JSON

permanent congenital hypothyroidism

Go to external page http://purl.obolibrary.org/obo/MONDO_0016408

Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth. [ Orphanet:226292 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:226292 (MONDO:equivalentTo)
  • MEDGEN:1843186 (MONDO:equivalentTo)
  • GARD:20560 (MONDO:GARD)
  • UMLS:C5680893 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

exactMatch

http://linkedlifedata.com/resource/umls/id/C5680893

http://identifiers.org/medgen/1843186

http://www.orpha.net/ORDO/Orphanet_226292

id

MONDO:0016408