DES - desmin Gene

Also Known as CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1674

About DES

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,418,377-219,426,734 (from NCBI)

This gene has 5 transcripts (splice variants), 276 orthologues, 68 paralogues and is associated with 8 phenotypes. Biased expression in heart (RPKM 2605.8), esophagus (RPKM 953.7) and 6 other tissues.

Summary

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each Other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

DES Products (7)

mRNA Protein Name
NM_001382708.1 NP_001369637.1 desmin isoform 2
NM_001382709.1 NP_001369638.1 desmin isoform 3
NM_001382710.1 NP_001369639.1 desmin isoform 4
NM_001382711.1 NP_001369640.1 desmin isoform 5
NM_001382712.1 NP_001369641.1 desmin isoform 6
NM_001382713.1 NP_001369642.1 desmin isoform 7
NM_001927.4 NP_001918.3 desmin isoform 1
Molecular Function GO Annotation Evidence References Source
enables cytoskeletal protein binding IPI
IPI: Inferred from physical interaction
11309420 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
21135508 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11353857 GOA
Biological Process GO Annotation Evidence References Source
involved in intermediate filament organization IMP
IMP: Inferred from mutant phenotype
24200904 GOA
Cellular Component GO Annotation Evidence References Source
located in Z disc IDA
IDA: Inferred from direct assay
9415431 GOA
located in cardiac myofibril IDA
IDA: Inferred from direct assay
25771144 GOA
located in intercalated disc IDA
IDA: Inferred from direct assay
24200904 GOA
located in sarcolemma IDA
IDA: Inferred from direct assay
25394388 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

DES Protein Structure

Filament_head

Filament_head: Intermediate filament head (DNA binding) region (9 - 106)

Filament

Filament: Intermediate filament protein (107 - 415)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 470 a.a.
Protein Preferred Names Protein Names

desmin

  • cardiomyopathy, dilated 1F (autosomal dominant)

