(Q4669630)

English

Abruzzo–Erickson syndrome

human disease

Cleft palate-coloboma-deafness syndrome
ABRUZZO-ERICKSON SYNDROME; ABERS
Charge-Like Syndrome, X-Linked
ABERS
CHARGE-like syndrome
CHARGE like syndrome X-linked
ABRUZZO-ERICKSON SYNDROME
Abruzzo-Erickson syndrome

In more languages

Statements

head and neck disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

genetic deafness

0 references

0 references

cleft lip and cleft palate

0 references

multiple congenital anomalies/dysmorphic syndrome without intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

orofacial clefting syndrome

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic urogenital tract malformation

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

X-linked disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

genetic association

2 references

UniProt protein ID

13 August 2019

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

http://www.orpha.net/ORDO/Orphanet_921

0 references

http://purl.obolibrary.org/obo/DOID_0111826

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111826

1 reference

Identifiers.org

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

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

GARD rare disease ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Microsoft Academic ID

0 references

0 references

mapping relation type

2 references

imported from Wikimedia project

English Wikipedia

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(4 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)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q4669630&oldid=2087124914"