycanopathy

  • Lgmd2c

  • Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency

  • Maghrebian Myopathy

  • Muscular Dystrophy, Limb-Girdle, Type 2c

  • Scarmd

  • Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
  • Alpha-Sarcoglycanopathy

  • Dmda2

  • Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2

  • Lgmd2d

  • Muscular Dystrophy, Limb-Girdle, Type 2d

  • Primary Adhalinopathy

Muscular Dystrophy, Becker Type
  • Becker Muscular Dystrophy

  • BMD

  • Benign Pseudohypertrophic Muscular Dystrophy

  • Benign Congenital Myopathy

  • Becker Dystrophinopathy

  • Becker'S Muscular Dystrophy

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Becker

  • Dystrophy, Muscular, Becker Type

  • Dystrophinopathy

  • Becker Dystrophy

  • Becker Type Dystrophy

  • Bmd - [Becker Muscular Dystrophy]

Muscle Tissue Disease
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11

  • Mddga11

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related

  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
  • Delta-Sarcoglycanopathy

  • Lgmd2f

  • Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency

  • Limb-Girdle Muscular Dystrophy Type 2f

Muscular Dystrophy-Dystroglycanopathy , Type C, 3
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o

  • MDDGC3

  • Lgmd2o

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15

  • Lgmdr15

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related

  • Muscular Dystrophy, Limb-Girdle, Type 2o

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related

  • Muscular Dystrophy-Dystroglycanopathy Type C3

  • Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15

  • Lgmd Type 2o

  • Limb-Girdle Muscular Dystrophy Type 2o

  • Pomgnt1-Related Lgmd R15

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3

  • Dystrophy, Muscular, Limb-Girdle, Type 2o

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
  • Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency

  • Muscular Dystrophy, Congenital, Due To Itga7 Deficiency

  • Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency

  • Congenital Muscular Dystrophy With Itga7 Deficiency

  • Congenital Myopathy Due To Integrin Alpha-7 Deficiency

  • Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency

  • Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency

  • MDCI

  • Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency

Bethlem Myopathy 1
  • Bethlem Myopathy

  • Myopathy, Benign Congenital, With Contractures

  • Muscular Dystrophy, Benign Congenital

  • BTHLM1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

  • Lgmdd5

  • Benign Congenital Muscular Dystrophy

  • Benign Autosomal Dominant Myopathy

  • Myopathy, Bethlem

  • Myopathy, Bethlem, Type 1

Lujo Hemorrhagic Fever
  • Zambian Hemorrhagic Fever

Immunodeficiency 47
  • Congenital Disorder Of Glycosylation Type Ii

  • CDG2E

  • Congenital Disorder Of Glycosylation Type Iie

  • IMD47

  • Cdg2s

  • Cdg Iis

  • Cdgiis

  • Immunodeficiency And Hepatopathy With Or Without Neurologic Features

  • Congenital Disorder Of Glycosylation, Type Ii

  • CDG1I

  • Congenital Disorder Of Glycosylation, Type Iie

  • Cdg Iie

  • Congenital Disorder Of Glycosylation Type 2e

  • Congenital Disorder Of Glycosylation, Type Iis

  • Cdg Ii

  • Cdgii

  • Cdgiie

  • Carbohydrate Deficient Glycoprotein Syndrome Type Iie

  • Cdg Syndrome Type Iie

  • Congenital Disorder Of Glycosylation Ii

  • Congenital Disorder Of Glycosylation 1i

  • Cdg-Iie

  • Alg2-Cdg

  • Cdg-Ii

  • Glycosylation, Congenital Disorder Of, Type Ii

  • Cdgiide

  • Congenital Disorder Of Glycosylation Type Iis

  • Cog7-Cdg

  • Cdg Syndrome Type Ii

  • Carbohydrate Deficient Glycoprotein Syndrome Type Ii

  • Congenital Disorder Of Glycosylation Type 1i

  • Mannosyltransferase 2 Deficiency

  • Congenital Disorder Of Glycosylation 2e

  • Congenital Disorder Of Glycosylation 2s

  • Congenital Disorders Of Glycosylation Type Ii

  • Glycosylation, Congenital Disorder Of, Type Iie

  • Immunodeficiency, Type 47

  • Congenital Disorder Of Glycosylation Type 2a

Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
  • Leyden-Moebius Muscular Dystrophy