DES Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DES P17661 PIH1D2 Homo sapiens Q8WWB5 32296183
Intra
DES P17661 PIH1D2 Homo sapiens Q8WWB5 32296183
Intra
DES P17661 PIH1D2 Homo sapiens Q8WWB5 32296183
Intra
DES P17661 KRT37 Homo sapiens O76014 32296183
Intra
DES P17661 KRT37 Homo sapiens O76014 32296183
Intra
DES P17661 KRT33B Homo sapiens Q14525 32296183
Intra
DES P17661 KRT33B Homo sapiens Q14525 32296183
Intra
DES P17661 KRT33B Homo sapiens Q14525 32296183
Intra
DES P17661 JPH3 Homo sapiens Q8WXH2 32814053
Intra
DES P17661 JPH3 Homo sapiens Q8WXH2 32814053
Intra
DES P17661 JPH3 Homo sapiens Q8WXH2 32814053
Intra
DES P17661 VIM Homo sapiens P08670 27107012
Intra
DES P17661 PRPH Homo sapiens P41219 33961781
Intra
DES P17661 VIM Homo sapiens P08670 32296183
Intra
DES P17661 GFAP Homo sapiens P14136 32814053
Intra
DES P17661 NEFL Homo sapiens P07196
SLC
27107012
Intra
DES P17661 VIM Homo sapiens P08670 33961781
Intra
DES P17661 NEFL Homo sapiens P07196 32296183
Intra
DES P17661 PRPH Homo sapiens P41219 32814053
Intra
DES P17661 VIM Homo sapiens P08670 27107012
Intra
DES P17661 GFAP Homo sapiens P14136 32814053
Intra
DES P17661 PRPH Homo sapiens P41219 32296183
Intra
DES P17661 GFAP Homo sapiens P14136 32814053
Intra
DES P17661 VIM Homo sapiens P08670 32296183
Intra
DES P17661 PRPH Homo sapiens P41219 32814053
Intra
DES P17661 NEFL Homo sapiens P07196 33961781
Intra
DES P17661 NEFL Homo sapiens P07196 32296183
Intra
DES P17661 PRPH Homo sapiens P41219 32814053
Intra
DES P17661 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
DES P17661 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
DES P17661 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
DES P17661 DUX1 Homo sapiens O43812 26816005
Intra
DES P17661 DUX4 Homo sapiens Q9UBX2 26816005
Intra
DES P17661 NEK6 Homo sapiens Q9HC98-4 32296183
Intra
DES P17661 KRT13 Homo sapiens P13646 32296183
Intra
DES P17661 KRT13 Homo sapiens P13646 32296183
Intra
DES P17661 ZMYM5 Homo sapiens Q9UJ78-2 32296183
Intra
DES P17661 ZMYM5 Homo sapiens Q9UJ78-2 32296183
Intra
DES P17661 ZMYM5 Homo sapiens Q9UJ78-2 32296183
Intra
DES P17661 LBX1 Homo sapiens P52954 32296183
Intra
DES P17661 LBX1 Homo sapiens P52954 32296183
Intra
DES P17661 LBX1 Homo sapiens P52954 32296183
Intra
DES P17661 EHHADH Homo sapiens Q08426 25416956
Intra
DES P17661 EHHADH Homo sapiens Q08426 25416956
Intra
DES P17661 EHHADH Homo sapiens Q08426 32296183
Intra
DES P17661 EHHADH Homo sapiens Q08426 25416956
Intra
DES P17661 RNF4 Homo sapiens P78317 32296183
Intra
DES P17661 RNF4 Homo sapiens P78317 32296183
Intra
DES P17661 RNF4 Homo sapiens P78317 32296183
Intra
DES P17661 PPP1R18 Homo sapiens Q6NYC8 25416956
Intra
DES P17661 PPP1R18 Homo sapiens Q6NYC8 32296183
Intra
DES P17661 PPP1R18 Homo sapiens Q6NYC8 25416956
Intra
DES P17661 LONRF3 Homo sapiens Q496Y0 32296183
Intra
DES P17661 LMO4 Homo sapiens P61968 32296183
Intra
DES P17661 MTM1 Homo sapiens Q13496
Y2H
21135508
Intra
DES P17661 MTM1 Homo sapiens Q13496 21135508
Intra
DES P17661 MTM1 Homo sapiens Q13496 21135508
Intra
DES P17661 MTM1 Homo sapiens Q13496 21135508
Intra
DES P17661 MTM1 Homo sapiens Q13496 21135508
Intra
DES P17661 MTM1 Homo sapiens Q13496 21135508
Intra
DES P17661 MTM1 Homo sapiens Q13496 21135508
Intra
DES P17661 KRT75 Homo sapiens O95678 32296183
Intra
DES P17661 KRT75 Homo sapiens O95678 32296183
Intra
DES P17661 POLR2G Homo sapiens P62487 32296183
Intra
DES P17661 POLR2G Homo sapiens P62487 32296183
Intra
DES P17661 POLR2G Homo sapiens P62487 32296183
Intra
DES P17661 PIAS2 Homo sapiens O75928-2 32296183
Intra
DES P17661 PIAS2 Homo sapiens O75928-2 32296183
Intra
DES P17661 DDX6 Homo sapiens P26196 32296183
Intra
DES P17661 BAG5 Homo sapiens Q9UL15 32296183
Intra
DES P17661 HTT Homo sapiens P42858 32814053
Intra
DES P17661 HTT Homo sapiens P42858 32814053
Intra
DES P17661 HTT Homo sapiens P42858 32814053
Intra
DES P17661 CWF19L2 Homo sapiens Q2TBE0 32296183
Intra
DES P17661 GOLGA6L9 Homo sapiens A6NEM1 32296183
Intra
DES P17661 GOLGA6L9 Homo sapiens A6NEM1 32296183
Intra
DES P17661 CT55 Homo sapiens Q8WUE5 32296183
Intra
DES P17661 CT55 Homo sapiens Q8WUE5 32296183
Intra
DES P17661 CT55 Homo sapiens Q8WUE5 32296183
Intra
DES P17661 TCEA2 Homo sapiens Q15560 32296183
Intra
DES P17661 LENG1 Homo sapiens Q96BZ8 32296183
Intra
DES P17661 KRT15 Homo sapiens P19012 32296183
Intra
DES P17661 KRT15 Homo sapiens P19012 32296183
Intra
DES P17661 KRT15 Homo sapiens P19012 32296183
Intra
DES P17661 KRT20 Homo sapiens P35900 32296183
Intra
DES P17661 MLH1 Homo sapiens P40692 20706999
Intra
DES P17661 MLH1 Homo sapiens P40692 20706999
Intra
DES P17661 MLH1 Homo sapiens P40692
Y2H
20706999
Intra
DES P17661 MLH1 Homo sapiens P40692 20706999
Intra
DES P17661 C1orf216 Homo sapiens Q8TAB5 32296183
Intra
DES P17661 M1AP Homo sapiens Q8TC57 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DES Proteins

Cat. No. Product Name Accession Purity
HY-P70006 Desmin/DES Protein, Human (His) P17661 (V261-L470) ≥ 90%, as determined by reducing SDS-PAGE.

