(Q55784600)

English

hypomyelination with brain stem and spinal cord involvement and leg spasticity

human disease

HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
HBSL
Aspartyl-Trna Synthetase Deficiency

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2 references

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000115866/MONDO_0014115

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_363412

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Identifiers

KEGG ID

H02433

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Genetics Home Reference Conditions ID

hypomyelination-with-brainstem-and-spinal-cord-involvement-and-leg-spasticity

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ICD-10-CM

E75.2

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q55784600)

hypomyelination with brain stem and spinal cord involvement and leg spasticity

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