MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: disease of catalytic activity (MONDO:0044976)
Parent Node: gangliosidosis (MONDO:0017719)
Parent Node: lysosomal storage disease with skeletal involvement (MONDO:0019706)
Parent Node: metabolic disease with macular cherry-red spot (MONDO:0020282)
Parent Node: nervous system anomaly with eye involvement (MONDO:0020262)
Parent Node: unclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node ..GM1 gangliosidosis ()
Child Nodes:
........GM1 gangliosidosis type 1 ()
........GM1 gangliosidosis type 2 ()
........GM1 gangliosidosis type 3 ()
Sister Nodes:
..autosomal dominant osteopetrosis 2 ()
..Bardet-Biedl syndrome ()
..cone-rod dystrophy ()
..congenital hypotrichosis with juvenile macular dystrophy ()
..cystoid macular edema ()
..enhanced S-cone syndrome ()
..Farber lipogranulomatosis ()
..foveal hypoplasia-presenile cataract syndrome ()
..galactosialidosis ()
..GM1 gangliosidosis ()
..Hermansky-Pudlak syndrome 2 ()
..infantile Refsum disease ()
..Krabbe disease ()
..Laurence-Moon syndrome ()
..Leigh disease ()
..metachromatic leukodystrophy ()
..mucolipidosis type IV ()
..neuronal ceroid lipofuscinosis ()
..Niemann-Pick disease type C ()
..Rubinstein-Taybi syndrome ()
..Sjogren-Larsson syndrome ()
..Sorsby's fundus dystrophy ()
..X-linked retinoschisis ()
..Zellweger syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18149
Name:	GM1 gangliosidosis
Definition:	GM1 gangliosidosis is 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.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Beta galactosidase 1 deficiency; Beta-galactosidase deficiency; beta-galactosidase deficiency; Beta-galactosidase-1 deficiency; Beta-galactosidosis; deficiency of beta-galactosidase; gangliosidosis GM1; GLB 1 deficiency; GLB1 deficiency; GM>1< gangliosidosis; Landing disease; Landing syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal