(Q21154067)

English

chromosome 1p32-p31 deletion syndrome

Human disease

1p31p32 microdeletion syndrome
CHROMOSOME 1p32-p31 DELETION SYNDROME
Del(1)(p31p32)
Monosomy 1p31p32
NFIA-related disorder

In more languages

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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

chromosomal deletion syndrome

1 reference

30 November 2020

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_0013396

partial deletion of the short arm of chromosome 1

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

30 November 2020

autosomal dominant disease

1 reference

30 November 2020

0 references

1 reference

13 August 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060409

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060409

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_401986

0 references

Identifiers

1 reference

30 November 2020

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

16 June 2023

(Q21154067)

chromosome 1p32-p31 deletion syndrome

Statements

Identifiers

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