ZFIN Human Disease: hypotrichosis-lymphedema-telangiectasia syndrome

OBO ID: DOID:0111361

Term Name:	hypotrichosis-lymphedema-telangiectasia syndrome		Search Ontology:
Synonyms:	HLTS
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 the SOX18 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/12740761
References:	MESH:C564327 OMIM:607823
Ontology:	Human Disease ( DOID:0111361 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive 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 syndrome	607823

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None