Coffin-Siris syndrome

Term ID

DOID:1925

Synonyms

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. (3)

References

GARD:6124
MESH:C536436
NCI:C35321
OMIM:PS135900
ORDO:1465
SNOMEDCT_US_2023_03_01:10007009
UMLS_CUI:C0265338

Ontology

Human Disease ( DOID:1925 )

Relationships

is a type of: autosomal dominant intellectual developmental disorder syndrome

autosomal dominant intellectual developmental disorder syndrome Show first 5 Terms
has subtype: Coffin-Siris syndrome 1 Coffin-Siris syndrome 2 Coffin-Siris syndrome 3 Coffin-Siris syndrome 4 Coffin-Siris syndrome 5 ... Show All 12 Terms

Coffin-Siris syndrome 1 Coffin-Siris syndrome 2 Coffin-Siris syndrome 3 Coffin-Siris syndrome 4 Coffin-Siris syndrome 5 Coffin-Siris syndrome 6 Coffin-Siris syndrome 7 Coffin-Siris syndrome 8 Coffin-Siris syndrome 9 Coffin-Siris syndrome 10 Coffin-Siris syndrome 11 Coffin-Siris syndrome 12 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations