Online Mendelian Inheritance in Man - MUCOPOLYSACCHARIDOSIS, TYPE IVB - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	MUCOPOLYSACCHARIDOSIS, TYPE IVB
Synonyms	MPS IVB MPS4B MORQUIO SYNDROME B
ID	http://purl.bioontology.org/ontology/OMIM/253010
altLabel	MPS IVB MPS4B MORQUIO SYNDROME B
cui	C0086652
Gene Locus	3p21.33
Gene Symbol	GLB1 MPS4B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036368 http://purl.bioontology.org/ontology/OMIM/MTHU001355 http://purl.bioontology.org/ontology/OMIM/MTHU003664 http://purl.bioontology.org/ontology/OMIM/MTHU011189 http://purl.bioontology.org/ontology/OMIM/MTHU008513 http://purl.bioontology.org/ontology/OMIM/MTHU011207 http://purl.bioontology.org/ontology/OMIM/MTHU000258 http://purl.bioontology.org/ontology/OMIM/MTHU011194 http://purl.bioontology.org/ontology/OMIM/MTHU011163 http://purl.bioontology.org/ontology/OMIM/MTHU001954 http://purl.bioontology.org/ontology/OMIM/MTHU011190 http://purl.bioontology.org/ontology/OMIM/MTHU009982 http://purl.bioontology.org/ontology/OMIM/MTHU011193 http://purl.bioontology.org/ontology/OMIM/MTHU065389 http://purl.bioontology.org/ontology/OMIM/MTHU020633 http://purl.bioontology.org/ontology/OMIM/MTHU001361 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU011192 http://purl.bioontology.org/ontology/OMIM/MTHU008519 http://purl.bioontology.org/ontology/OMIM/MTHU002639 http://purl.bioontology.org/ontology/OMIM/MTHU011201 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU003640 http://purl.bioontology.org/ontology/OMIM/MTHU004893 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU011197 http://purl.bioontology.org/ontology/OMIM/MTHU020632 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU011198 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU011166 http://purl.bioontology.org/ontology/OMIM/MTHU011199 http://purl.bioontology.org/ontology/OMIM/MTHU011196 http://purl.bioontology.org/ontology/OMIM/MTHU003440 http://purl.bioontology.org/ontology/OMIM/MTHU000585 http://purl.bioontology.org/ontology/OMIM/MTHU011195
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	253010
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MUCOPOLYSACCHARIDOSIS, TYPE IVB
Scope Statement	Appear normal at birth [MISCELLANEOUS] Onset between 1-3 years [MISCELLANEOUS] Caused by mutation in the beta-galactosidase gene (GLB1, 611458.0009) [MOLECULAR BASIS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SCTSPA/238044004	SCTSPA	CUI
	http://purl.bioontology.org/ontology/ICD10CM/E76.211	ICD10CM	CUI
	http://purl.bioontology.org/ontology/MESH/D009085	MESH	CUI
	http://purl.bioontology.org/ontology/RCD/X40W7	RCD	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D009085	MSHFRE	CUI
	http://purl.bioontology.org/ontology/SNMI/D6-70244	SNMI	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/238044004	SNOMEDCT	CUI
	http://www.owl-ontologies.com/unnamed.owl#RID18225	DERMLEX	LOOM
	http://purl.bioontology.org/ontology/RCD/X40W7	RCD	LOOM
	http://purl.obolibrary.org/obo/NCIT_C84902	BERO	LOOM
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84902	NCIT	LOOM
	http://purl.obolibrary.org/obo/DOID_0111392	DOID	LOOM
	http://purl.obolibrary.org/obo/DOID_0111392	HHEAR	LOOM
	http://purl.obolibrary.org/obo/DOID_0111392	DDSS	LOOM
	http://purl.obolibrary.org/obo/DOID_0111392	NIFSTD	LOOM
	http://purl.obolibrary.org/obo/DOID_0111392	FNS-H	LOOM
	http://nanbyodata.jp/ontology/NANDO_2201179	NANDO	LOOM
	http://www.owl-ontologies.com/NPOntology.owl#mucopolysaccharidosis_type_IV_B	NATPRO	LOOM
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis_Type_IVB	CSEO	LOOM