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Mondo Disease Ontology
| Preferred Name | hyperthyroxinemia, familial dysalbuminemic | |
| Synonyms |
euthyroid hyperthyroxinemia 1 FDH FDAH hyperthyroxinemia, familial Dysalbuminemic hyperthyroxinemia, familial dysalbuminemic dysalbuminemic hyperthyroxinemia dysalbuminemic hypertriiodothyroninemia familial Dysalbuminemic hyperthyroxinemia bisalbuminemia familial Dysalbuminemic hyperthyroidism |
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| Definitions |
An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0014448 |
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| database_cross_reference |
OMIM:615999 Orphanet:276271 UMLS:C0342185 SCTID:237547004 NCIT:C131813 MEDGEN:90974 MESH:D050010
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|
| definition |
An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.
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| has_exact_synonym |
hyperthyroxinemia, familial Dysalbuminemic hyperthyroxinemia, familial dysalbuminemic dysalbuminemic hyperthyroxinemia dysalbuminemic hypertriiodothyroninemia familial Dysalbuminemic hyperthyroxinemia bisalbuminemia familial Dysalbuminemic hyperthyroidism
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| has_related_synonym |
euthyroid hyperthyroxinemia 1 FDH FDAH
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| IAO_0000233 | ||
| id |
MONDO:0014448
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|
| label |
hyperthyroxinemia, familial dysalbuminemic
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|
| notation |
MONDO:0014448
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| prefLabel |
hyperthyroxinemia, familial dysalbuminemic
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| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0342185 http://identifiers.org/mesh/D050010 http://identifiers.org/medgen/90974 |
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| treeView |
http://purl.obolibrary.org/obo/MONDO_0005333 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005333 |
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