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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:hypotrichosis-lymphedema-telangiectasia syndrome
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Accession:DOID:0111361 term browser browse the term
Definition:A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33. (DO)
Synonyms:exact_synonym: HLTS
 primary_id: MESH:C564327
 alt_id: OMIM:607823
For additional species annotation, visit the Alliance of Genome Resources.



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hypotrichosis-lymphedema-telangiectasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human)
ClinVar Annotator: match by OMIM:607823
OMIM
ClinVar
RGD
PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:12740761 RGD:1599075 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
JBrowse link
G Tcea2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome ClinVar PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 NCBI chr 3:168,796,244...168,804,125
Ensembl chr 3:168,796,331...168,804,116
JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar
OMIM
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:29307792 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
JBrowse link
G Tcea2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:29307792 NCBI chr 3:168,796,244...168,804,125
Ensembl chr 3:168,796,331...168,804,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      hypotrichosis-lymphedema-telangiectasia syndrome 2
        hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            hair disease 256
              hypotrichosis 129
                hypotrichosis-lymphedema-telangiectasia syndrome 2
                  hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 2
paths to the root