Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: holoprosencephaly type 3 Shh holoprosencephaly HLP3 HPE3 SHH holoprosencephaly holoprosencephaly 3 holoprosencephaly caused by mutation in Shh holoprosencephaly caused by mutation in SHH

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C564181 (MONDO:equivalentTo)
  • UMLS:C1840529 (MONDO:equivalentTo)
  • MEDGEN:327125 (MONDO:equivalentTo)
  • OMIM:142945 (MONDO:equivalentTo)
  • DOID:0110875 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, nord_rare

exactMatch

https://omim.org/entry/142945

http://identifiers.org/mesh/C564181

http://linkedlifedata.com/resource/umls/id/C1840529

http://identifiers.org/medgen/327125

http://purl.obolibrary.org/obo/DOID_0110875

id

MONDO:0007733

Term relations

Subclass of: