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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: Waardenburg Syndrome (D014849)
..Starting node ..Waardenburg syndrome type 2 (C536463)
Child Nodes:
Sister Nodes:
..ABCD syndrome (C535334)
..Anophthalmos with limb anomalies (C537769)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome (C538657)
..Waardenburg syndrome type 2 (C536463)
..Waardenburg syndrome type 2A (C536464)
..Waardenburg syndrome type 2B (C536465)
..Waardenburg Syndrome, Type 2C (C564684)
..Waardenburg Syndrome, Type 2D (C563839)
..Waardenburg syndrome, type 4 (C536467) 1
..Waardenburg Syndrome, Type 4b (C567680)
..Waardenburg Syndrome, Type 4c (C567679)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11681

Name:

Waardenburg syndrome type 2

Definition:

Alternative IDs:

OMIM:611584

ParentIDs:

MESH:D014849

TreeNumbers:

C16.131.077.938/C536463

Synonyms:

HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION |Waardenburg Syndrome, Type 2E |Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement |Waardenburg Syndrome, Type IIE |WS2E |WS2E, WITH OR WITHOUT NEUROL

Slim Mappings:

Congenital abnormality

Reference:

MedGen: C536463
MeSH: C536463
OMIM: 611584;

Genes: SOX10;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000458	Anosmia	HP:0040283
3	HP:0011381	Aplasia of the semicircular canal
4	HP:0000635	Blue irides
5	HP:0000957	Cafe-au-lait spot
6	HP:0006808	Cerebral hypomyelination
7	HP:0011379	Dilated vestibule of the inner ear
8	HP:0001263	Global developmental delay
9	HP:0001100	Heterochromia iridis
10	HP:0001425	Heterogeneous
11	HP:0001276	Hypertonia
12	HP:0007894	Hypopigmentation of the fundus
13	HP:0001053	Hypopigmented skin patches
14	HP:0007676	Hypoplasia of the iris
15	HP:0011382	Hypoplasia of the semicircular canal
16	HP:0001249	Intellectual disability
17	HP:0008936	Muscular hypotonia of the trunk
18	HP:0000639	Nystagmus
19	HP:0001107	Ocular albinism	HP:0040283
20	HP:0000767	Pectus excavatum
21	HP:0003812	Phenotypic variability
22	HP:0002216	Premature graying of hair
23	HP:0000407	Sensorineural hearing impairment
24	HP:0002226	White eyebrow
25	HP:0002227	White eyelashes
26	HP:0002211	White forelock

Disease Causing ClinVar Variants