(Q3335660)

English

3-M syndrome

autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities

Le Merrer syndrome
Miller-McKusick-Malvaux syndrome
Yakut short stature syndrome
dolichospondylic dysplasia
gloomy face syndrome
three M syndrome

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autosomal recessive disease

1 reference

18 January 2022

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18 January 2022

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2 references

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000124006/Orphanet_2616

based on heuristic

inferred from an Open Targets association score over 0.7

CUL7

2 references

stated in

Identification of mutations in CUL7 in 3-M syndrome

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000044090/Orphanet_2616

based on heuristic

inferred from an Open Targets association score over 0.7

CCDC8

2 references

stated in

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000169515/Orphanet_2616

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

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exact match

http://purl.obolibrary.org/obo/DOID_0060241

1 reference

18 January 2022

http://identifiers.org/doid/DOID:0060241

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stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_2616

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Identifiers

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28 August 2019

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28 August 2019

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1 reference

18 January 2022

1 reference

imported from Wikimedia project

1 reference

28 August 2019

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imported from Wikimedia project

English Wikipedia

Genetics Home Reference Conditions ID

3-m-syndrome

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Microsoft Academic ID

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1 reference

28 August 2019

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28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

1 reference

28 August 2019

1 reference

28 August 2019

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(Q3335660)

3-M syndrome

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