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Metadata
ID DOID:1925
Name Coffin-Siris syndrome
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.
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

MIM:PS135900

NCI:C35321

ORDO:1465

SNOMEDCT_US_2023_03_01:10007009

UMLS_CUI:C0265338

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Dwarfism-Onychodysplasia [EXACT]

Fifth Digit Syndrome [EXACT]

Short Stature-Onychodysplasia. [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant intellectual developmental disorder

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