Coffin-Siris syndrome

Coffin-Siris syndrome

http://www.orpha.net/ORDO/Orphanet_1465

A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.

Synonyms:

CSS

Tree view
Term mappings

This is just here as a test because I lose it

Term information

database cross reference

OMIM:618779 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:618027 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:135900 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
MeSH:C536436 (E (Exact mapping: the two concepts are equivalent))
ICD-10:Q87.1 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet).)
OMIM:619325 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:614609 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:615866 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:614608 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:618362 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:616938 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:618506 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
OMIM:614607 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
UMLS:C0265338 (E (Exact mapping: the two concepts are equivalent))
OMIM:617808 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))

definition citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465

hasDbXref

ICD-10:Q87.1
OMIM:619325
OMIM:615866
OMIM:616938
OMIM:618027
MeSH:C536436
OMIM:618362
OMIM:135900
OMIM:614609
UMLS:C0265338
OMIM:618506
OMIM:618779
OMIM:617808
OMIM:614607
OMIM:614608

has age of onset

http://www.orpha.net/ORDO/Orphanet_409944

has cases/families value

190.0

has inheritance

http://www.orpha.net/ORDO/Orphanet_409929

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409979

notation

ORPHA:1465

part of

http://www.orpha.net/ORDO/Orphanet_102283
http://www.orpha.net/ORDO/Orphanet_139393
http://www.orpha.net/ORDO/Orphanet_498454
http://www.orpha.net/ORDO/Orphanet_611327

present in

http://www.orpha.net/ORDO/Orphanet_409991

Term relations

Subclass of:

Malformation syndrome

Related from:

disease-causing germline mutation(s) in

disease-causing germline mutation(s) (loss of function) in

AT-rich interaction domain 2