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hereditary hyperekplexia

Go to external page http://purl.obolibrary.org/obo/MONDO_0021022

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. [ Orphanet:3197 ]

Synonyms: hereditary hyperekplexia startle disease Stiff baby syndrome congenital stiff man syndrome familial startle disease hereditary hyperexplexia Kok disease

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:3129 (MONDO:GARD)
  • MEDGEN:332019 (MONDO:equivalentTo)
  • DOID:0060695 (MONDO:equivalentTo)
  • UMLS:C1835614 (MONDO:equivalentTo)
  • Orphanet:3197 (MONDO:equivalentTo)
  • OMIMPS:149400 (MONDO:equivalentTo)
  • SCTID:724351008 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_3197

http://identifiers.org/medgen/332019

http://linkedlifedata.com/resource/umls/id/C1835614

https://omim.org/phenotypicSeries/PS149400

http://purl.obolibrary.org/obo/DOID_0060695

http://identifiers.org/snomedct/724351008

has broad synonym

hyperekplexia

has related synonym

hyperexplexia hereditary

id

MONDO:0021022