RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Intestinal Lymphangiectasis
Accession: DOID:9005821
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Definition: Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES.
Synonyms: exact_synonym: intestinal lymphangiectases; intestinal lymphangiectasia
primary_id: MESH:D008201
alt_id: MIM:152800
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Ccbe1
collagen and calcium binding EGF domains 1
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 PMID:21778431 PMID:22239599 PMID:23653581 PMID:24033266 PMID:24167460 PMID:25741868 PMID:25814692 PMID:26686525 PMID:27323140 PMID:28073151 PMID:28492532 PMID:28985353 PMID:31345219 PMID:31453292 PMID:32472549 PMID:32629717 More...
NCBI chrNW_004624792:4,863,978...5,146,907
Ensembl chrNW_004624792:4,867,858...5,146,839
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
ClinVar
PMID:25741868
NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2
OMIM ClinVar
PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25741868 PMID:26325558 PMID:28492532 More...
NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
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Adamts3
ADAM metallopeptidase with thrombospondin type 1 motif 3
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763
NCBI chrNW_004624890:3,738,727...3,925,377
Ensembl chrNW_004624890:3,738,186...3,925,491
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Ccbe1
collagen and calcium binding EGF domains 1
ISO
ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED
ClinVar
PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 PMID:28985353 PMID:32472549 PMID:32629717 More...
NCBI chrNW_004624792:4,863,978...5,146,907
Ensembl chrNW_004624792:4,867,858...5,146,839
G
Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
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