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Sickle Cell Disease Ontology
Last uploaded:
May 6, 2021
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| Id | http://purl.obolibrary.org/obo/SCDO_0000541
http://purl.obolibrary.org/obo/SCDO_0000541
|
|---|---|
| Preferred Name | Hemoglobin M Disease |
| Definitions |
A type of dominant hereditary methemoglobinemia resulting from the production of hemoglobin M, which is readily oxidised to yield excess methemoglobin which leads to cyanosis.
|
| Synonyms |
Autosomal Dominant Hereditary Methemoglobinemia Type II
Hereditary Methemoglobinemia Type II
Second Form of Inherited MetHb
Autosomal Dominant Congenital Methemoglobinemia Type II
Hereditary MetHb Type II
M Hemoglobinopathy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A type of dominant hereditary methemoglobinemia resulting from the production of hemoglobin M, which is readily oxidised to yield excess methemoglobin which leads to cyanosis. |
|---|---|
| skos:prefLabel | Hemoglobin M Disease
|
| rdfs:label | Hemoglobin M Disease
|
| prefLabel | Hemoglobin M Disease
|
| diagnosed using tool | |
| dc:creator | SCDO (Jade Hotchkiss)
|
| definition source | |
| prefixIRI | SCDO:0000541
|
| has causal genotype | |
| subClassOf | |
| has causal molecular phenotype | |
| curator note | Suggest update to description in MESH
|
| type | |
| existence in other ontologies | Few but definitions not available
|
| hasExactSynonym |
Autosomal Dominant Hereditary Methemoglobinemia Type II
Hereditary Methemoglobinemia Type II
Second Form of Inherited MetHb
Autosomal Dominant Congenital Methemoglobinemia Type II
Hereditary MetHb Type II
M Hemoglobinopathy
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|
| has mode of inheritance |
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