DES Antibodies

Cat. No. Product Name Application Reactivity
HY-P80103 Desmin Antibody (YA477) WB, ICC/IF, IHC-P, FC Human, Mouse, Rat
HY-P84139 Desmin Antibody (YA3836) WB, IHC-P, FC, ELISA Human, Mouse, Rat, Rabbit, Monkey
HY-P84139A Desmin Antibody (YA3836)(PBS only) WB, IHC-P, FC, ELISA Human, Mouse, Rat, Rabbit, Monkey
HY-P85911 Desmin Antibody (YA5603) IHC-P, WB, ICC/IF, ELISA Human, Mouse, Rat
HY-P86054 Desmin Antibody (YA5746) IHC-P, ELISA Human, Mouse, Rat
HY-P86114 Desmin Antibody (YA5806) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Myopathy, Myofibrillar, 1
  • Desmin-Related Myofibrillar Myopathy

  • Desmin-Related Myopathy

  • MFM1

  • Myopathy, Myofibrillar, Desmin-Related

  • Drm

  • Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

  • Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

  • Myofibrillar Myopathy 1

  • Desminopathy

  • Muscular Dystrophy, Limb-Girdle, Type 2r

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

  • Desminopathy, Primary

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

  • Arvd7, Formerly

  • Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

  • Arvc7, Formerly

  • Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

  • Ibm1, Formerly

  • Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly

  • Cmd1f And Lgmd1d, Formerly

  • Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

  • Cdcd3, Formerly

  • Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly

  • Lgmd2r, Formerly

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

  • Arrhythmogenic Right Ventricular Cardiomyopathy 7

  • Arvc7

  • Arvd7

  • Autosomal Dominant Inclusion Body Myopathy 1

  • Cdcd3

  • Cmd1f And Lgmd1d

  • Desminopathy Primary

  • Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d

  • Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

  • Familial Arrhythmogenic Right Ventricular Dysplasia 7

  • Lgmd2r

  • Limb-Girdle Muscular Dystrophy 2r

  • Mfm Desmin-Related

  • Myopathy Myofibrillar Desmin-Related

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

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
  • KAESER SYNDROME

  • Stark-Kaeser Syndrome

  • Neurogenic Scapuloperoneal Syndrome Kaeser Type

  • Neurogenic Scapuloperoneal Syndrome, Kaeser Type

  • Scapuloperoneal Syndrome, Neurogenic Type, Of Kaeser

  • SCPNK

  • Scapuloperoneal Syndrome Type Kaeser

Cardiomyopathy, Dilated, 1i
  • CMD1I

  • Dilated Cardiomyopathy 1i

  • Cardiomyopathy, Dilated 1i

  • Cardiomyopathy, Dilated, Type 1i

Myofibrillar Myopathy
  • Desmin Related Myopathy

  • Myotilinopathy

  • Myopathy, Myofibrillar

  • Alpha Beta Crystallinopathy

  • Desmin Storage Myopathy

  • Desminopathy

  • Filaminopathy

  • Protein Surplus Myopathy

  • Zaspopathy

  • Myofibrillar Myopathies

  • Myopathy, Myofibrillar, Desmin-Related

  • Myopathy, Desmin Storage

  • Mfm - [Myofibrillar Myopathy]

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, 1e
  • Left Ventricular Noncompaction 9

  • Left Ventricular Noncompaction 5

  • Dilated Cardiomyopathy 1e

  • Dilated Cardiomyopathy 1s

  • CMD1E

  • Cdcd2

  • Cardiomyopathy, Dilated, 1y

  • CMD1Y

  • Cardiomyopathy, Dilated, 1s

  • CMD1S

  • Dilated Cardiomyopathy 1y

  • Dilated Cardiomyopathy With Conduction Defect 2

  • Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Defect 2

  • Cardiomyopathy Dilated With Conduction Defect Type 2

  • Cardiomyopathy, Dilated 1e

  • Cardiomyopathy, Dilated 1s

  • Cardiomyopathy, Dilated 1y

  • Left Ventricular Non-Compaction 5

  • LVNC5

  • Left Ventricular Non-Compaction 9

  • LVNC9

  • Cardiomyopathy, Dilated, Type 1e

  • Cardiomyopathy, Dilated, Type 1s

  • Cardiomyopathy, Dilated, Type 1y

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

Familial Isolated Dilated Cardiomyopathy
  • Familial Or Idiopathic Dilated Cardiomyopathy

