loading...| Preferred Name |
Brain Diseases, Metabolic, Inborn |
| Synonyms |
Brain Diseases, Metabolic, Familial |
| Definitions |
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. |
| ID |
http://purl.bioontology.org/ontology/MESH/D020739 |
| altLabel |
Brain Diseases, Metabolic, Familial Familial Metabolic Brain Diseases Encephalopathies, Metabolic, Inborn Metabolic Disorders, CNS, Inborn Inborn Metabolic Brain Disorders Metabolic Brain Diseases, Inherited Inborn Metabolic Disorders, Brain Metabolic Brain Diseases, Familial Metabolic Disorders, Familial, Brain Inherited Metabolic Disorders, Brain Familial Metabolic Disorders, Brain Metabolic Diseases, Inborn, Brain Brain Diseases, Metabolic, Inherited Inherited Metabolic Brain Diseases Inborn Errors of Metabolism, Brain Central Nervous System Inborn Metabolic Disorders Metabolic Diseases, Inborn, Central Nervous System Metabolic Disorders, Brain, Inherited Brain Syndrome, Metabolic, Inborn Metabolic Brain Diseases, Inborn CNS Metabolic Disorders, Inborn Metabolic Brain Syndrome, Inborn Inborn Metabolic Brain Diseases Central Nervous System Inborn Metabolic Diseases |
| AN |
general or unspecified, prefer specifics |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0752107 C0752110 C0752109 |
| DC |
1 |
| definition |
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. |
| DX |
20000101 |
| FX |
D008607 |
| HN |
2000 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
2000 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C535737 http://purl.bioontology.org/ontology/MESH/C535598 http://purl.bioontology.org/ontology/MESH/C535328 http://purl.bioontology.org/ontology/MESH/C535306 http://purl.bioontology.org/ontology/MESH/C537336 http://purl.bioontology.org/ontology/MESH/C564762 |
| MDA |
19991103 |
| MMR |
20110705 |
| MN |
C10.228.140.163.100 C18.452.648.189 C16.320.565.189 C18.452.132.100 |
| notation |
D020739 |
| prefLabel |
Brain Diseases, Metabolic, Inborn |
| TERMUI |
T369021 T369005 T369015 T369023 T368999 T369030 T369017 T369003 T369022 T369020 T358165 T369032 T369019 T369002 T369024 T369008 T369018 T369007 T368998 T369001 T369031 T369000 T369006 T369016 T369004 |
| TH |
NLM (2000) |
| tui |
T047 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||