Klippel-Feil Syndrome
Disease ID: disease_node_4529
Connections displayed (default: 10).
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| Dbxref | GARD:10280, ICD10CM:Q76.1, ICD9CM:756.16, MESH:D007714, MIM:PS118100, NCI:C98967, ORDO:2345, SNOMEDCT_US_2023_03_01:268349005, UMLS_CUI:C0022738 |
|---|---|
| Subclassof | DOID_0080015, DOID_225, DOID_0060564 |
| Data Source | DOID, MESH |
| Synonyms | Klippel-Feil and Turner syndrome, Klippel-Feil deformity, deafness and facial asymmetry, autosomal dominant Klippel-Feil syndrome, congenital dystrophia brevicollis, congenital synostosis of cervical vertebrae |
| Mesh Id | D007714 |
| Mesh Label | Klippel-Feil Syndrome |
| Mesh Subclassof | D004413, D009139 |
| Doid Label | Klippel-Feil syndrome |
| Doid Description | A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_4529 |
| Doid Id | DOID_10426 |
| Label | Klippel-Feil Syndrome |
| Doid Alternate Ids | DOID_14747 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Klippel-Feil Syndrome 1(ID:disease_node_17383) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Klippel-Feil Syndrome 4(ID:disease_node_17380) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Klippel-Feil Syndrome 2(ID:disease_node_17382) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spinal Disease(ID:disease_node_14241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Klippel-Feil Syndrome 3(ID:disease_node_17381) (Disease)