Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

GTP cyclohydrolase I deficiency
Synonyms

GTPCH deficiency

Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
ID

http://www.limics.org/hrdo/rdfns#pat_id_787
ageOfOnset

Neonatal/infancy
altLabel

GTPCH deficiency

Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=gtp+cyclohydrolase/df+OR+gtp+cyclohydrolase+defic*%5Btw%5D
id_MIM

233910
id_OMS

E70.1

E79.8
id_Orpha

2102
id_SNOMEDCT

23447005
id_UMLS

C0268467
inheritance

Autosomal recessive
patType

clinical subtype
prefixIRI

hrdo:pat_id_787
prefLabel

GTP cyclohydrolase I deficiency
prevalence

<1 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_2
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