Closed elliebroeren closed 11 months ago
nicolevasilevsky
commented
11 months ago Hi @elliebroeren - this term already exists in Mondo: MONDO:0009436 'congenital hypothalamic hamartoma syndrome', it is an exact synonym.
Would you like revisions to this existing term?
elliebroeren
commented
11 months ago Hi Nicole,
I didn't realize that, thank you for letting me know!
Ellie
On Thu, Dec 7, 2023 at 3:45 PM Nicole Vasilevsky @.***> wrote:
Hi @elliebroeren https://github.com/elliebroeren - this term already exists in Mondo: MONDO:0009436 'congenital hypothalamic hamartoma syndrome', it is an exact synonym.
Would you like revisions to this existing term?
— Reply to this email directly, view it on GitHub https://github.com/monarch-initiative/mondo/issues/6861#issuecomment-1846087237, or unsubscribe https://github.com/notifications/unsubscribe-auth/A32CJQZIXFX4BHXRPXITVCTYIITGPAVCNFSM6AAAAAA7FHZLPSVHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMYTQNBWGA4DOMRTG4 . You are receiving this because you were mentioned.Message ID: @.***>
nicolevasilevsky
commented
11 months ago No worries! I'll close this ticket.
Happy holidays!
Label
Pallister-Hall-like syndrome
Synonyms
No response
Synonym type
None
Definition
Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (PMIDs: 30497210, 32413283).
OMIM notes that Pallister-Hall syndrome is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene.
Parent term
MONDO:080006
Children term(s)
No response
ORCID Identifier
No response
Website URL
https://clinicalgenome.org/affiliation/40060/
Additional comments
No response