loading...| Preferred Name | abetalipoproteinemia | |
| Synonyms |
microsomal triglyceride transfer Protein deficiency MTP deficiency ABL Betalipoprotein deficiency disease abetalipoproteinemia neuropathy congenital betalipoprotein deficiency syndrome acanthocytosis Bassen Kornzweig syndrome apolipoprotein B deficiency Bassen-Kornzweig syndrome microsomal triglyceride transfer protein deficiency disease homozygous familial hypobetalipoproteinemia abetalipoproteinemia Bassen-Kornzweig disease familial hypobetalipoproteinemia |
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| Definitions |
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008692 |
|
| database_cross_reference |
GARD:5 GARD:15127 OMIM:200100 MESH:D000012 NORD:703 UMLS:C0000744 SCTID:190787008 DOID:1386 NCIT:C84525 Orphanet:14 |
|
| definition |
Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0000744 http://identifiers.org/mesh/D000012 http://identifiers.org/snomedct/190787008 http://purl.obolibrary.org/obo/Orphanet_14 |
|
| has material basis in germline mutation in | ||
| has_exact_synonym |
microsomal triglyceride transfer protein deficiency disease homozygous familial hypobetalipoproteinemia abetalipoproteinemia Bassen-Kornzweig disease familial hypobetalipoproteinemia |
|
| has_related_synonym |
microsomal triglyceride transfer Protein deficiency MTP deficiency ABL Betalipoprotein deficiency disease abetalipoproteinemia neuropathy congenital betalipoprotein deficiency syndrome acanthocytosis Bassen Kornzweig syndrome apolipoprotein B deficiency Bassen-Kornzweig syndrome |
|
| id |
MONDO:0008692 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
abetalipoproteinemia |
|
| notation |
MONDO:0008692 |
|
| prefLabel |
abetalipoproteinemia |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0017774 http://purl.obolibrary.org/obo/MONDO_0020044 http://purl.obolibrary.org/obo/MONDO_0005020 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017774 http://purl.obolibrary.org/obo/MONDO_0020044 http://purl.obolibrary.org/obo/MONDO_0005020 |