Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Glaucoma (D005901)
Parent Node: Intellectual Disability (D008607)
Parent Node: Paraparesis, Spastic (D020336)
..Starting node ..Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
Child Nodes:
Sister Nodes:
..Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia (C564330)
..Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques (C564329)
..Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia (C566188)
..Gemignani syndrome (C537678)
..Multiple Exostoses with Spastic Tetraparesis (C563566)
..Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10422

Name:

Spastic Paresis, Glaucoma, and Mental Retardation

Definition:

Alternative IDs:

ParentIDs:

MESH:D005901|MESH:D008607|MESH:D020336

TreeNumbers:

C10.597.606.643/C564809 |C10.597.636.500.500/C564809 |C11.525.381/C564809 |C23.888.592.604.646/C564809 |C23.888.592.643.500.500/C564809 |F03.550.600/C564809

Synonyms:

Slim Mappings:

Eye disease|Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564809
MeSH: C564809
OMIM: 270850;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000501	Glaucoma
3	HP:0001249	Intellectual disability
4	HP:0001258	Spastic paraplegia

Disease Causing ClinVar Variants