loading...| Preferred Name |
Peroxisomal Disorders |
| Synonyms |
Acidemia, Hyperpipecolic |
| Definitions |
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. |
| ID |
http://purl.bioontology.org/ontology/MESH/D018901 |
| altLabel |
Acidemia, Hyperpipecolic Adrenoleukodystrophy, Neonatal Peroxisomal Dysfunction, Single Dysfunctions, Single Peroxisomal Adrenoleukodystrophy, Autosomal, Neonatal Form General Peroxisomal Dysfunctions Peroxisomal Dysfunctions, Multiple Neonatal Adrenoleukodystrophies Neonatal Adrenoleukodystrophy Acidemias, Hyperpipecolic Adrenoleukodystrophy, Autosomal Neonatal Form Peroxisomal Dysfunction, Multiple Hyperpipecolic Acidemia Multiple Peroxisomal Dysfunction Dysfunctions, Multiple Peroxisomal Adrenoleukodystrophies, Neonatal Peroxisomal Dysfunction, General Single Peroxisomal Dysfunction Peroxisomal Dysfunctions, General Multiple Peroxisomal Dysfunctions Hyperpipecolatemia Dysfunction, Multiple Peroxisomal Dysfunction, General Peroxisomal Single Peroxisomal Dysfunctions Dysfunction, Single Peroxisomal Peroxisomal Dysfunctions, Single Hyperpipecolic Acidemias Peroxisomal Disorder Dysfunctions, General Peroxisomal General Peroxisomal Dysfunction |
| AN |
general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY |
| 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 |
C0282526 C0751710 C0751709 C0282525 C0751708 C0282528 |
| DC |
1 |
| definition |
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. |
| DX |
19960101 |
| HN |
1996 |
| 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 | |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D011371 http://purl.bioontology.org/ontology/MESH/D016464 http://purl.bioontology.org/ontology/MESH/D002239 http://purl.bioontology.org/ontology/MESH/D015499 http://purl.bioontology.org/ontology/MESH/D020157 http://purl.bioontology.org/ontology/MESH/D006933 http://purl.bioontology.org/ontology/MESH/D011686 http://purl.bioontology.org/ontology/MESH/D008664 http://purl.bioontology.org/ontology/MESH/D028226 http://purl.bioontology.org/ontology/MESH/D043202 http://purl.bioontology.org/ontology/MESH/D020739 http://purl.bioontology.org/ontology/MESH/D030401 |
| Machine permutation |
1996 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566633 http://purl.bioontology.org/ontology/MESH/C536664 http://purl.bioontology.org/ontology/MESH/C566626 http://purl.bioontology.org/ontology/MESH/C566405 http://purl.bioontology.org/ontology/MESH/C566635 http://purl.bioontology.org/ontology/MESH/C563965 http://purl.bioontology.org/ontology/MESH/C566625 http://purl.bioontology.org/ontology/MESH/C566422 http://purl.bioontology.org/ontology/MESH/C566569 http://purl.bioontology.org/ontology/MESH/C563964 http://purl.bioontology.org/ontology/MESH/C566388 http://purl.bioontology.org/ontology/MESH/C566624 http://purl.bioontology.org/ontology/MESH/C563301 http://purl.bioontology.org/ontology/MESH/C566634 http://purl.bioontology.org/ontology/MESH/C535444 http://purl.bioontology.org/ontology/MESH/C566568 |
| MDA |
19941227 |
| MMR |
20150608 |
| MN |
C18.452.648.663 C16.320.565.663 |
| notation |
D018901 |
| prefLabel |
Peroxisomal Disorders |
| TERMUI |
T369865 T056335 T056329 T752049 T369867 T812298 T056330 T369866 T812299 T745635 |
| TH |
NLM (1996) NLM (2000) NLM (2010) NLM (2012) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |