Coffin-Siris syndrome (Q2348105)
genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability
Language:
Current Data About Coffin-Siris syndrome
(P18) Image Provided By https://upload.wikimedia.org/wikipedia/commons/9/95/Coffin-Siris_syndrome%2C_boy.jpg
(P2096) "Noi de 16 anys amb la síndrome de Coffin-Siris amb [[mutacions]] en el [[gen]] ARID1B, mostrant una discreta [[microcefàlia]]" (language: ca)

(P31) (Q929833)

(Q112193867)

(P138) (Q101113319)

(P279) (Q179630)
(P248)
(P813) Wednesday, May 15, 2019
(P699) DOID:1925

(Q19587382)
(P248)
(P813) Wednesday, May 15, 2019
(P699) DOID:1925

(P373) Coffin-Siris syndrome

(P1748) C35321
(P248)
(P813) Wednesday, May 15, 2019
(P699) DOID:1925

(P2293) (Q18043083)
(P248)

(P2888) http://purl.obolibrary.org/obo/DOID_1925
(P248)
(P813) Wednesday, May 15, 2019
(P699) DOID:1925

http://identifiers.org/doid/DOID:1925
(P248)
(P854) http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

(P5008) (Q4099686)

other details
aliases Dwarfism-Onychodysplasia
 Fifth Digit Syndrome
 Short Stature-Onychodysplasia.
description genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability

External Links
(P486) C536436
(P492) 135900
(P557) 32018
(P646) /m/03c23vr
(P665) H01403
(P699) DOID:1925
(P1550) 1465
(P2892) C0265338
(P4317) 6124
(P5806) 10007009
(P6366) 2779916332