Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_547 http://www.limics.org/hrdo/rdfns#pat_id_547
Preferred Name	Thanatophoric dysplasia
Synonyms	Thanatophoric dwarfism
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Thanatophoric dwarfism
prefLabel	Thanatophoric dysplasia
prevalence	<1 / 1 000 000
inheritance	Autosomal dominant
id_OMS	Q77.1
prefixIRI	hrdo:pat_id_547
id_Orpha	2655
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11
patType	disease
id_MedDRA	10049808
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22thanatophoric+dysplasia%22%5BTw%5D+OR+Thanatophoric+dwarfism%5BTW%5D%29+NOT+Medline%5BSB%5D%29+OR+%22thanatophoric+dysplasia%22%5BMH%5D
ageOfOnset	Neonatal/infancy
ageOfDeath	Before age 5

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