Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
Jump to:
loading...
Preferred Name

COFS syndrome
Synonyms

Pena-Shokeir syndrome type 2

Cerebrooculofacioskeletal syndrome
ID

http://www.limics.org/hrdo/rdfns#pat_id_1649
ageOfDeath

Child / adolescent
ageOfOnset

Neonatal/infancy
altLabel

Pena-Shokeir syndrome type 2

Cerebrooculofacioskeletal syndrome
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cofs[ti]+OR+%28Cerebro[ti]+oculo[ti]+%28facio[ti]+OR+facial[ti]+OR+facioskeletal[ti]%29+%28skeletal[ti]+OR+facioskeletal[ti]%29%29
id_MIM

214150

610756

610758
id_OMS

Q87.1
id_Orpha

1466
inheritance

Autosomal recessive
patType

clinical subtype
prefixIRI

hrdo:pat_id_1649
prefLabel

COFS syndrome
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_2
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display