ZFIN Human Disease: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

OBO ID: DOID:0111360

Term Name:	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		Search Ontology:
Synonyms:	glomerulonephritis with sparse hair and telangiectases HLT-renal defect syndrome HLTRS hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome telangiectatic membranoproliferative glomerulonephritis
Definition:	A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/24697860
References:	OMIM:137940
Ontology:	Human Disease ( DOID:0111360 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SOX18	sox18	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	137940

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None