(Q9390463)

28 July 2018

developmental defect during embryogenesis

1 reference

autosomal recessive disease

28 July 2018

0 references

0 references

2 references

congenital disorder of glycosylation-related bone disorder

28 July 2018

30 November 2020

1 reference

28 July 2018

syndrome with brachydactyly

1 reference

28 July 2018

congenital disorder of glycosylation with deafness as a major feature

1 reference

28 July 2018

non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

1 reference

28 July 2018

disorder of O-xylosylglycan synthesis

1 reference

28 July 2018

malformation syndrome with odontal and/or periodontal component

1 reference

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

28 July 2018

1 reference

30 November 2020

Temtamy.jpg
1,200 × 801; 161 KB

0 references

0 references

3 references

13 August 2019

Open Targets Platform

https://platform.opentargets.org/evidence/ENSG00000131873/MONDO_0011533

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0050814

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0050814

1 reference

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

Identifiers.org

reference URL

http://www.orpha.net/ORDO/Orphanet_363417

0 references

Identifiers

MeSH descriptor ID

C536958

mapping relation type

1 reference

28 July 2018

0 references

1 reference

30 November 2020

2 references

Google Knowledge Graph ID

28 July 2018

28 August 2019

0 references

1 reference

28 July 2018

0 references

1 reference

28 August 2019

mapping relation type

1 reference

28 July 2018

mapping relation type

1 reference