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loading...| Preferred Name |
ABETALIPOPROTEINEMIA |
| Synonyms |
MTP DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/200100 |
| altLabel |
MTP DEFICIENCY MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY ABL BASSEN-KORNZWEIG SYNDROME ACANTHOCYTOSIS |
| cui |
C0000744 |
| Gene Locus |
4q22-q24 |
| Gene Symbol |
MTTP |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU014870 http://purl.bioontology.org/ontology/OMIM/MTHU014872 http://purl.bioontology.org/ontology/OMIM/MTHU013555 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU002306 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
200100 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ABETALIPOPROTEINEMIA |
| Scope Statement |
Caused by mutation in the microsomal triglyceride transfer protein gene (MTP, 157147.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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