Preferred Name | METHEMOGLOBINEMIA, BETA TYPE | |
Synonyms |
|
|
ID |
http://purl.bioontology.org/ontology/OMIM/617971 |
|
cui |
C1840779 |
|
Gene Locus |
11p15.5 |
|
Gene Symbol |
ECYT6 HBB |
|
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 |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C564192 | MESH | CUI |