(Q4352925)

English

Mal de Meleda

human disease

keratosis palmoplantaris transgrediens of Siemens
transgrediens palmoplantar keratoderma of Siemens
Meleda disease
MAL DE MELEDA; MDM
MDM
MAL DE MELEDA

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Statements

0 references

0 references

palmoplantar keratosis

1 reference

15 May 2019

autosomal recessive isolated diffuse palmoplantar keratoderma

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

3 references

13 August 2019

Mutations in the gene encoding SLURP-1 in Mal de Meleda

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000126233/MONDO_0009552

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

757.39

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0060862

1 reference

28 August 2019

http://identifiers.org/doid/DOID:0060862

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

http://www.orpha.net/ORDO/Orphanet_87503

0 references

Identifiers

0 references

1 reference

28 August 2019

1 reference

Genetic and Rare Diseases Information Center

retrieved

7 November 2019

reference URL

https://rarediseases.info.nih.gov/diseases/92/meleda-disease

0 references

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Microsoft Academic ID

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

(Q4352925)

Mal de Meleda

Statements

Identifiers

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