Orphanet Rare Disease Ontology - Mucolipidosis type III - Classes | NCBO BioPortal

Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

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Preferred Name	Mucolipidosis type III
Synonyms	Pseudo-Hurler polydystrophy
Definitions	A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).
ID	http://www.orpha.net/ORDO/Orphanet_577
alternative_term	Pseudo-Hurler polydystrophy
definition	A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).
definition_citation	Orphanet
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577
has_age_of_onset	Childhood
has_inheritance	Autosomal recessive
hasDbXref	OMIM:252605 OMIM:252600 UMLS:C0033788 ICD-11:5C56.20 MedDRA:10072929 ICD-10:E77.0
label	Mucolipidosis type III
notation	ORPHA:577
part_of	http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_79212
prefixIRI	ORDO:Orphanet_577
prefLabel	Mucolipidosis type III
present_in	Netherlands AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_annual_incidence_average_value : 0.985 AND has_annual_incidence_range : 1-9 / 1 000 000 Netherlands AND has_annual_incidence_average_value : 0.08 AND has_annual_incidence_range : <1 / 1 000 000 Portugal AND has_annual_incidence_average_value : 1.68 AND has_annual_incidence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 50.4 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 29.55 AND has_point_prevalence_range : 1-5 / 10 000
treeView	http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_79212
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493

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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_577	EFO	SAME_URI
	http://purl.bioontology.org/ontology/MEDDRA/10072929	MEDDRA	LOOM
	http://www.owl-ontologies.com/unnamed.owl#RID17619	DERMLEX	LOOM
	http://purl.bioontology.org/ontology/RCTV2/C377100	RCTV2	LOOM
	http://purl.bioontology.org/ontology/RCD/X40WB	RCD	LOOM
	http://www.gamuts.net/entity#mucolipidosis_type_3	GAMUTS	REST