Disease core ontology applied to Rare Diseases

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

Occipital horn syndrome
Synonyms

Ehlers-Danlos syndrome, type 9

Ehlers-Danlos syndrome type IX

EDS IX

X-linked cutis laxa
ID

http://www.limics.org/hrdo/rdfns#pat_id_7035
ageOfDeath

Any age
ageOfOnset

Variable
altLabel

Ehlers-Danlos syndrome, type 9

Ehlers-Danlos syndrome type IX

EDS IX

X-linked cutis laxa
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Occipital+horn+syndrome%22+OR+(cutis+laxa%2Fge+(chromosome+X+OR+ATP7A))
id_MeSH

C537860
id_MIM

304150
id_OMS

E83.0
id_Orpha

198
id_SNOMEDCT

59399004
id_UMLS

C0268353
inheritance

X-linked recessive
patType

disease
prefixIRI

hrdo:pat_id_7035
prefLabel

Occipital horn syndrome
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping