Cell Culture Ontology

Last uploaded: July 23, 2014

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Preferred Name	Achondroplasia
Synonyms	Achondroplastic dwarfism Achondroplastic physique chondrodystrophia Achondroplasia ACH
Definitions	Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
ID	http://purl.obolibrary.org/obo/MONDO_0007037
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0007037
database_cross_reference	MESH:D000130 Orphanet:15 SCTID:86268005 ICD10CM:Q77.4 NANDO:1200877 UMLS:C0001080 MedDRA:10000452 icd11.foundation:24224082 NCIT:C34345 NANDO:2201009 OMIM:100800 MEDGEN:1289 DOID:4480 GARD:8173 NORD:711
definition	Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
has_exact_synonym	Achondroplastic physique chondrodystrophia Achondroplasia ACH
has_related_synonym	Achondroplastic dwarfism
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6332 https://github.com/monarch-initiative/mondo/issues/4948
id	MONDO:0007037
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label	Achondroplasia
notation	MONDO:0007037
preferred label	Achondroplasia
prefLabel	Achondroplasia
see also	https://rarediseases.info.nih.gov/diseases/8173/achondroplasia
skos_closeMatch	http://identifiers.org/meddra/10000452
skos_exactMatch	http://identifiers.org/medgen/1289 http://identifiers.org/mesh/D000130 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/24224082 http://purl.bioontology.org/ontology/ICD10CM/Q77.4 http://linkedlifedata.com/resource/umls/id/C0001080 http://identifiers.org/snomedct/86268005 http://purl.obolibrary.org/obo/DOID_4480 http://purl.obolibrary.org/obo/Orphanet_15 http://purl.obolibrary.org/obo/NCIT_C34345 https://omim.org/entry/100800
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019685 http://www.ebi.ac.uk/efo/EFO_0005571
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0018232

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0007037	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007037	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007037	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_4480	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	MONDO	LOOM
http://purl.org/skeletome/bonedysplasia#Achondroplasia	BDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000130	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	DOVES	LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080	MEDLINEPLUS	LOOM
http://purl.bioontology.org/ontology/OMIM/100800	OMIM	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A16	SNMI	LOOM
http://purl.bioontology.org/ontology/RCD/XE1M7	RCD	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110	RH-MESH	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia	PEDTERM	LOOM
http://www.projecthalo.com/aura#Achondroplasia	AURA	LOOM
http://identifiers.org/omim/100800	REXO	LOOM
http://identifiers.org/omim/100800	GEXO	LOOM
http://identifiers.org/omim/100800	RETO	LOOM
http://purl.jp/bio/4/id/200906065894508826	IOBC	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4	ICD10CM	LOOM
http://localhost/plosthes.2017-1#11376	PLOSTHES	LOOM
http://www.co-ode.org/ontologies/galen#Achondroplasia	GALEN	LOOM
urn:agi-pathway:uuid-708db1ba-e8b3-4b18-b3b1-e89e3e4a653f	BPT	LOOM
http://www.radlex.org/RID/RID34620	RADLEX	LOOM
http://purl.bioontology.org/ontology/MESH/D000130	MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/86268005	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/OMIM_100800	CCO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480	NATPRO	LOOM
http://www.orpha.net/ORDO/Orphanet_15	ORDO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_4480	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_4480	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_4480	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_4480	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_4480	FNS-H	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_148	HRDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41.00	RCTV2	LOOM
urn:agi-folder:achondroplasia	BPT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345	NCIT	LOOM
http://nanbyodata.jp/ontology/NANDO_1200877	NANDO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036720	PMAPP-PMO	LOOM
rgo:12490	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia	CSEO	LOOM
http://nanbyodata.jp/ontology/NANDO_2201009	NANDO	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4	ICD10	LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171	CRISP	LOOM
http://purl.obolibrary.org/obo/NCIT_C34345	BERO	LOOM
http://purl.obolibrary.org/obo/OMIT_0001572	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080	OCHV	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#628	OCHV	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000452	MEDDRA	LOOM