(Q55780775)

English

Frontorhiny

No description defined

ALX3-related frontonasal dysplasia
Frontonasal Dysplasia type 1
FND1
Isolated median cleft face syndrome
FRONTONASAL DYSPLASIA 1
FRONTONASAL DYSPLASIA 1; FND1
Frontonasal Malformation
Frontonasal Dysplasia
Median Facial Cleft 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

median facial cleft

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare head and neck malformation

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

midface dysplasia

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000156150/MONDO_0007636

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_391474

0 references

Identifiers

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

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