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DO Term : Klippel-Feil syndrome [DOID:10426] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

synonyms:
Klippel-Feil and Turner syndrome,
OMIM:PS118100,
PS118100,
SNOMEDCT_US_2023_03_01:268349005,
GARD:10280,
Klippel-Feil deformity, deafness and facial asymmetry,
ORDO:2345,
UMLS_CUI:C0022738,
NCI:C98967,
ICD10CM:Q76.1,
MESH:D007714,
congenital dystrophia brevicollis,
congenital synostosis of cervical vertebrae,
DOID:14747,
ICD9CM:756.16,
autosomal dominant Klippel-Feil syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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