Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: Carpenter syndrome 2 MEGF8-related Carpenter syndrome Carpenter syndrome type 2 MEGF8 Carpenter syndrome Carpenter syndrome caused by mutation in MEGF8
This is just here as a test because I lose it
Term information
database
cross reference
- OMIM:614976 (MONDO:equivalentTo)
- GARD:15889 (OMIM:614976)
- UMLS:C3554247 (OMIM:614976)
Subsets
gard_rare, rare, nord_rare, clingen