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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ataxia Telangiectasia (D001260)
Parent Node: Hyperpigmentation (D017495)
..Starting node ..Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death (C565930)
Child Nodes:
Sister Nodes:
..Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death (C565930)
..Dermatopathia pigmentosa reticularis (C535374)
..dowling-degos disease (C562924)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Hyperkeratosis-Hyperpigmentation Syndrome (C564172)
..Hyperpigmentation of Eyelids (C562400)
..Hyperpigmentation of Fuldauer and Kuijpers (C564164)
..Hyperpigmentation, Familial Progressive (C564163)
..HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2 (OMIM:145250)
..Melanosis (D008548) 18
..Melanosis, Universal (C563594)
..Patterson pseudoleprechaunism syndrome (C536310)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

993

Name:

Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death

Definition:

Alternative IDs:

ParentIDs:

MESH:D001260|MESH:D017495

TreeNumbers:

C10.228.140.252.190.530.060/C565930 |C10.562.100/C565930 |C10.597.350.090.500.530.060/C565930 |C14.907.823.213/C565930 |C16.320.080/C565930 |C17.800.621.430/C565930 |C18.452.284.060/C565930 |C20.673.290/C565930

Synonyms:

Slim Mappings:

Reference:

MedGen: C565930
MeSH: C565930
OMIM: 208910;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003220	Abnormality of chromosome stability
3	HP:0000777	Abnormality of the thymus
4	HP:0001251	Ataxia
5	HP:0040012	Chromosome breakage
6	HP:0000524	Conjunctival telangiectasia
7	HP:0001522	Death in infancy
8	HP:0002720	Decreased circulating IgA level
9	HP:0001332	Dystonia
10	HP:0006254	Elevated alpha-fetoprotein
11	HP:0007380	Facial telangiectasia
12	HP:0007440	Generalized hyperpigmentation
13	HP:0001952	Glucose intolerance
14	HP:0040270	Impaired glucose tolerance
15	HP:0007181	Interosseus muscle atrophy
16	HP:0009473	Joint contracture of the hand
17	HP:0001909	Leukemia
18	HP:0000657	Oculomotor apraxia
19	HP:0009067	Progressive spinal muscular atrophy

Disease Causing ClinVar Variants