(Q7316329)

English

restrictive dermopathy

human disease

lethal restrictive dermopathy
hyperkeratosis-contracture syndrome
tight skin contracture syndrome
RESTRICTIVE DERMOPATHY, LETHAL
Restrictive dermopathy
Tight Skin Contracture Syndrome, Lethal
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy

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No label defined

No description defined

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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

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

29 November 2020

0 references

multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010143

malformation syndrome with skin/mucosae involvement

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

15 May 2019

autosomal recessive disease

1 reference

29 November 2020

0 references

2 references

13 August 2019

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

3 references

13 August 2019

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000084073/Orphanet_1662

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060762

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0060762

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_1662

0 references

Identifiers

MeSH descriptor ID

C536920

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

28 August 2019

0 references

1 reference

29 November 2020

1 reference

imported from Wikimedia project

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010143

ICD-11 ID (Foundation)

713433700

0 references

Microsoft Academic ID

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

0 references

Sitelinks

Wikipedia(1 entry)

enwiki Restrictive dermopathy

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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