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loading...| Preferred Name |
Generalized resistance to thyroid hormone |
|
| Synonyms |
Deafness-thyroid hormone resistance syndrome Refetoff syndrome Hearing loss-thyroid hormone resistance syndrome |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_3221 |
|
| alternative_term |
Deafness-thyroid hormone resistance syndrome Refetoff syndrome Hearing loss-thyroid hormone resistance syndrome |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3221 |
|
| label |
Generalized resistance to thyroid hormone |
|
| notation |
ORPHA:3221 |
|
| prefixIRI |
ORDO:Orphanet_3221 |
|
| prefLabel |
Generalized resistance to thyroid hormone |
|
| reason_for_obsolescence |
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_3221 | EFO | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_2878 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0009043 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0009043 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0009043 | DOVES | LOOM | |
| http://purl.bioontology.org/ontology/MEDDRA/10062444 | MEDDRA | LOOM | |
| http://id.nlm.nih.gov/mesh/D018382 | MDM | LOOM |