loading...| Preferred Name | Thalassemia | |
| Synonyms |
thalassemia α- and β-thalassemia sickle-cell thalassemia with crisis thalassemia Hb-S disease without crisis sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis |
|
| 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. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1001996 |
|
| database_cross_reference |
NCIt:C35069 NCIT:C35069 ICD9:282.40 ICD9:282.49 ICD10CM:D56 NANDO:2200626 UMLS:C0039730 MONDO:0000984 SCTID:40108008 MEDGEN:21121 MedDRA:10054658 MeSH:D013789 MESH:D013789 DOID:10241 GARD:7756 ICD9:282.4 |
|
| definition |
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. |
|
| has_exact_synonym |
thalassemia α- and β-thalassemia sickle-cell thalassemia with crisis thalassemia Hb-S disease without crisis sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis |
|
| id |
EFO:1001996 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
Thalassemia |
|
| notation |
EFO:1001996 |
|
| preferred label |
Thalassemia |
|
| prefLabel |
Thalassemia |
|
| skos_exactMatch |
http://identifiers.org/snomedct/40108008 http://identifiers.org/mesh/D013789 http://purl.obolibrary.org/obo/EFO_1001996 http://purl.obolibrary.org/obo/DOID_10241 http://purl.bioontology.org/ontology/ICD10CM/D56 http://linkedlifedata.com/resource/umls/id/C0039730 |
|
| term editor |
Gautier Koscielny |
|
| subClassOf | ||
| excluded_subClassOf |