sameAs
Infantile spasms in COFS syndromePharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne SyndromeRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordObservational Study to Assess Natural History in Cockayne Syndrome Patients
P921
description
Cerebro-Oculo-Facio-Skelett
@de
disease
@en
genetycznie uwarunkowany zespół wad wrodzonych, dziedziczony autosomalnie recesywnie.
@pl
name
COFS syndrome
@en
COFS-Syndrom
@de
Zespół mózgowo-oczno-twarzowo-szkieletowy
@pl
syndrome COFS
@fr
type
label
COFS syndrome
@en
COFS-Syndrom
@de
Zespół mózgowo-oczno-twarzowo-szkieletowy
@pl
syndrome COFS
@fr
altLabel
CAMFAK syndrome
@en
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME
@en
Camak Syndrome
@en
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
@en
Cataract-microcephaly-failure to thrive-kyphoscoliosis
@en
Cerebro-Oculo-Facio-Skeletal Syndrome
@en
Cockayne Syndrome type II
@en
Pena Shokeir syndrome type II
@en
Pena-Shokeir syndrome type 2
@en
Pena-Shokeir syndrome type II
@en
prefLabel
COFS syndrome
@en
COFS-Syndrom
@de
Zespół mózgowo-oczno-twarzowo-szkieletowy
@pl
syndrome COFS
@fr
P1550
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P5270
MONDO:0008926