Search Ontology:
Human Disease

Meckel syndrome 13

Term ID
DOID:0080253
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
Ontology
Human Disease   ( DOID:0080253 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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