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Preferred Name

Rhizomelic chondrodysplasia punctata type 3
ID

http://www.orpha.net/ORDO/Orphanet_309803
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803
hasDbXref

OMIM:600121

ICD-11:LD24.04

ICD-10:Q77.3

UMLS:C1838612
label

Rhizomelic chondrodysplasia punctata type 3
notation

Etiological subtype

ORPHA:309803
part_of

http://www.orpha.net/ORDO/Orphanet_177
prefixIRI

ORDO:Orphanet_309803
prefLabel

Rhizomelic chondrodysplasia punctata type 3
treeView

http://www.orpha.net/ORDO/Orphanet_177
subClassOf

http://www.orpha.net/ORDO/Orphanet_557494
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0110853 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010823 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010823 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/600121 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://www.orpha.net/ORDO/Orphanet_309803 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/MESH/C537608 Medical Subject Headings / 医学主题词表 LOOM