Meckel Syndrome 13
Disease ID: disease_node_14684
Connections displayed (default: 10).
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| Dbxref | MIM:617562 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050778 |
| Data Source | DOID |
| Doid Label | Meckel syndrome 13 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14684 |
| Doid Id | DOID_0080253 |
| Label | Meckel Syndrome 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Meckel Syndrome(ID:disease_node_14683) (Disease)