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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:Protein-losing enteropathy
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Accession:HP:0002243 term browser browse the term
Definition:Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.
Comment:Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins.
Synonyms:xref: SNOMEDCT_US:22542007;   SNOMEDCT_US:66972006;   UMLS:C0033680


show annotations for term's descendants           Sort by:
Protein-losing enteropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO PMID:28985353 MIM:618154 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO ORPHA:79327 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79320 NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO PMID:12480927 MIM:608104 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G BLNK B cell linker IAGP HPO PMID:10583958 MIM:613502 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G CARD8 caspase recruitment domain family member 8 IAGP HPO PMID:29408806 MIM:619079 NCBI chr19:48,203,148...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP ClinVar Annotator: match by term: Protein-losing enteropathy ClinVar
HPO		 PMID:1710232 PMID:1720702 PMID:6695433 PMID:9536098 PMID:9675792 More... MIM:613793 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO ORPHA:95428 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 IAGP HPO PMID:23114594 MIM:615863 NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
G FOCAD focadhesin IAGP HPO PMID:35864190 MIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G MPI mannose phosphate isomerase IAGP HPO MIM:602579 ORPHA:79319 NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219 		JBrowse link
G PET117 PET117 cytochrome c oxidase chaperone IAGP HPO PMID:28386624 MIM:619063 NCBI chr20:18,137,863...18,143,169
Ensembl chr20:18,137,863...18,143,169 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PLVAP plasmalemma vesicle associated protein IAGP HPO PMID:26207260 MIM:618183 NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO PMID:23534974 MIM:614162 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Protein-losing enteropathy ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of the digestive system 14958
        Abnormal digestive system morphology 5509
          Abnormal gastrointestinal tract morphology 5431
            Abnormal intestine morphology 4575
              Abnormal small intestine morphology 534
                Protein-losing enteropathy 21
paths to the root