Preferred Name

Laron Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130994

ALT_DEFINITION

Growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the GHR gene, encoding the growth hormone receptor.

code

C130994

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467

Contributing_Source

NICHD

DEFINITION

Growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the GHR gene, encoding the growth hormone receptor.

FULL_SYN

Growth Hormone Receptor Deficiency

Laron Syndrome

label

Laron Syndrome

NCI_META_CUI

CL513965

Preferred_Name

Laron Syndrome

prefixIRI

Thesaurus:C130994

prefLabel

Laron Syndrome

Semantic_Type

Disease or Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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http://purl.obolibrary.org/obo/DOID_9521 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_9521 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009877 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009877 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_633 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/262500 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/D046150 Medical Subject Headings / 医学主题词表 LOOM