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loading...| Preferred Name |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 |
| Synonyms |
HHF5 |
| ID |
http://purl.bioontology.org/ontology/OMIM/609968 |
| altLabel |
HHF5 |
| cui |
C1864952 |
| Gene Locus |
19p13.2 |
| Gene Symbol |
INSR HHF5 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000370 http://purl.bioontology.org/ontology/OMIM/MTHU000415 http://purl.bioontology.org/ontology/OMIM/MTHU000417 http://purl.bioontology.org/ontology/OMIM/MTHU000368 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
609968 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 |
| Scope Statement |
Caused by mutation in the insulin receptor gene (INSR, 147670.0037) [MOLECULAR BASIS] Genetic heterogeneity (see HHF1 256450) [MISCELLANEOUS] |
| tui |
T047 |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C566494 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C566494 | Medical Subject Headings / 医学主题词表 | LOOM |