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: Coloboma (D003103)
Parent Node: Growth Disorders (D006130)
Parent Node: Hearing Loss, Central (D006313)
..Starting node ..Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness (C564769)
Child Nodes:
Sister Nodes:
..Auditory neuropathy (C538268)
..Auditory Neuropathy, Autosomal Dominant, 1 (C563790)
..Deafness nephritis ano rectal malformation (C535996)
..Deafness, autosomal dominant nonsyndromic sensorineural 3 (C538200)
..Deafness, autosomal dominant nonsyndromic sensorineural 53 (C538201)
..Deafness, autosomal recessive 51 (C538202)
..Deafness, autosomal recessive 55 (C538203)
..Deafness, Neural, Congenital Moderate (C565640)
..Deafness, neurosensory, autosomal recessive 47 (C538205)
..Groll Hirschowitz syndrome (C537305)
..Jensen syndrome (C537568)
..Mitochondrial myopathy with lactic acidosis (C537476)
..Optic atrophy polyneuropathy deafness (C537129)
..Ruzicka Goerz Anton syndrome (C537192)
..Santos Mateus Leal syndrome (C537235)
..Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness (C564769)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11032

Name:

Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness

Definition:

Alternative IDs:

ParentIDs:

MESH:D003103|MESH:D006130|MESH:D006313

TreeNumbers:

C09.218.458.341.887.432/C564769 |C09.218.807.186.432/C564769 |C10.228.140.068.432/C564769 |C10.597.751.418.341.887.432/C564769 |C11.250.110/C564769 |C16.131.384.282/C564769 |C23.550.393/C564769 |C23.888.592.763.393.341.887.432/C564769

Synonyms:

Slim Mappings:

Reference:

MedGen: C564769
MeSH: C564769
OMIM: 274205;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0009738	Abnormality of the antihelix
3	HP:0000518	Cataract
4	HP:0000567	Chorioretinal coloboma
5	HP:0000028	Cryptorchidism
6	HP:0001263	Global developmental delay
7	HP:0000365	Hearing impairment
8	HP:0009778	Short thumb

Disease Causing ClinVar Variants