Online Mendelian Inheritance in Man - GLI-KRUPPEL FAMILY MEMBER 3 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	GLI-KRUPPEL FAMILY MEMBER 3
Synonyms	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME POSTAXIAL POLYDACTYLY, TYPE A1 ONCOGENE GLI3 GLI3 POSTAXIAL POLYDACTYLY, TYPE A1/B PREAXIAL POLYDACTYLY, TYPE IV PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY, TYPE B GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
ID	http://purl.bioontology.org/ontology/OMIM/165240
altLabel	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME POSTAXIAL POLYDACTYLY, TYPE A1 ONCOGENE GLI3 GLI3 POSTAXIAL POLYDACTYLY, TYPE A1/B PREAXIAL POLYDACTYLY, TYPE IV PALLISTER-HALL SYNDROME POSTAXIAL POLYDACTYLY, TYPE B GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
cui	C4016299 C4282400 C0265306 C1868120 C0812382 C0265220 C4016298 C1833825
Gene Locus	7p13
Gene Symbol	GLI3 PAPA PAPB
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/165240.0015 http://purl.bioontology.org/ontology/OMIM/165240.0016 http://purl.bioontology.org/ontology/OMIM/165240.0017 http://purl.bioontology.org/ontology/OMIM/165240.0011 http://purl.bioontology.org/ontology/OMIM/165240.0012 http://purl.bioontology.org/ontology/OMIM/165240.0010 http://purl.bioontology.org/ontology/OMIM/165240.0019 http://purl.bioontology.org/ontology/OMIM/165240.0013 http://purl.bioontology.org/ontology/OMIM/165240.0018 http://purl.bioontology.org/ontology/OMIM/165240.0014 http://purl.bioontology.org/ontology/OMIM/165240.0008 http://purl.bioontology.org/ontology/OMIM/165240.0003 http://purl.bioontology.org/ontology/OMIM/165240.0004 http://purl.bioontology.org/ontology/OMIM/165240.0001 http://purl.bioontology.org/ontology/OMIM/165240.0007 http://purl.bioontology.org/ontology/OMIM/165240.0002 http://purl.bioontology.org/ontology/OMIM/165240.0009 http://purl.bioontology.org/ontology/OMIM/165240.0005 http://purl.bioontology.org/ontology/OMIM/165240.0006 http://purl.bioontology.org/ontology/OMIM/165240.0021 http://purl.bioontology.org/ontology/OMIM/165240.0022 http://purl.bioontology.org/ontology/OMIM/165240.0020
MIMTYPEMEANING	Gene with known sequence
notation	165240
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	GLI-KRUPPEL FAMILY MEMBER 3
tui	T047 T033 T019 T028

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C562429	MESH	CUI
	http://purl.bioontology.org/ontology/MDRGER/10053878	MDRGER	CUI
	http://purl.bioontology.org/ontology/MESH/C562429	MESH	CUI
	http://purl.bioontology.org/ontology/SCTSPA/56677004	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/32985001	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/MESH/C537300	MESH	CUI
	http://purl.bioontology.org/ontology/SNMI/D4-00D03	SNMI	CUI
	http://purl.bioontology.org/ontology/CSP/0725-9662	CRISP	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10053878	MEDDRA	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10053878	MDRFRE	CUI
	http://purl.bioontology.org/ontology/SCTSPA/32985001	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SCTSPA/715707008	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/715707008	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/56677004	SNOMEDCT	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/MESH/D054975	MESH	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D054975	MSHFRE	CUI
	http://purl.org/skeletome/bonedysplasia#P000075	BDO	LOOM