Temtamy preaxial brachydactyly syndrome (Q9390463)

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human disease

preaxial brachydactyly syndrome, Temtamy type
TPBS
Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies
TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS
TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Language	Label	Description	Also known as
English	Temtamy preaxial brachydactyly syndrome	human disease	preaxial brachydactyly syndrome, Temtamy type TPBS Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

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

autosomal recessive disease

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

30 November 2020

Disease Ontology ID

congenital disorder of glycosylation-related bone disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndrome with brachydactyly

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

congenital disorder of glycosylation with deafness as a major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

disorder of O-xylosylglycan synthesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

malformation syndrome with odontal and/or periodontal component

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

Temtamy.jpg
1,200 × 801; 161 KB

0 references

symptoms and signs

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

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

Open Targets Platform

24 August 2023

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

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

Disease Ontology

30 November 2020

Disease Ontology ID

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

1 reference

Identifiers.org

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

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

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

GARD rare disease ID

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

28 August 2019

Disease Ontology ID

Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

Sitelinks

Wikipedia(2 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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