ZFIN Human Disease: Meckel syndrome 13

OBO ID: DOID:0080253

Term Name:	Meckel syndrome 13		Search Ontology:
Synonyms:
Definition:	A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. https://pubmed.ncbi.nlm.nih.gov/26123494/
References:	OMIM:617562
Ontology:	Human Disease ( DOID:0080253 )

Relationships

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

OTHER Meckel syndrome 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TMEM107	tmem107	?Joubert syndrome 29	617562
		Meckel syndrome 13	617562

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None