Metabolism, Inborn Errors
Disease ID: disease_node_5171
Connections displayed (default: 10).
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| Dbxref | MESH:D008661, NCI:C34816, SNOMEDCT_US_2023_03_01:86095007, UMLS_CUI:C0025521 |
|---|---|
| Subclassof | DOID_0014667, DOID_630 |
| Data Source | DOID, MESH |
| Synonyms | Inborn Errors of Metabolism, Metabolic hereditary disorder, inborn metabolism disorder |
| Mesh Id | D008661 |
| Mesh Label | Metabolism, Inborn Errors |
| Mesh Subclassof | D030342, D008659 |
| Doid Label | inherited metabolic disorder |
| Doid Description | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
| Disease Node Id | disease_node_5171 |
| Doid Id | DOID_655 |
| Label | Metabolism, Inborn Errors |
- Incoming r'ship
SUBCLASS_OFto/from X-Linked Warfarin Sensitivity(ID:disease_node_17533) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Vitamin Metabolic Disorder(ID:disease_node_17078) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Variant Abeta2M Amyloidosis(ID:disease_node_17484) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Transthyretin Amyloidosis(ID:disease_node_17489) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Warfarin Resistance(ID:disease_node_17534) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Pyrimidine Metabolic Disorder(ID:disease_node_17538) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Porphyrias(ID:disease_node_6271) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Purine-Pyrimidine Metabolic Disorder(ID:disease_node_17499) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Primary Cutaneous Amyloidosis(ID:disease_node_17123) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Peroxisomal Disorders(ID:disease_node_9830) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Plasma Protein Metabolism Disease(ID:disease_node_17495) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Multiple Acyl Coenzyme A Dehydrogenase Deficiency(ID:disease_node_11825) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Mitochondrial Diseases(ID:disease_node_10985) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Lysosomal Storage Diseases(ID:disease_node_8717) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Genetic Diseases, Inborn(ID:disease_node_11057) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Lipid Metabolism, Inborn Errors(ID:disease_node_4772) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Metal Metabolism, Inborn Errors(ID:disease_node_5173) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Metabolic Diseases(ID:disease_node_5170) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hyperphosphatemic Familial Tumoral Calcinosis(ID:disease_node_17442) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Immunoglobulin Light-Chain Amyloidosis(ID:disease_node_304) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hrpt-Related Hyperuricemia(ID:disease_node_17480) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hyperbilirubinemia(ID:disease_node_4076) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Isolated Elevated Serum Creatine Phosphokinase Levels(ID:disease_node_17532) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hyperbilirubinemia, Hereditary(ID:disease_node_4077) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Familial Visceral Amyloidosis(ID:disease_node_17490) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Familial Hypocalciuric Hypercalcemia(ID:disease_node_17444) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Glycerol Kinase Deficiency(ID:disease_node_17537) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cerebral Amyloid Angiopathy, Familial(ID:disease_node_10973) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Carbohydrate Metabolism, Inborn Errors(ID:disease_node_1800) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Aceruloplasminemia(ID:disease_node_17441) (Disease)