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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: 46, XY Disorders of Sex Development (D058490)
Parent Node: Aniridia (D015783)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Intellectual Disability (D008607)
Parent Node: Wilms Tumor (D009396)
..Starting node ..WAGR Syndrome (D017624)
Child Nodes:
........Chromosome 11p Deletion Syndrome (C541598)
........Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
Sister Nodes:
..Denys-Drash Syndrome (D030321)
..Familial Wilms tumor 2 (C536853)
..Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor (C536399)
..WAGR Syndrome (D017624) 2
..Wilms Tumor 3 (C565991)
..Wilms Tumor 4 (C563336)
..WILMS TUMOR 5 (OMIM:601583)
..Wilms tumor and radial bilateral aplasia (C536707)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11690

Name:

WAGR Syndrome

Definition:

A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.

Alternative IDs:

OMIM:194072

ParentIDs:

MESH:D008607|MESH:D009396|MESH:D015783|MESH:D025063|MESH:D058490

TreeNumbers:

C04.557.435.595.950 |C04.588.945.947.535.585.950 |C04.700.635.950 |C10.597.606.643.969 |C11.250.060.950 |C11.270.060.950 |C11.941.375.060.950 |C12.706.316.096.875 |C12.758.820.750.585.950 |C12.777.419.473.585.950 |C13.351.875.253.096.875 |C13.351.937.820.535.585.95

Synonyms:

Slim Mappings:

Reference:

MedGen: D017624
MeSH: D017624
OMIM: 194072;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000142	Abnormal vagina morphology	HP:0040282
3	HP:0000130	Abnormality of the uterus	HP:0040283
4	HP:0000526	Aniridia	HP:0040281
5	HP:0001466	Contiguous gene syndrome
6	HP:0000028	Cryptorchidism	HP:0040282
7	HP:0000150	Gonadoblastoma	HP:0040283
8	HP:0000047	Hypospadias	HP:0040282
9	HP:0001249	Intellectual disability	HP:0040282
10	HP:0002667	Nephroblastoma	HP:0040282
11	HP:0000112	Nephropathy	HP:0040284
12	HP:0001513	Obesity	HP:0040283
13	HP:0000083	Renal insufficiency	HP:0040284
14	HP:0001428	Somatic mutation
15	HP:0010464	Streak ovary	HP:0040282

Disease Causing ClinVar Variants