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visceral heterotaxy
Summary
- Synonym
-
- heterotaxia
- situs ambiguus
- Definition
- A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
- Super Class
- physical disorder
External Links
- Disease Ontology
- DOID:0050545
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
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- 5437752
- 5465103
- 5465102
- 5463447
- 5446426
- 5445973
- 5445342
- 5442145
- 5442143
- 5442135
- 5512641
- 5437116
- 5437115
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- 5437105
- 5561116
- 5645239
- 5620190
- 5620189
- 5618826
- 5618819
- 5615273
- 5605970
- 5561553
- 5561311
- 5437104
- 5561115
- 5560505
- 5555841
- 5555837
- 5555835
- 5554212
- 5549965
- 5512643
- 5285617
- 5312933
- 5312921
- 5312338
- 5312336
- 5312335
- 5311937
- 5311833
- 5311158
- 5296754
- 5313323
- 5285350
- 3839106
- 3618631
- 3618630
- 3618629
- 2657283
- 2657281
- 2654122
- 5318339
- 5433489
- 5433487
- 5433329
- 5433327
- 5433295
- 5431549
- 5431539
- 5431537
- 5430345
- 2180831
- 5317649
- 5317636
- 5316790
- 5314016
- 5313814
- 5313520
- 5313515
- 5313509
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 93 | ACVR2B | activin A receptor type 2B | |
| 2657 | GDF1 | growth differentiation factor 1 | |
| 4838 | NODAL | nodal growth differentiation factor | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 | |
| 118856 | MMP21 | matrix metallopeptidase 21 | |
| 168507 | PKD1L1 | polycystin 1 like 1, transient receptor potential channel interacting | |
| 220136 | CFAP53 | cilia and flagella associated protein 53 | |
| 653275 | CFC1B | cryptic, EGF-CFC family member 1B |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P0CG36 | Cryptic family protein 1B | |
| P0CG37 | Cryptic protein | |
| P27539 | Embryonic growth/differentiation factor 1 | |
| Q13705 | Activin receptor type-2B | |
| Q8N119 | Matrix metalloproteinase-21 | |
| Q8TDX9 | Polycystin-1-like protein 1 | |
| Q96M91 | Cilia- and flagella-associated protein 53 | |
| Q96S42 | Nodal homolog |
| UniProt ID | Protein Name | Source |
|---|---|---|
| E9Q7N9 | Dynein, axonemal, heavy chain 11 | |
| P27040 | Activin receptor type-2B | |
| P60882 | Multiple epidermal growth factor-like domains protein 8 | |
| P97766 | Cryptic protein | |
| Q04592 | Proprotein convertase subtilisin/kexin type 5 | |
| Q3USS3 | Dynein regulatory complex protein 1 | |
| Q62521 | Zinc finger protein ZIC 3 | |
| Q6A078 | Centrosomal protein of 290 kDa | |
| Q8BPJ0 | LRRNT domain-containing protein | |
| Q8BR76 | Meckelin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001746 | Asplenia |
| HP:0011599 | Mesocardia |
| HP:0001651 | Dextrocardia |
| HP:0003577 | Congenital onset |
| HP:0000252 | Microcephaly |
| HP:0002566 | Intestinal malrotation |
| HP:0006695 | Atrioventricular canal defect |
| HP:0001696 | Situs inversus totalis |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001748 | Polysplenia |
