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Metadata
ID DOID:1925
Name Coffin-Siris syndrome
Definition An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome, http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465
Xrefs

GARD:6124

MESH:C536436

NCI:C35321

OMIM:PS135900

ORDO:1465

SNOMEDCT_US_2018_03_01:10007009

UMLS_CUI:C0265338

Subsets

NCIthesaurus

Synonyms

Dwarfism-Onychodysplasia [EXACT]

Fifth Digit Syndrome [EXACT]

Short Stature-Onychodysplasia. [EXACT]

Parent Relationships

is_a autosomal dominant non-syndromic intellectual disability

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