Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

PALLISTER-HALL SYNDROME
Synonyms

PHS

HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY
ID

http://purl.bioontology.org/ontology/OMIM/146510
altLabel

PHS

HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY
cui

C0265220
Gene Locus

7p13
Gene Symbol

GLI3

PAPA

PAPB
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

146510
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PALLISTER-HALL SYNDROME
Scope Statement

Caused by mutations in the GLI-Kruppel family member 3 gene (GLI3, 165240.0002) [MOLECULAR BASIS]

Variable severity [MISCELLANEOUS]

Variable expressivity [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/56677004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/56677004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10089178 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-00611 SNMI CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181083 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10089178 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D054975 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D054975 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10089178 MEDDRA CUI
http://www.owl-ontologies.com/unnamed.owl#RID14905 DERMLEX LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9248 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.617.477.299 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D054975 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054975 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.551.240.250.700.500.249 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039918 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265220 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.585.600.374 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.614.250.195.885.500.299 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84987 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2130 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_672 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/56677004 SNOMEDCT LOOM
rgo:12725 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84987 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.211.885.500.299 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007804 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007804 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007804 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0007804 KTAO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00611 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.445.622 RH-MESH LOOM
http://purl.jp/bio/4/id/200906038115693810 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.690 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_9248 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9248 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9248 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9248 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9248 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_9248 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9248 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIM_146510 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.585.600.374 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D054975 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10089178 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pallister-Hall_Syndrome CSEO LOOM
http://purl.org/skeletome/bonedysplasia#Pallister-Hall_syndrome BDO LOOM
http://purl.obolibrary.org/obo/OMIT_0026095 OMIT LOOM