(Q890470)

English

Legius syndrome

rare genetic skin pigmentation disorder characterized by multiple cafe-au-lait macules

Neurofibromatosis Type 1-Like Syndrome
Neurofibromatosis type 1 like syndrome
LEGIUS SYNDROME
NF1-like syndrome
Neurofibromatosis 1-like syndrome

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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

pigmentation disorder

0 references

hyperpigmentation of the skin

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012669

malformation syndrome with hamartosis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012669

neuro-cardio-facial-cutaneous syndromes

0 references

5 references

13 August 2019

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/3ba44430-8f71-4b94-a6f1-7f66d3a27897--2019-01-24T05:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ba44430-8f71-4b94-a6f1-7f66d3a27897-2019-01-24T050000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000166068/MONDO_0012669

based on heuristic

inferred from an Open Targets association score over 0.7

ICD-9-CM

709.09

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_137605

0 references

Identifiers

MeSH descriptor ID

C548032

mapping relation type

exact match

subject named as

Legius syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012669

Genetics Home Reference Conditions ID

0 references

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Microsoft Academic ID

0 references

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

0 references

(Q890470)

Legius syndrome

Statements

Identifiers

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