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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:Hennekam syndrome
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Accession:DOID:0060366 term browser browse the term
Definition:A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (DO)
Synonyms:exact_synonym: Hennekam Lymphangiectasia Lymphedema Syndrome;   Lymphangiectasies and lymphedema Hennekam type;   Lymphatic Dysplasia, Generalized;   lymphedem-lymphangiectasia-intellectual disability syndrome;   lymphedema-lymphangiectasia-intellectual disability syndrome
 primary_id: MESH:C537255
 alt_id: RDO:0003054
 xref: GARD:3318;   OMIM:PS235510;   ORDO:2136
For additional species annotation, visit the Alliance of Genome Resources.


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Hennekam syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200, PMID:19935664 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar
PMID:19911200, PMID:19935664, PMID:24033266, PMID:25741868, PMID:27323140, PMID:28492532 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by OMIM:616006
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2
OMIM
ClinVar
PMID:2624276, PMID:22473091, PMID:24056717, PMID:24913602 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 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 ISO ClinVar Annotator: match by term: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 ClinVar
OMIM
PMID:28985353, PMID:30450763 NCBI chr14:19,866,278...20,072,896
Ensembl chr14:19,866,408...20,070,994
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Hennekam syndrome 3
        Hennekam Lymphangiectasia-Lymphedema Syndrome 1 2
        Hennekam Lymphangiectasia-Lymphedema Syndrome 2 1
        Hennekam Lymphangiectasia-Lymphedema Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Immune & Inflammatory Diseases 3508
        immune system disease 2928
          lymphatic system disease 1088
            Lymphangiectasis 4
              Intestinal Lymphangiectasis 3
                Hennekam syndrome 3
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 1 2
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 2 1
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.