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ONTOLOGY REPORT - ANNOTATIONS


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 1;   HKLLS1;   Hennekam Lymphangiectasia Lymphedema Syndrome;   Lymphangiectasies and lymphedema Hennekam type;   Lymphatic Dysplasia, Generalized;   lymphedem-lymphangiectasia-intellectual disability syndrome
 primary_id: MESH:C537255;   RDO:0003054
 alt_id: OMIM:235510
 xref: GARD:3318;   ORDO:2136
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Hennekam syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 61,758,754 62,013,194 RGD:7240710
RGD:8554872
RGD:11554173
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
RGD:8554872
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:7240710
RGD:8554872
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 JBrowse link 14 19,866,278 20,072,896 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Hennekam syndrome 3
        HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 1
        Hennekam Lymphangiectasia-Lymphedema Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Immune & Inflammatory Diseases 2999
        immune system disease 2432
          lymphatic system disease 781
            Lymphangiectasis 4
              Lymphangiectasis, Intestinal 3
                Hennekam syndrome 3
                  HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 1
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 2 1
paths to the root