Progressive Familial Heart Block
  • Hereditary Bundle Branch Defect

  • Hereditary Bundle Branch System Defect

  • Familial Lenegre Disease

  • Familial Lev Disease

  • Familial Lev-Lenegre Disease

  • Familial Pccd

  • Familial Progressive Heart Block

  • Pfhb

  • Bundle Branch Block

  • Hbbd

  • Lenegre Lev Disease

  • Lev Syndrome

  • Lev'S Disease

  • Lev-Lenègre Disease

  • Pccd

  • Progressive Cardiac Conduction Defect

  • Bundle-Branch Block

Progressive Familial Heart Block, Type Ia
  • PFHB1A

  • Bundle Branch Block

  • Heart Block, Nonprogressive

  • Lenegre-Lev Disease

  • Hereditary Bundle Branch System Defect

  • Progressive Familial Heart Block Type Ia

  • Pfhbia

  • Pccd

  • Hbbd

  • Progressive Familial Heart Block, Type 1a

  • Heart Block, Progressive Familial, Type I

  • Pfhbi

  • Cardiac Conduction Defect, Progressive

  • Heart Block, Progressive, Type Ia

  • Progressive Familial Heart Block Type 1a

  • Familial Progressive Cardiac Conduction Defect

  • Heart Block Progressive Familial Type 1

  • Familial Lenègre Disease

  • Familial Lev Disease

  • Familial Lev-Lenègre Disease

  • Familial Pccd

  • Familial Progressive Heart Block

  • Hereditary Bundle Branch Defect

  • Progressive Familial Heart Block

  • Progressive Familial Heart Block 1a

  • Cardiac Conduction Defect

  • Progressive Cardiac Conduction Defect

  • Progressive Familial Heart Block Type I

  • Heart Block, Progressive, Familial, Type 1a

  • Bundle-Branch Block

  • Conduction Disorder Of The Heart

Lymphangioleiomyomatosis
  • Lymphangiomyomatosis

  • LAM

  • Lung Lymphangioleiomyomatosis

  • Pulmonary Lymphangioleiomyomatosis

  • Lymphangioleiomyomatosis, Somatic

  • Lymphangio-Myomatosis

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Mesenchymal Chondrosarcoma
  • Chondrosarcoma, Mesenchymal

  • Chondrosarcoma Mesenchymal

Epithelioid Leiomyosarcoma
  • Leiomyosarcoma Epithelioid

  • Leiomyosarcoma, Epithelioid

Adenosarcoma
  • Mullerian Adenosarcoma

Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Restrictive Cardiomyopathy
  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive

