ZFIN Human Disease: orofaciodigital syndrome XVI

OBO ID: DOID:0080254

OBO ID: DOID:0080254

Term Name:	orofaciodigital syndrome XVI	Search Ontology:
Synonyms:
Definition:	An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/26518474/
References:	OMIM:617563
Ontology:	Human Disease ( DOID:0080254 )

Relationships

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

OTHER orofaciodigital syndrome XVI PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TMEM107	tmem107	Orofaciodigital syndrome XVI	617563

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None