  • Lgmd2a

  • Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2a

  • Pelvofemoral Muscular Dystrophy

  • Primary Calpainopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
  • Lgmd2l

  • Muscular Dystrophy, Limb-Girdle, Type 2l

Muscular Disease
Arrhythmogenic Right Ventricular Cardiomyopathy
  • Arrhythmogenic Right Ventricular Dysplasia

  • Arvc

  • Arvd

  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  • Arvc Cardiomyopathy

  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

  • Arvd/C

  • Right Ventricular Dysplasia, Arrhythmogenic

  • Ventricular Dysplasia, Right, Arrhythmogenic

  • Cardiomyopathy, Ventricular, Right, Arrhythmogenic

  • Dysplasia, Arrhythmogenic Right Ventricular

Myopathy
  • Muscular Diseases

  • Myopathies

Hydrophthalmos
Ullrich Congenital Muscular Dystrophy 1
  • Ullrich Congenital Muscular Dystrophy

  • Ullrich Disease

  • Ucmd

  • Ullrich Scleroatonic Muscular Dystrophy

  • Scleroatonic Muscular Dystrophy

  • UCMD1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

  • Lgmdr22

  • Muscular Dystrophy, Scleroatonic

  • Late Onset Scleroatonic Familial Myopathy

  • Congenital Muscular Dystrophy, Ullrich Type

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
  • Lgmd2b

  • Lgmd3

  • Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

  • Limb-Girdle Muscular Dystrophy Type 3

  • Muscular Dystrophy, Limb-Girdle, Type 2b

Glaucoma 3, Primary Congenital, A
  • Buphthalmos

  • Glaucoma, Congenital

  • Congenital Glaucoma

  • Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset

  • GLC3A

  • Glc3

  • Buphthalmia

  • Primary Congenital Glaucoma

  • Glaucoma, Primary Open Angle, Juvenile-Onset

  • Simple Buphthalmos

  • Buphthalmus

  • Glaucoma, Primary Open Angle, Adult-Onset

  • Primary Congenital Glaucoma 3a

  • Primary Infantile Glaucoma Type 3a

  • Glaucoma 3a, Primary Congenital

  • Glaucoma, Congenital, Primary, Type 3a

  • Hydrophthalmos

  • Cystic Eyeball

Inner Ear Disease
  • Labyrinthine Dysfunction

  • Diseases Of Inner Ear

  • Labyrinthine Disease

  • Abnormality Of The Inner Ear

  • Labyrinth Diseases

  • Labyrinthine Disorder

  • Nonfunctioning Labyrinth

  • Labyrinthine Loss Of Function

  • Labyrinthine Syndrome

  • Labyrinthine Disorder Nos

Physical Disorder
  • Physical Illness

Focal Segmental Glomerulosclerosis
  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Focal Glomerulosclerosis

  • Fsgs

  • Segmental Glomerulosclerosis

  • Glomerulosclerosis, Focal Segmental

  • Fgs

  • Focal Glomerular Sclerosis

  • Familial Idiopathic Nephrotic Syndrome

  • Focal Sclerosis With Hyalinosis

  • Glomerulosclerosis, Focal

  • Glomerulosclerosis Focal

  • Glomerulosclerosis, Segmental, Focal

  • Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Rigid Spine Muscular Dystrophy 1
  • Rigid Spine Syndrome