Dedifferentiated Liposarcoma
  • Ddls

  • Liposarcoma Dedifferentiated

  • Liposarcoma, Dedifferentiated

Fibromatosis
Glomus Tumor
  • Glomus Neoplasm

  • Glomus Tumour

Myopathy
  • Muscular Diseases

  • Myopathies

Alveolar Soft Part Sarcoma
  • ASPS

  • Alveolar Soft-Part Sarcoma

  • Sarcoma, Alveolar Soft Part

  • Alveolar Soft Tissue Sarcoma

  • Sarcoma Alveolar Soft Part

  • Adult Alveolar Soft-Part Sarcoma

  • Childhood Alveolar Soft-Part Sarcoma

Leiomyosarcoma
  • Leiomyosarcomas

Fibroma
Carcinosarcoma
  • Mixed Tumor, Mullerian

  • Malignant Mixed Mesodermal Tumor

  • Malignant Mixed Mullerian Tumor

  • Mmmt

  • Mixed Tumor, Mesodermal

  • Mesodermal Mixed Tumor

  • Mixed Mesodermal Tumor

  • Mullerian Mixed Tumor

  • Mixed Mullerian Tumor

  • Malignant Mixed Müllerian Tumor

  • Mixed Müllerian Tumor

  • Mixed Tumor Mullerian

  • Mixed Tumor, Not Otherwise Specified

Fibrous Histiocytoma
  • Benign Fibrous Histiocytoma

  • Histiocytoma, Benign Fibrous

  • Fibroxanthoma

  • Histiocytoma Fibrous

Embryonal Rhabdomyosarcoma
  • Rhabdomyosarcoma, Embryonal

  • Rhabdomyosarcoma Embryonal

  • Botryoid Rhabdomyosarcoma

  • Erms

  • Spindle Cell Rhabdomyosarcomas

Granular Cell Tumor
  • Abrikosov'S Tumor

  • Neoplasm Of Granular Cell

  • Abrikosoff'S Granulous Cell Tumor

  • Abrikosoff'S Tumor

  • Giant Granulocellular Abrikosov'S Tumor

  • Malignant Variant Of Abrikosov'S Tumor

  • Carcinoma, Granular Cell

Myopathy, Spheroid Body
  • Spheroid Body Myopathy

  • Autosomal Dominant Spheroid Body Myopathy

  • SBM

Medullary Colon Carcinoma
Angiomyolipoma
  • Angiomyolipoma Of Kidney

Endometrial Stromal Sarcoma
  • Ess

  • Endometrial Stromal Sarcoma, High Grade

  • Undifferentiated Endometrial Sarcoma

  • Stromal Sarcoma Of The Corpus Uteri

  • Sarcoma Endometrial Stromal

  • Sarcoma, Endometrial Stromal

  • Undifferentiated Stromal Sarcoma

Dermatofibrosarcoma Protuberans
  • DFSP

  • Dermatofibrosarcoma

  • Giant Cell Fibroblastoma

  • Metastatic Dermatofibrosarcoma Protuberans

  • Familial Dermatofibrosarcoma Protuberans

  • Darier-Ferrand Tumor

  • Darier-Hoffmann Tumor

Desmoplastic Small Round Cell Tumor
  • Dsrct

  • Desmoplastic Small Round-Cell Tumor

  • Desmoplastic Small Round-Cell Neoplasm

Miyoshi Muscular Dystrophy
  • Distal Myopathy

  • Distal Muscular Dystrophy

  • Miyoshi Myopathy

  • Distal Myopathies

  • Dystrophy, Muscular, Miyoshi

  • Myopathy, Distal

  • Distal Muscular Dystrophies

Leiomyoma
  • Leiomyomatous Neoplasm

  • Leiomyomatous Tumor

  • Leiomyomas

  • Fibroid Tumor

  • Uterine Fibroids

Malignant Fibrous Histiocytoma
  • Undifferentiated Pleomorphic Sarcoma

  • Ups

  • Histiocytoma, Malignant Fibrous

  • Fibroxanthosarcoma

  • Mfh

  • Malignant Fibrohistiocytic Tumors

  • Histiocytoma, Fibrous, Malignant

Infantile Myofibromatosis
  • Lipofibromatosis

  • Myofibromatosis

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Liposarcoma
  • Lipomatous Cancer

Gastrointestinal Stromal Tumor
  • GIST

  • Gastrointestinal Stromal Tumors

  • Gastrointestinal Stromal Sarcoma

  • Gastrointestinal Stromal Tumor, Familial

  • Gant

  • Gastrointestinal Stromal Tumour

  • Stromal Tumor Of Gastrointestinal Tract

  • Stromal Tumour Of Gastrointestinal Tract

  • Gastrointestinal Stromal Neoplasm

  • Paraganglioma And Gastric Stromal Sarcoma

  • Plexosarcoma

Muscle Cancer
  • Myosarcoma

  • Malignant Neoplasm Of Muscle

  • Malignant Tumor Of Muscle

  • Malignant Tumor Of The Muscle

  • Muscle Neoplasms

  • Myomatous Neoplasm

Angiolipoma
Uterus Leiomyosarcoma
  • Leiomyosarcoma Of Uterus

  • Leiomyosarcoma Of Corpus Uteri

  • Leiomyosarcoma Of The Corpus Uteri

  • Uterine Leiomyosarcoma

Uterine Sarcoma
  • Sarcoma Of The Uterus

  • Uterine Corpus Sarcoma

Pseudosarcomatous Fibromatosis
  • Nodular Fasciitis

  • Pseudosarcomatous Fasciitis

  • Fasciitis - Nodular

  • Fasciitis Nodular

Smooth Muscle Tumor
Pleomorphic Adenoma
  • Mixed Tumor Of The Salivary Gland

  • Adenoma Pleomorphic

  • Adenoma, Pleomorphic

  • Mixed Salivary Gland Tumor

  • Mixed Tumor, Not Otherwise Specified

Spindle Cell Sarcoma
  • Sarcoma

  • Sarcoma Spindle Cell

  • Sarcoma, Spindle Cell

  • Sarcoma - Category

Atrioventricular Block
  • Av Block

Hemangiopericytoma, Malignant
  • Hemangiopericytoma

  • Haemangiopericytic Meningioma

  • Malignant Hemangiopericytoma

  • Solitary Fibrous Tumor

Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Rhabdomyosarcoma
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

Batten-Turner Congenital Myopathy
  • Congenital Myopathy

  • Batten Turner Congenital Myopathy

  • Myopathy Congenital

  • Myopathy, Congenital

  • Myotonia Congenita

  • Benign Congenital Myopathy

Cutaneous Fibrous Histiocytoma
  • Dermatofibroma

  • Fibrohistiocytic Tumor

  • Benign Cutaneous Fibrous Histiocytoma

  • Fibrous Histiocytoma Of Skin

  • Fibrous Xanthoma Of Skin

  • Pleomorphic Fibroma

  • Sclerosing Angioma

  • Sclerosing Angioma Of Skin

  • Fibrous Histiocytoma

Chordoma
  • CHDM

  • Notochordoma

  • Notochordal Sarcoma

  • Chordoma, Susceptibility To

  • Chordocarcinoma

  • Chordoepithelioma

Rhabdoid Cancer
  • Rhabdoid Tumor

  • Malignant Rhabdoid Tumor

  • Malignant Rhabdoid Tumour

  • Rhabdoid Sarcoma

  • Rhabdoid Tumor Predisposition Syndrome 1

  • Rhabdoid Tumor Predisposition Syndrome 2

  • Atypical Teratoid Rhabdoid Tumor

  • Brain Tumor, Posterior Fossa, Of Infancy, Familial

  • Atypical Teratoid/Rhabdoid Tumor

Muscular Dystrophy-Dystroglycanopathy , Type C, 7
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u

