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loading...| Preferred Name |
primary congenital hypothyroidism |
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| Synonyms |
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| Definitions |
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0700053 |
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| comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
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| database_cross_reference |
Orphanet:226295 |
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| definition |
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. |
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| label |
primary congenital hypothyroidism |
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| preferred label |
primary congenital hypothyroidism |
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| prefixIRI |
efo:EFO_0700053 |
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| prefLabel |
primary congenital hypothyroidism |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_226295 | ORDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0016409 | DOVES | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_19030 | HRDO | LOOM | |
| http://purl.bioontology.org/ontology/LNC/LA12538-7 | LOINC | LOOM |