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Preferred Name

Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125419
code

C125419
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source

Cellosaurus
DEFINITION

A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.
FULL_SYN

Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2

SEMDJL2
label

Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2
Preferred_Name

Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2
prefixIRI

Thesaurus:C125419
prefLabel

Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2
Semantic_Type

Disease or Syndrome
UMLS_CUI

C1863732
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0112199 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/603546 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM