| Metadata | |
|---|---|
| ID | DOID:0070703 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070703 Copy |
| Name | Meckel syndrome 14 |
| Definition | A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/27894351/, https://pubmed.ncbi.nlm.nih.gov/30851085/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619879 |
| Subsets |
DO_rare_slim |
| Synonyms |
MKS14 [EXACT] |
| Parent Relationships |
is_a Meckel syndrome |
| Subclass Logical Relationships |
existence starts during some Fetal onset has material basis in some autosomal recessive inheritance |