OBO ID: DOID:0080253 |
Term Name: | Meckel syndrome 13 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0080253 ) |
OTHER Meckel syndrome 13 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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