loading...| Preferred Name |
Klippel-Feil syndrome |
| Synonyms |
congenital synostosis of cervical vertebrae |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. |
| ID |
http://purl.obolibrary.org/obo/DOID_10426 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
UMLS_CUI:C0022738 GARD:10280 OMIM:PS118100 SNOMEDCT_US_2022_09_01:268349005 NCI:C98967 ICD10CM:Q76.1 MESH:D007714 ICD9CM:756.16 ORDO:2345 |
| definition |
A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. |
| has exact synonym |
congenital synostosis of cervical vertebrae Klippel-Feil deformity, deafness and facial asymmetry Klippel-Feil and Turner syndrome congenital dystrophia brevicollis autosomal dominant Klippel-Feil syndrome |
| has_alternative_id |
DOID:14747 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:10426 |
| in_subset | |
| label |
Klippel-Feil syndrome |
| notation |
DOID:10426 |
| prefLabel |
Klippel-Feil syndrome |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_225 |