(Q4673593)

English

acheiropody

Human disease

Horn-Kolb Syndrome
Acheiropodia
Acheiropody
ACHP
ACHEIROPODY; ACHP
Acheiropody, Brazilian Type

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

osteochondrodysplasia

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

non-syndromic terminal limb defects

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

medical genetics

0 references

genetic association

2 references

UniProt protein ID

13 August 2019

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0050603

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050603

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_931

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

0 references

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

WikiProjectMed ID

0 references

Sitelinks

Wikipedia(5 entries)

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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