WormBase Tree Display for DO_term: DOID:0060742
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| DOID:0060742 | Name | methylmalonic acidemia cblA type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. | ||||
| Synonym | Exact | methylmalonic aciduria cblA type | |||
| methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type | |||||
| Parent | Is_a | DOID:14749 | |||
| DB_info | Database | OMIM | disease | 251100 | |
| Attribute_of | Gene_by_orthology | WBGene00020169 |
