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Pallister-Hall syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007804

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. [ Orphanet:672 ]

Synonyms: Pallister Hall syndrome hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly PHS ano-cerebro-digital syndrome Pallister-Hall syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:56677004 (MONDO:equivalentTo)
  • OMIM:146510 (Orphanet:672/e)
  • MEDGEN:120514 (MONDO:equivalentTo)
  • NCIT:C84987 (MONDO:equivalentTo)
  • Orphanet:672 (OMIM:146510)
  • GARD:7305 (MONDO:GARD)
  • DOID:9248 (MONDO:equivalentTo)
  • MESH:D054975 (Orphanet:672/e)
  • ICD9:759.89 (MONDO:relatedTo)
  • NORD:1545 (MONDO:NORD)
  • UMLS:C0265220 (MONDO:equivalentTo)
Subsets

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

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84987

https://omim.org/entry/146510

http://identifiers.org/snomedct/56677004

http://identifiers.org/mesh/D054975

http://identifiers.org/medgen/120514

http://purl.obolibrary.org/obo/DOID_9248

http://www.orpha.net/ORDO/Orphanet_672

http://linkedlifedata.com/resource/umls/id/C0265220

id

MONDO:0007804

seeAlso

https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome