| Term ID: |
3363 |
| Name: |
Abdominal situs inversus |
| Synonym: |
Situs inversus visceralis; Situs inversus viscerum |
| Definition: |
A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen. |
| Comments: |
|
| Reference: |
HP:0003363 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | .. Abdominal situs ambiguus (HP:0031565) 
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | . | | | 17 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | . | | | 3 | | | | HP:0003363 | HP:0003363 | Abdominal situs inversus | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
Genes (15) :ACTG2 CCDC32 CFAP52 CFAP53 CFC1 CPLX1 CTBP1 FOXJ1 LETM1 NELFA NODAL NSD2 PIGG PKD1L1 ZIC3
Diseases (10) :ORPHA:2604 OMIM:619123 OMIM:619607 OMIM:614779 OMIM:605376 ORPHA:280 OMIM:618699 OMIM:270100 OMIM:617205 OMIM:306955 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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