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loading...| Preferred Name |
METHEMOGLOBINEMIA, BETA TYPE |
| ID |
http://purl.bioontology.org/ontology/OMIM/617971 |
| cui |
C1840779 |
| Gene Locus |
11p15.5 |
| Gene Symbol |
HBB ECYT6 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036837 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
617971 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
METHEMOGLOBINEMIA, BETA TYPE |
| Scope Statement |
Onset of cyanosis during infancy as beta hemoglobin synthesis increases [MISCELLANEOUS] Caused by mutation in the hemoglobin beta gene (HBB, 141900.0163) [MOLECULAR BASIS] |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C564192 | Medical Subject Headings / 医学主题词表 | CUI |