  • Lgmd2u

  • MDDGC7

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20

  • Lgmdr20

  • Muscular Dystrophy, Limb-Girdle, Type 2u

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency

  • Muscular Dystrophy Limb-Girdle Type 2u

  • Muscular Dystrophy-Dystroglycanopathy Type C7

  • Ispd-Related Limb-Girdle Muscular Dystrophy R20

  • Ispd-Related Lgmd R20

  • Lgmd Type 2u

  • Limb-Girdle Muscular Dystrophy Type 2u

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7

  • Dystrophy, Muscular, Dystroglycanopathy, Type C7

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

Rhabdomyosarcoma 2
  • Alveolar Rhabdomyosarcoma

  • Rhabdomyosarcoma, Alveolar

  • Rhabdomyosarcoma Alveolar

  • RMS2

  • Rmsa

  • Rhabdomyosarcoma 2, Alveolar

  • Alveolar Childhood Rhabdomyosarcoma

  • Arms

  • Rhabdomyosarcoma, Type 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
  • Lgmd2w

  • Muscular Dystrophy, Limb-Girdle, Type 2w

Fibrosarcoma
  • Neoplasms, Fibrous Tissue

  • Fibrocytic Tumor

  • Fibrosarcoma Of Soft Tissue

  • Fibrous Tissue Neoplasm

Pulmonary Blastoma
  • Blastoma Of Lung

  • Pneumoblastoma

Syringoma
  • Syringomas

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

Central Core Disease Of Muscle
  • Central Core Disease

  • Central Core Myopathy

  • CCD

  • Cco

  • Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

  • Myopathy, Central Core

  • Shy-Magee Syndrome

  • Muscle Core Disease

  • Muscular Central Core Disease

  • Myopathy, Central Fibrillar

  • Shy'S Disease

  • Moderate Multiminicore Disease With Hand Involvement

Nephroma
  • Benign Nephroma

Adenomatoid Tumor
  • Adenomatoid Tumour

  • Benign Localised Epithelial Mesothelioma

  • Benign Localized Epithelial Mesothelioma

Neuroleptic Malignant Syndrome
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

Sertoli-Leydig Cell Tumor
  • Sertoli-Leydig Cell Tumors

  • Androblastoma Of Ovary

  • Arrhenoblastoma

  • Arrhenoblastoma Of Ovary

  • Sertoli-Leydig Cell Tumor Of The Ovary

  • Sertoli-Leydig Cell Tumor Of Intermediate Differentiation

  • Sertoli-Leydig Cell Tumor Of Ovary

Perineurioma
  • Soft Tissue Perineurioma

Myoepithelioma
  • Benign Myoepithelioma

  • Myoepithelial Adenoma

  • Myoepithelial Neoplasm

  • Malignant Myoepithelioma

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

Immunodeficiency 48
  • Combined Immunodeficiency Due To Zap70 Deficiency

  • IMD48

  • Selective T-Cell Defect

  • Stcd

  • Zeta-Associated-Protein 70 Deficiency

  • Severe Combined Immunodeficiency, Atypical

  • Immunodeficiency, Type 48

  • Zap70 Deficiency

Leiomyomatosis
Echinostomiasis
  • Infection By Echinochasmus

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
  • Muscular Dystrophy, Limb-Girdle, Type 1e

