Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/146510
http://purl.bioontology.org/ontology/OMIM/146510
Preferred Name

PALLISTER-HALL SYNDROME
Synonyms
PHS
HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PHS
HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY
prefLabel
PALLISTER-HALL SYNDROME
Gene Symbol
GLI3
PAPA
PAPB
Scope Statement
Caused by mutations in the GLI-Kruppel family member 3 gene (GLI3, 165240.0002) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU004401
http://purl.bioontology.org/ontology/OMIM/MTHU017697
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU045114
http://purl.bioontology.org/ontology/OMIM/MTHU017693
http://purl.bioontology.org/ontology/OMIM/MTHU036425
http://purl.bioontology.org/ontology/OMIM/MTHU017698
http://purl.bioontology.org/ontology/OMIM/MTHU007917
http://purl.bioontology.org/ontology/OMIM/MTHU017690
http://purl.bioontology.org/ontology/OMIM/MTHU012400
http://purl.bioontology.org/ontology/OMIM/MTHU017686
http://purl.bioontology.org/ontology/OMIM/MTHU036549
http://purl.bioontology.org/ontology/OMIM/MTHU017691
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU001447
http://purl.bioontology.org/ontology/OMIM/MTHU007067
http://purl.bioontology.org/ontology/OMIM/MTHU004827
http://purl.bioontology.org/ontology/OMIM/MTHU007768
http://purl.bioontology.org/ontology/OMIM/MTHU010422
http://purl.bioontology.org/ontology/OMIM/MTHU005092
http://purl.bioontology.org/ontology/OMIM/MTHU000059
http://purl.bioontology.org/ontology/OMIM/MTHU005631
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU017702
http://purl.bioontology.org/ontology/OMIM/MTHU036879
http://purl.bioontology.org/ontology/OMIM/MTHU017692
http://purl.bioontology.org/ontology/OMIM/MTHU036337
http://purl.bioontology.org/ontology/OMIM/MTHU017700
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU036562
http://purl.bioontology.org/ontology/OMIM/MTHU017699
http://purl.bioontology.org/ontology/OMIM/MTHU017688
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU017696
http://purl.bioontology.org/ontology/OMIM/MTHU005516
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU013739
http://purl.bioontology.org/ontology/OMIM/MTHU002571
http://purl.bioontology.org/ontology/OMIM/MTHU000064
http://purl.bioontology.org/ontology/OMIM/MTHU017687
http://purl.bioontology.org/ontology/OMIM/MTHU017694
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU001746
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tui
T047
Gene Locus
7p13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
146510
Semantic type UMLS property
Has inheritance type
cui
C0265220
OMIM Entry Type
3
OMIM MimType Value
pound
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