Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Hypochondroplasia
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_161
ageOfDeath

Normal
ageOfOnset

Childhood
id_MedDRA

10020967
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22achondroplasia%22%5BMeSH+Major+Topic%5D+OR+%22osteochondrodysplasias%22%5BMeSH+Major+Topic%5D%29+AND+hypochondroplasia%5Btw%5D
id_MIM

146000
id_OMS

Q77.4
id_Orpha

429
id_SNOMEDCT

205468002
id_UMLS

C0410529
inheritance

Autosomal dominant
patType

disease
prefixIRI

hrdo:pat_id_161
prefLabel

Hypochondroplasia
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080041 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 MONDO LOOM
rgo:12509 GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41000 RCTV2 LOOM
http://purl.jp/bio/4/id/200906074978999972 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118697 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10020967 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/PG410 RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205468002 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/C562937 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_429 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562937 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#Hypochondroplasia BDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_14714 CLO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0410529 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C118697 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_146000 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080041 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080041 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0080041 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080041 FNS-H LOOM
http://identifiers.org/omim/146000 REXO LOOM
http://identifiers.org/omim/146000 GEXO LOOM
http://identifiers.org/omim/146000 RETO LOOM
http://nanbyodata.jp/ontology/NANDO_2201010 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/146000 OMIM LOOM