Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 4A
Disease ID: disease_node_16798
Connections displayed (default: 10).
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| Dbxref | MIM:620358 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060333 |
| Data Source | DOID |
| Synonyms | MC5DN4A |
| Doid Label | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A |
| Doid Description | A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal domit inheritance. |
| Existence Starts During | HP_0003593 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16798 |
| Doid Id | DOID_0070461 |
| Label | Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 4A |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 4(ID:disease_node_16796) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)