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Mondo Disease Ontology
Last uploaded:
February 4, 2025
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| Id | http://purl.obolibrary.org/obo/MONDO_0000984
http://purl.obolibrary.org/obo/MONDO_0000984
|
|---|---|
| Preferred Name | thalassemia |
| Definitions |
An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
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| Synonyms | |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | |
|---|---|
| label |
thalassemia
|
| prefLabel |
thalassemia
|
| database_cross_reference |
GARD:7756
DOID:10241
ICD9:282.40
NANDO:2200626
EFO:1001996
ICD9:282.49
MESH:D013789
ICD10CM:D56
SCTID:40108008
UMLS:C0039730
MEDGEN:21121
ICD9:282.4
NCIT:C35069
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|
| notation |
MONDO:0000984
|
| in_subset | |
| id |
MONDO:0000984
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| excluded subClassOf | |
| skos_exactMatch |
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|
| subClassOf | |
| type | |
| has_exact_synonym |
sickle-cell thalassemia with crisis
sickle-cell thalassemia without crisis
thalassemia Hb-S disease without crisis
thalassemia Hb-S disease with crisis
|
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