Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Usher Syndromes (D052245)
..Starting node ..Usher syndrome, type 1E (C536488)
Child Nodes:
Sister Nodes:
..Usher syndrome, type 1B (C536485)
..Usher syndrome, type 1C (C536486)
..Usher syndrome, type 1D (C536487)
..Usher syndrome, type 1E (C536488)
..Usher syndrome, type 1F (C536489)
..Usher syndrome, type 2A (C536490)
..Usher syndrome, type 2B (C536491)
..Usher syndrome, type 2C (C536492)
..Usher Syndrome, Type Ib (C564755)
..Usher Syndrome, Type IC (C564753)
..Usher Syndrome, Type ID (C563400)
..Usher Syndrome, Type ID/F (C567409)
..Usher Syndrome, Type IE (C566577)
..Usher Syndrome, Type IF (C566586)
..Usher Syndrome, Type IG (C564643)
..Usher Syndrome, Type IH (C567227)
..USHER SYNDROME, TYPE IID (OMIM:611383)
..USHER SYNDROME, TYPE IIIA (OMIM:276902)
..USHER SYNDROME, TYPE IJ (OMIM:614869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11447

Name:

Usher syndrome, type 1E

Definition:

Alternative IDs:

OMIM:602097

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/C536488 |C09.218.458.341.887.886/C536488 |C10.597.751.418.341.186.500.500/C536488 |C10.597.751.418.341.887.886/C536488 |C10.597.751.941.162.625.500/C536488 |C11.768.585.658.500.813/C536488 |C11.966.075.375.500/C536488 |C16.131.077.29

Synonyms:

USH1E |USHER SYNDROME, TYPE IE

Slim Mappings:

Reference:

MedGen: C536488
MeSH: C536488
OMIM: 602097;

Genes: USH1E;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008527	Congenital sensorineural hearing impairment
3	HP:0000510	Rod-cone dystrophy
4	HP:0008568	Vestibular areflexia

Disease Causing ClinVar Variants