Human Disease Ontology

Last uploaded: June 28, 2024

Preferred Name	mucolipidosis type IV
Synonyms
Definitions	A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.
ID	http://purl.obolibrary.org/obo/DOID_0080490
database_cross_reference	GARD:94 MIM:252650 ORDO:578
definition	A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.
has_obo_namespace	disease_ontology
id	DOID:0080490
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	mucolipidosis type IV
notation	DOID:0080490
prefLabel	mucolipidosis type IV
subClassOf	http://purl.obolibrary.org/obo/DOID_0080488

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0080490	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0080490	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0080490	FNS-H	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009653	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009653	MONDO	LOOM
http://purl.bioontology.org/ontology/RCD/X40VB	RCD	LOOM
http://identifiers.org/omim/252650	REXO	LOOM
http://identifiers.org/omim/252650	GEXO	LOOM
http://identifiers.org/omim/252650	RETO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/725296006	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/DOID_0080490	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080490	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080490	FNS-H	LOOM
http://purl.obolibrary.org/obo/NCIT_C84896	BERO	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/untitled-ontology-14#IRD_6_71	HAMIDEHSGH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84896	NCIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucolipidosis_Type_IV	CSEO	LOOM
http://purl.obolibrary.org/obo/OMIM_252650	CCO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072930	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0009653	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_578	ORDO	LOOM