loading...| Preferred Name |
multiple mitochondrial dysfunctions syndrome 3 |
| Synonyms |
IBA57 deficiency |
| Definitions |
A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080135 |
| database_cross_reference |
OMIM:615330 ORDO:363424 |
| definition |
A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. |
| has exact synonym |
IBA57 deficiency |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080135 |
| in_subset | |
| label |
multiple mitochondrial dysfunctions syndrome 3 |
| notation |
DOID:0080135 |
| prefLabel |
multiple mitochondrial dysfunctions syndrome 3 |
| subClassOf |