ZFIN Human Disease: Marsili syndrome

OBO ID: DOID:0081075

Term Name:	Marsili syndrome		Search Ontology:
Synonyms:	congenital analgesia congenital insensitivity to pain
Definition:	A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. https://pubmed.ncbi.nlm.nih.gov/29253101/
References:	OMIM:147430
Ontology:	Human Disease ( DOID:0081075 )

Relationships

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

OTHER Marsili syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ZFHX2	zfhx2	?Marsili syndrome	147430

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None