Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	GM1 gangliosidosis
Synonyms	GLB 1 deficiency Beta galactosidase 1 deficiency Beta-galactosidosis Landing disease Beta-galactosidase-1 deficiency beta-galactosidase deficiency gangliosidosis GM1 deficiency of beta-galactosidase Landing syndrome GLB1 deficiency Beta-galactosidase deficiency GM>1< gangliosidosis
Definitions	A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
ID	http://purl.obolibrary.org/obo/MONDO_0018149
database_cross_reference	SCTID:238025006 DOID:3322 NANDO:1200066 UMLS:C0085131 GARD:10891 NCIT:C84739 MEDGEN:43107 SCTID:124465002 icd11.foundation:401105928 NANDO:2200558 ICD9:277.6 MESH:D016537 Orphanet:354
definition	A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
has_exact_synonym	Landing disease Beta-galactosidase-1 deficiency beta-galactosidase deficiency gangliosidosis GM1 deficiency of beta-galactosidase Landing syndrome GLB1 deficiency Beta-galactosidase deficiency GM>1< gangliosidosis
has_related_synonym	GLB 1 deficiency Beta galactosidase 1 deficiency Beta-galactosidosis
IAO_0000233	https://github.com/monarch-initiative/mondo/pull/2571/
id	MONDO:0018149
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	GM1 gangliosidosis
notation	MONDO:0018149
prefLabel	GM1 gangliosidosis
skos_exactMatch	http://identifiers.org/snomedct/238025006 http://identifiers.org/snomedct/124465002 http://identifiers.org/medgen/43107 http://purl.obolibrary.org/obo/NCIT_C84739 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/401105928 http://purl.obolibrary.org/obo/DOID_3322 http://linkedlifedata.com/resource/umls/id/C0085131 http://purl.obolibrary.org/obo/Orphanet_354 http://identifiers.org/mesh/D016537
treeView	http://purl.obolibrary.org/obo/MONDO_0005381 http://purl.obolibrary.org/obo/MONDO_0005328 http://purl.obolibrary.org/obo/MONDO_0017719
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0015368
subClassOf	http://purl.obolibrary.org/obo/MONDO_0005381 http://purl.obolibrary.org/obo/MONDO_0005328 http://purl.obolibrary.org/obo/MONDO_0017719

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0018149	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018149	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018149	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_3322	DOID	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/238025006	SNOMEDCT	LOOM
http://nanbyodata.jp/ontology/NANDO_2200558	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_354	ORDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84739	NCIT	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_643	HRDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200066	NANDO	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/untitled-ontology-14#6_10	HAMIDEHSGH	LOOM
http://purl.obolibrary.org/obo/NCIT_C84739	BERO	LOOM
rgo:29055	GAMUTS	LOOM
http://purl.bioontology.org/ontology/RCD/X40V7	RCD	LOOM
http://purl.obolibrary.org/obo/DERMO_0003429	DERMO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#GM1_Gangliosidosis	CSEO	LOOM
http://purl.obolibrary.org/obo/DOID_3322	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_3322	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_3322	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_3322	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_3322	FNS-H	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083308	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0018149	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018149	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018149	DOVES	LOOM