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Johnson neuroectodermal syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007837

Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. [ Orphanet:2316 ]

Synonyms: Johnson neuroectodermal syndrome alopecia-anosmia-conductive hearing loss-hypogonadism syndrome alopecia-anosmia-deafness-hypogonadism syndrome Johnson-McMillin syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0796002 (MONDO:equivalentTo)
  • SCTID:721584005 (MONDO:equivalentTo)
  • OMIM:147770 (Orphanet:2316/e)
  • MEDGEN:167092 (MONDO:equivalentTo)
  • GARD:378 (MONDO:GARD)
  • Orphanet:2316 (OMIM:147770)
  • MESH:C535882 (Orphanet:2316/e)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://identifiers.org/snomedct/721584005

https://omim.org/entry/147770

http://www.orpha.net/ORDO/Orphanet_2316

http://identifiers.org/medgen/167092

http://linkedlifedata.com/resource/umls/id/C0796002

http://identifiers.org/mesh/C535882

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

alopecia anosmia deafness hypogonadism syndrome

Aadh syndrome

id

MONDO:0007837

seeAlso

https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome