ZFIN Human Disease: Klippel-Feil syndrome

OBO ID: DOID:10426

Term Name:	Klippel-Feil syndrome		Search Ontology:
Synonyms:	autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry
Definition:	A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. (3)
References:	GARD:10280 ICD10CM:Q76.1 ICD9CM:756.16 MESH:D007714 NCI:C98967 OMIM:PS118100 ORDO:2345 SNOMEDCT_US_2023_03_01:268349005 UMLS_CUI:C0022738
Ontology:	Human Disease ( DOID:10426 )

Relationships

is a type of:	physical disorder spinal disease syndrome physical disorder spinal disease syndrome Show first 5 Terms
has subtype:	Klippel-Feil syndrome 1 Klippel-Feil syndrome 2 Klippel-Feil syndrome 3 Klippel-Feil syndrome 4 Klippel-Feil syndrome 1 Klippel-Feil syndrome 2 Klippel-Feil syndrome 3 Klippel-Feil syndrome 4 Show first 5 Terms

OTHER Klippel-Feil syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
meox1^tm26/tm26 (TU)	standard conditions	Dauer et al., 2018

PHENOTYPE No data available

CITATIONS (1)