(Q55345908)

English

spasticity-ataxia-gait anomalies syndrome

human disease

Spasticity, Childhood-Onset, with Hyperglycinemia
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
SPAHGC
Childhood-onset spasticity with hyperglycinemia

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

cerebral degeneration

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0014803

nervous system heredodegenerative disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0014803

genetic movement disorder

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014803

rare genetic developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014803

lipoic acid biosynthesis defect

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

3 references

13 August 2019

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000182512/MONDO_0014803

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_401866

0 references

Identifiers

ICD-10-CM

E88.8

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

(Q55345908)

spasticity-ataxia-gait anomalies syndrome

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