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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abdominal situs inversus
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Accession:HP:0003363 term browser browse the term
Definition:A left-right reversal (or 'mirror reflection') of the anatomical location of the viscera of the abdomen.
Synonyms:exact_synonym: Situs inversus visceralis;   Situs inversus viscerum
 xref: Fyler:3816;   MESH:D012857;   SNOMEDCT_US:27317008;   SNOMEDCT_US:43876007;   UMLS:C0037221



show annotations for term's descendants           Sort by:
Abdominal situs inversus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP ORPHA:2604 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP OMIM:619123 HPO NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
JBrowse link
G CFAP52 cilia and flagella associated protein 52 IAGP OMIM:619607 HPO NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447
JBrowse link
G CFAP53 cilia and flagella associated protein 53 IAGP OMIM:614779 HPO NCBI chr18:50,227,193...50,266,495
Ensembl chr18:50,227,193...50,266,495
JBrowse link
G CFC1 cripto, FRL-1, cryptic family 1 IAGP OMIM:605376 HPO NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
JBrowse link
G CPLX1 complexin 1 IAGP ORPHA:280 HPO NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP ORPHA:280 HPO NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP ClinVar Annotator: match by term: Situs inversus viscerum
ClinVar Annotator: match by term: Situs inversus visceralis
ClinVar PMID:28492532 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837
JBrowse link
G FOXJ1 forkhead box J1 IAGP OMIM:618699 HPO NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ORPHA:280 HPO NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G NELFA negative elongation factor complex member A IAGP ORPHA:280 HPO NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NODAL nodal growth differentiation factor IAGP OMIM:270100
ClinVar Annotator: match by term: Situs inversus viscerum
HPO
ClinVar
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ORPHA:280 HPO NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G IAGP ORPHA:280 HPO NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting IAGP OMIM:617205 HPO NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466
JBrowse link
G ZIC3 Zic family member 3 IAGP OMIM:306955 HPO NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Growth abnormality 3404
        Heterotaxy 40
          Abnormality of abdominal situs 18
            Abdominal situs inversus 16
paths to the root