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: Brachydactyly (D059327)
Parent Node: Cerebellar Ataxia (D002524)
Parent Node: Nystagmus, Congenital (D020417)
..Starting node ..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
..Foveal Hypoplasia, Isolated (C565005)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..Mental retardation Mietens Weber type (C537444)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Nystagmus 1, congenital, X- linked (C537853)
..Nystagmus 2, congenital, autosomal dominant (C537854)
..Nystagmus 3, congenital, autosomal dominant (C537855)
..Nystagmus 4, congenital, autosomal dominant (C537856)
..NYSTAGMUS 5, CONGENITAL, X-LINKED (OMIM:300589)
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
..Nystagmus, Congenital Motor, Autosomal Recessive (C564938)
..O'Donnell Pappas syndrome (C537858)
..X-Linked Infantile Nystagmus (C580539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1410

Name:

Brachydactyly-Nystagmus-Cerebellar Ataxia

Definition:

Alternative IDs:

ParentIDs:

MESH:D002524|MESH:D020417|MESH:D059327

TreeNumbers:

C05.660.585.262/C566192 |C10.228.140.252.190/C566192 |C10.292.562.675.300/C566192 |C10.597.350.090.500/C566192 |C11.590.400.300/C566192 |C16.131.621.585.262/C566192 |C16.614.643/C566192 |C23.888.592.350.090.200/C566192

Synonyms:

Slim Mappings:

Reference:

MedGen: C566192
MeSH: C566192
OMIM: 113400;

Genes:

Phenotypes

1	HP:0001251	Ataxia
2	HP:0001156	Brachydactyly
3	HP:0001249	Intellectual disability
4	HP:0000639	Nystagmus
5	HP:0010049	Short metacarpal
6	HP:0010743	Short metatarsal
7	HP:0000486	Strabismus

Disease Causing ClinVar Variants