(Q55785133)

English

short stature-brachydactyly-obesity-global developmental delay syndrome

human disease

SBIDDS
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

acromelic dysplasia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic obesity

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000132600/MONDO_0014944

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_464288

0 references

Identifiers

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

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 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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