Ck Syndrome
Disease ID: disease_node_16850
Connections displayed (default: 10).
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| Dbxref | MIM:300831, ORDO:251383, SNOMEDCT_US_2023_03_01:773329005, UMLS_CUI:C3151781 |
|---|---|
| Subclassof | DOID_0080012, DOID_3146 |
| Data Source | DOID |
| Synonyms | X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome |
| Doid Label | CK syndrome |
| Doid Description | A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_16850 |
| Doid Id | DOID_0111898 |
| Label | Ck Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Lipid Metabolism, Inborn Errors(ID:disease_node_4772) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)