loading...| Preferred Name | Brain Diseases, Metabolic, Inborn | |
| Synonyms |
Brain Syndrome, Metabolic, Inborn Brain Diseases, Metabolic, Familial Inborn Metabolic Brain Diseases Inborn Metabolic Brain Disorders Metabolic Diseases, Inborn, Brain Metabolic Brain Syndrome, Inborn Central Nervous System Inborn Metabolic Disorders Inborn Metabolic Disorders, Brain Brain Diseases, Metabolic, Inherited Familial Metabolic Disorders, Brain Metabolic Brain Diseases, Inborn CNS Metabolic Disorders, Inborn Central Nervous System Inborn Metabolic Diseases Inherited Metabolic Brain Diseases Metabolic Brain Diseases, Familial Inborn Errors of Metabolism, Brain Metabolic Diseases, Inborn, Central Nervous System Metabolic Brain Diseases, Inherited Metabolic Disorders, Brain, Inherited Metabolic Disorders, CNS, Inborn Metabolic Disorders, Familial, Brain Encephalopathies, Metabolic, Inborn Inherited Metabolic Disorders, Brain Familial Metabolic Brain Diseases |
|
| 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 Syndrome, Metabolic, Inborn Brain Diseases, Metabolic, Familial Inborn Metabolic Brain Diseases Inborn Metabolic Brain Disorders Metabolic Diseases, Inborn, Brain Metabolic Brain Syndrome, Inborn Central Nervous System Inborn Metabolic Disorders Inborn Metabolic Disorders, Brain Brain Diseases, Metabolic, Inherited Familial Metabolic Disorders, Brain Metabolic Brain Diseases, Inborn CNS Metabolic Disorders, Inborn Central Nervous System Inborn Metabolic Diseases Inherited Metabolic Brain Diseases Metabolic Brain Diseases, Familial Inborn Errors of Metabolism, Brain Metabolic Diseases, Inborn, Central Nervous System Metabolic Brain Diseases, Inherited Metabolic Disorders, Brain, Inherited Metabolic Disorders, CNS, Inborn Metabolic Disorders, Familial, Brain Encephalopathies, Metabolic, Inborn Inherited Metabolic Disorders, Brain Familial Metabolic Brain 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 |
C0752110 C0752109 C0752107 |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2000 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C535598 http://purl.bioontology.org/ontology/MESH/C537336 http://purl.bioontology.org/ontology/MESH/C565722 http://purl.bioontology.org/ontology/MESH/C537462 http://purl.bioontology.org/ontology/MESH/C535328 http://purl.bioontology.org/ontology/MESH/C535737 |
|
| MDA |
19991103 |
|
| MMR |
20110705 |
|
| MN |
C10.228.140.163.100 C16.320.565.189 C18.452.648.189 C18.452.132.100 |
|
| notation |
D020739 |
|
| prefLabel |
Brain Diseases, Metabolic, Inborn |
|
| TERMUI |
T369007 T369003 T369023 T369017 T369019 T369030 T369018 T369001 T358165 T369016 T369004 T369024 T369021 T369000 T369022 T369008 T368999 T369002 T369005 T369032 T369031 T369020 T369006 T368998 T369015 |
|
| TH |
NLM (2000) |
|
| tui |
T047 |
|
| subClassOf |