  • Lgmd1d

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d

  • LGMDD1

  • Lgmd1e

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1

  • Limb-Girdle Muscular Dystrophy Type 1d

  • Muscular Dystrophy, Limb-Girdle, Type 1d

  • Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly

  • Lgmd1d, Formerly

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

  • Muscular Dystrophy Limb-Girdle Type 1d

  • Muscular Dystrophy Limb-Girdle Type 1e

  • Dnajb6-Related Limb-Girdle Muscular Dystrophy D1

  • Dnajb6-Related Lgmd D1

  • Lgmd Type 1d

  • Limb-Girdle Muscular Dystrophy 1e

  • Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant

  • Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1

  • Dystrophy, Muscular, Limb-Girdle, Type 1e

Benign Giant Cell Tumor
  • Giant Cell Tumors

Lipomatosis, Multiple
  • Lipoma

  • Familial Multiple Lipomatosis

  • Lipomatosis, Familial Multiple

  • Benign Lipomatous Tumor

  • Lipomatous Neoplasm

  • Multiple Lipomatosis

  • Fml

  • Lipo

  • Benign Tumor Of Adipose Tissue

  • Lipomatous Tumor

  • Tumor Of Adipose Tissue

  • Neoplasms, Adipose Tissue

  • Lipomas

Desmoid Tumor
  • Aggressive Fibromatosis

  • Desmoid Type Fibromatosis

  • Familial Infiltrative Fibromatosis

  • Desmoid Disorder, Hereditary

  • Fif

  • Fibromatosis, Familial Infiltrative

  • Deep Fibromatosis

  • Desmoid Fibromatosis

  • Hereditary Desmoid Disease

  • Musculoaponeurotic Fibromatosis

  • Desmoid-Type Fibromatosis

  • Fibromatosis, Aggressive

  • Desmoid Disease, Hereditary

  • Musculo-Aponeurotic Fibromatosis

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
  • Lgmd1g

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

  • LGMDD3

  • Muscular Dystrophy, Limb-Girdle, Type 1g

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3

  • Limb-Girdle Muscular Dystrophy, Type 1g

  • Muscular Dystrophy Limb-Girdle Type 1g

  • Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3

  • Hnrnpdl-Related Lgmd D3

  • Lgmd Type 1g

  • Limb-Girdle Muscular Dystrophy Type 1g

  • Limb-Girdle Muscular Dystrophy 1g

  • Dystrophy, Muscular, Limb-Girdle, Type 1g

Neurilemmoma
  • Schwannoma

  • Benign Schwannoma

  • Neurilemoma

  • Peripheral Fibroblastoma

  • Psammomatous Schwannoma

  • Neurolemmoma

  • Schwannomas

Castleman Disease
  • Angiofollicular Ganglionic Hyperplasia

  • Angiofollicular Lymph Hyperplasia

  • Giant Lymph Node Hyperplasia

  • Castleman'S Disease

  • Angiofollicular Lymph Node Hyperplasia

  • Lymphoid Hamartoma

  • Benign Giant Lymphoma

  • Angiolymphoid Hyperplasia

Fasciitis
Atrial Standstill 1
  • ATRST1

  • Atrial Cardiomyopathy With Heart Block

  • Cardiomyopathy, Familial, With Conduction Disturbance

  • Atrial Standstill, Digenic

  • Familial Cardiomyopathy With Conduction Disturbance

  • Standstill, Atrial, Type 1

  • Heart Block

  • Cardiomyopathies

  • Idiopathic Cardiomyopathy

  • Idiopathic Cardiopathy

  • Primary Myocardial Disease

  • Primary Cardiomyopathy

  • Myocardiopathy

  • Myocardosis

  • Primary Idiopathic Myocardial Disease

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
  • Lgmd2g

  • Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2g

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
  • Lgmd2j

  • Muscular Dystrophy, Limb-Girdle, Type 2j

Coffin-Siris Syndrome 1
  • Coffin-Siris Syndrome

  • Fifth Digit Syndrome

  • Css

  • CSS1

  • Mrd12

  • Mental Retardation, Autosomal Dominant 12

  • Hhid

  • Dwarfism-Onychodysplasia

  • Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

  • Autosomal Dominant Mental Retardation 12

  • Short Stature-Onychodysplasia.

  • Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

  • Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

  • Short Stature-Onychodysplasia

  • Coffin-Siris Syndrome, Type 1

  • Mental Retardation, Autosomal Dominant, Type 12

Sarcoma, Synovial
  • Synovial Sarcoma

  • Synovialosarcoma

  • Synovial Cell Sarcoma

  • Sarcoma Synovial

Pneumothorax
  • Pneumothorax Nos

  • Air Leak Nos

  • Pleural Air Leak Nos

Myasthenic Syndrome, Congenital, 6, Presynaptic
  • Familial Infantile Myasthenia

  • CMS6

  • Cmsea

  • Congenital Myasthenic Syndrome 6

  • Familial Infantile Myasthenia Gravis 2

  • Fimg2

  • Myasthenic Syndrome, Congenital, Associated With Episodic Apnea

  • Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea

  • Congenital Myasthenic Syndrome Type Ia2, Formerly

  • Cms1a2, Formerly

  • Cms Ia2, Formerly

  • Myasthenia, Familial Infantile, Formerly

  • Fim, Formerly

  • Myasthenia Gravis, Familial Infantile, 2, Formerly

  • Fimg2, Formerly

  • Cms Ia2

  • Cms1a2

  • Congenital Myasthenic Syndrome 6, Presynaptic

  • Congenital Myasthenic Syndrome Type Ia2

  • Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea

  • Fim

  • Cms1a

  • Cms-Ea

  • Cms Ia

  • Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea

  • Congenital Myasthenic Syndrome Type 1a

  • Congenital Myasthenic Syndrome Type Ia

  • Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Lipodystrophy, Familial Partial, Type 6
  • FPLD6