  • RSMD1

  • Rss

  • Mdrs1

  • Eichsfeld Type Congenital Muscular Dystrophy

  • Desmin-Related Myopathy With Mallory Bodies

  • Classic Multiminicore Myopathy

  • Sepn1-Related Myopathy

  • Multicore Myopathy, Severe Classic Form

  • Minicore Myopathy, Severe Classic Form

  • Multiminicore Disease, Severe Classic Form

  • Muscular Dystrophy, Rigid Spine, 1

  • Classic Mmd

  • Classic Multiminicore Disease

  • Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

  • Desmin-Related Myopathy With Mallory Body-Like Inclusions

  • Early-Onset Desmin-Related Myopathy

  • Myopathy, Sepn1-Related

  • Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

  • Muscular Dystrophy, Congenital, Eichsfeld Type

  • Severe Classic Form Minicore Myopathy

  • Severe Classic Form Multicore Myopathy

  • Severe Classic Form Multiminicore Disease

  • Desmin-Related Myopathies With Mallory Bodies

  • Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

  • Rigid Spine Muscular Dystrophy-1

  • Rigid Spine Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Eichsfeld Type

  • Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

  • Minicore Myopathy Severe Classic Form

  • Multicore Myopathy Severe Classic Form

  • Multiminicore Disease Severe Classic Form

  • Dystrophy, Muscular, Rigid Spine, Type 1

Neuromuscular Junction Disease
  • Neuromuscular Junction Diseases

Gas Gangrene
  • Myonecrosis

  • Gas Bacillus Infection

  • Gas Gangrene Due To Clostridia

  • Clostridial Myonecrosis

  • Clostridial Cellulitis

Fragile X Syndrome
  • FXS

  • Martin-Bell Syndrome

  • Fraxa Syndrome

  • Marker X Syndrome

  • X-Linked Mental Retardation And Macroorchidism

  • Fragile X Mental Retardation Syndrome

  • Fra Syndrome

  • Mental Retardation, X-Linked, Associated With Marxq28

  • X-Linked Intellectual Disability And Macroorchidism

  • Frax Syndrome

  • Symptomatic Form Of Fragile X Syndrome In Female Carriers

  • Fragile-X Syndrome

  • Fraxe Syndrome

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Cardiomyopathy, Dilated, 1g
  • Dilated Cardiomyopathy 1g

  • CMD1G

  • Cardiomyopathy, Dilated 1g

  • Cardiomyopathy, Dilated, Type 1g

Peters-Plus Syndrome
  • Krause-Kivlin Syndrome

  • Peters Plus Syndrome

  • Peters Anomaly

  • Irido-Corneo-Trabecular Dysgenesis

  • PTRPLS

  • Peters Anomaly With Short-Limb Dwarfism

  • Peters Anomaly-Short Limb Dwarfism Syndrome

  • Peters Anomaly With Short Limb Dwarfism

  • Peters Congenital Glaucoma

  • Krause-Van Schooneveld-Kivlin Syndrome

  • Peters' Plus Syndrome

  • Peters'-Plus Syndrome

  • Anomaly Peters

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Congenital Disorder Of Glycosylation, Type In
  • Congenital Disorder Of Glycosylation

  • CDG1N

  • Congenital Disorders Of Glycosylation

  • Cdg In

  • Cdgin

  • Congenital Disorder Of Glycosylation 1n

  • Carbohydrate-Deficient Glycoprotein Syndrome

  • Cdg

  • Rft1-Cdg

  • Cdg-In

  • Congenital Disorder Of Glycosylation Type In

  • Carbohydrate Deficient Glycoprotein Syndrome

  • Cdg Syndrome

  • Congenital Disorder Of Glycosylation In

  • Carbohydrate-Deficient Glycoprotein Syndromes

  • Cdg Syndrome Type In

  • Carbohydrate Deficient Glycoprotein Syndrome Type In

  • Congenital Disorder Of Glycosylation Type 1n

  • Man5glcnac2-Pp-Dol Flippase Deficiency

  • Glycosylation, Congenital Disorder Of

  • Glycosylation, Congenital Disorder Of, Type In

Congenital Fiber-Type Disproportion
  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Rattus norvegicus DAG1 RGD RGD:621890
Bos taurus DAG1 VGNC VGNC:27871
Macaca mulatta DAG1 VGNC VGNC:71728
Felis catus DAG1 VGNC VGNC:102572
Canis familiaris DAG1 VGNC VGNC:39763
Mus musculus DAG1 MGD MGI:101864
Others DAG1 NCBI