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
Term information
- MESH:C564181 (MONDO:equivalentTo)
- UMLS:C1840529 (MONDO:equivalentTo)
- MEDGEN:327125 (MONDO:equivalentTo)
- OMIM:142945 (MONDO:equivalentTo)
- DOID:0110875 (MONDO:equivalentTo)
gard_rare, otar, rare, nord_rare
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