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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: Ataxia (D001259)
Parent Node: Muscle Hypotonia (D009123)
Parent Node: Speech Disorders (D013064)
..Starting node ..Atonic-Astatic Syndrome of Foerster (C565926)
Child Nodes:
Sister Nodes:
..Aphasia (D001037) 6
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Articulation Disorders (D001184) 7
..Atonic-Astatic Syndrome of Foerster (C565926)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Echolalia (D004454)
..Maxillofacial Dysostosis (C563599)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mutism (D009155)
..Non-lissencephalic cortical dysplasia (C536243)
..Opticocochleodentate Degeneration (C563002)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Speech disturbance - use of faulty phrasing and unrelated words (C538446)
..Stuttering (D013342) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1010

Name:

Atonic-Astatic Syndrome of Foerster

Definition:

Alternative IDs:

ParentIDs:

MESH:D001259|MESH:D009123|MESH:D013064

TreeNumbers:

C10.597.350.090/C565926 |C10.597.606.150.500.800/C565926 |C10.597.613.575/C565926 |C23.888.592.350.090/C565926 |C23.888.592.604.150.500.800/C565926 |C23.888.592.608.575/C565926

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C565926
MeSH: C565926
OMIM: 209100;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0012651	Abasia
3	HP:0001251	Ataxia
4	HP:0001290	Generalized hypotonia
5	HP:0001252	Hypotonia
6	HP:0002540	Inability to walk

Disease Causing ClinVar Variants