(Q18553375)

English

distal arthrogryposis

muscle tissue disease characterized by congenital joint contractures of hand and feet

Arthrogryposis Multiplex Congenita
Freeman-Sheldon syndrome
Freeman-Sheldon syndrome variant
Sheldon-Hall syndrome
Contractures of Fingers and Jaw
ARTHROGRYPOSIS, DISTAL, TYPE 2E

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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

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neurogenic arthrogryposis multiplex congenita

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muscle tissue disease

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30 November 2020

1 reference

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

ECEL1

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stated in

Mutations in ECEL1 cause distal arthrogryposis type 5D

PIEZO2

1 reference

stated in

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

TPM2

1 reference

stated in

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://identifiers.org/doid/DOID:0050646

1 reference

stated in

Identifiers.org

reference URL

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

http://purl.obolibrary.org/obo/DOID_0050646

1 reference

30 November 2020

http://www.orpha.net/ORDO/Orphanet_1147

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http://www.orpha.net/ORDO/Orphanet_97120

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Identifiers

MeSH descriptor ID

C535384

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007364

PatientsLikeMe condition ID

distal-arthrogryposis

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1 reference

30 November 2020

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28 August 2019

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1 reference

28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

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15 May 2019

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28 August 2019

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28 August 2019

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28 August 2019

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28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007364

(Q18553375)

distal arthrogryposis

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