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: Deafness (D003638)
Parent Node: Esophageal Achalasia (D004931)
Parent Node: Vitiligo (D014820)
..Starting node ..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
Child Nodes:
Sister Nodes:
..Alopecia universalis onychodystrophy vitiligo (C537056)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:608391)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:608392)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4 (OMIM:609400)
..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
..Spastic paraplegia 23 (C536859)
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (OMIM:606579)
..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 (OMIM:193200)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3108

Name:

Deafness, Congenital, with Vitiligo and Achalasia

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638|MESH:D004931|MESH:D014820

TreeNumbers:

C06.405.117.119.500.432/C565642 |C09.218.458.341.186/C565642 |C10.597.751.418.341.186/C565642 |C17.800.621.440.895/C565642 |C23.888.592.763.393.341.186/C565642

Synonyms:

Slim Mappings:

Digestive system disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms|Skin disease

Reference:

MedGen: C565642
MeSH: C565642
OMIM: 221350;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002571	Achalasia
3	HP:0000365	Hearing impairment
4	HP:0004322	Short stature
5	HP:0003202	Skeletal muscle atrophy
6	HP:0001045	Vitiligo

Disease Causing ClinVar Variants