Coffin-Siris syndrome

Summary
Synonym
  • Dwarfism-Onychodysplasia
  • Fifth Digit Syndrome
  • Short Stature-Onychodysplasia.
Definition
An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
Super Class
autosomal dominant intellectual developmental disorder syndrome
External Links
Disease Ontology
DOID:1925
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
929 CD14 CD14 molecule
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6391 SDHC succinate dehydrogenase complex subunit C
6392 SDHD succinate dehydrogenase complex subunit D
6652 SORD sorbitol dehydrogenase
8794 TNFRSF10C TNF receptor superfamily member 10c
55907 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024