  • Lipe-Related Familial Partial Lipodystrophy

  • Familial Partial Lipodystrophy Type 6

  • Lipe-Related Fpld

  • Lipodystrophy, Familial Partial, Associated With Lipe Mutations

  • Familial Partial Lipodystrophy Associated With Lipe Mutations

  • Lipodystrophy, Familial Partial, 6

Myopathy, Myofibrillar, 3
  • Myotilinopathy

  • Myofibrillar Myopathy 3

  • MFM3

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

  • Lgmd1a

  • Muscular Dystrophy, Limb-Girdle, Type 1a

  • Myopathy, Myofibrillar, Myotilin-Related

  • Muscular Dystrophy, Limb-Girdle, Type 1, Formerly

  • Lgmd1, Formerly

  • Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly

  • Lgmd1a, Formerly

  • Qualitative Or Quantitative Defects Of Myotilin

  • Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency

  • Distal Myotilinopathy

  • Lgmd1

  • Limb-Girdle Muscular Dystrophy 1a

  • Mfm Myotilin-Related

  • Muscular Dystrophy, Limb-Girdle, Type 1

  • Myopathy Myofibrillar Myotylin-Related

  • Myopathy, Myofibrillar, Type 3

Medulloblastoma
  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Medulloblastoma Predisposition Syndrome

  • Medulloblastoma, Somatic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site

Achalasia
  • Cardiospasm

  • Achalasia Of Cardia

  • Esophageal Achalasia

  • Hypertensive Lower Esophageal Sphincter

  • Idiopathic Achalasia

  • Achalasia Cardia

  • Idiopathic Achalasia Of Esophagus

  • Primary Achalasia

  • Achalasia Of Esophagus

  • Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

  • Aperistalsis Of The Oesophagus

  • Achalasia Of Oesophagus

  • Oesophageal Achalasia

  • Achalasia Nos

  • Cardia Spasm

  • Cardia Achalasia

  • Oesophageal Cardiospasm

  • Oesophagus Achalasia

  • Reflex Cardiospasm

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Ewing Sarcoma
  • Neuroepithelioma

  • Ewing'S Tumor

  • Primitive Neuroectodermal Tumor

  • Ewings Sarcoma

  • Ewing'S Sarcoma

  • Peripheral Neuroepithelioma

  • ES

  • Ewings Sarcoma-Primitive Neuroectodermal Tumor

  • Localized Peripheral Primitive Neuroectodermal Tumor

  • Peripheral Primitive Neuroectodermal Tumor

  • Ewing Tumor

  • Sarcoma, Ewing'S

  • Ewing Family Of Tumors

  • Extraosseous Ewing Tumor

  • Askin Tumor

  • Ewing'S Family Localized Tumor

  • Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

  • Localized Ewing Sarcoma

  • Localized Ewing'S Sarcoma

  • Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

  • Localized Ewing'S Tumor

  • Pnet Of Thoracopulmonary Region

  • Tumor Of The Ewing Family

  • Skeletal Ewing Sarcoma

  • Osseous Ewing Sarcoma

  • Ppnet

  • Peripheral Pnet

  • Extraskeletal Ewing Sarcoma

  • Eoe

  • Extraosseous Ewing Sarcoma

  • Extraskeletal Ewing Tumor

  • Esft

  • Ewing Sarcoma Family Of Tumors

  • Pne

  • Pnet

  • Pnet Of The Chest Wall

  • Sarcoma, Ewing

  • Neuroectodermal Tumors, Primitive, Peripheral

  • Neuroectodermal Tumor, Primitive

  • Disorder Of Eye

  • Askin'S Tumor

  • Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

  • Neuroepithelioma, Peripheral

Cardiomyopathy, Dilated, 1h
  • Dilated Cardiomyopathy 1h

  • Dilated Cardiomyopathy With Conduction Defect

  • CMD1H

  • Cardiomyopathy, Dilated, With Conduction Defect

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

Constipation
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

Species Symbol Source ID
Mus musculus DES MGD MGI:94885
Canis familiaris DES VGNC VGNC:39905
Rattus norvegicus DES RGD RGD:620686
Bos taurus DES VGNC VGNC:28013
Macaca mulatta DES VGNC VGNC:71770
Felis catus DES VGNC VGNC:61451
Others DES NCBI