| Disease Browser
|
Parent Node:
 Ichthyosis (D007057) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Muscle Spasticity (D009128) | ..Starting node
.. Koone Rizzo Elias syndrome (C537023)
|
Child Nodes:
|
Sister Nodes: | ..Ataxia, Spastic, with Congenital Miosis (C566247)
| ..Brooks-Wisniewski-Brown Syndrome (C563154)
| ..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
| ..Choreoathetosis/Spasticity, Episodic (C563401)
| ..Diaminopentanuria (C565630)
| ..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
| ..Fitzsimmons Walson Mellor syndrome (C537937)
| ..Koone Rizzo Elias syndrome (C537023)
| ..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
| ..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
| ..Methylenetetrahydrofolate reductase deficiency (C537357)
| ..Opticocochleodentate Degeneration (C563002)
| ..Powell Venencie Gordon syndrome (C538358)
| ..Seemanova Lesny syndrome (C537536)
| ..Spastic Ataxia (C564815)
| ..Spastic ataxia Charlevoix-Saguenay type (C536787)
| ..Wells Jankovic syndrome (C536692)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 6130 |
| Name: | Koone Rizzo Elias syndrome |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D007057|MESH:D008607|MESH:D009128 |
| TreeNumbers: | C05.651.512/C537023 |C10.597.606.643/C537023 |C10.597.613.550.550/C537023 |C16.131.831.512/C537023 |C16.614.492/C537023 |C17.800.428.333/C537023 |C17.800.804.512/C537023 |C23.888.592.604.646/C537023 |C23.888.592.608.550.550/C537023 |F03.550.600/C537023 |
| Synonyms: | Ichthyosis, mental retardation and asymptomatic spasticity |
| Slim Mappings: | Congenital abnormality|Infant-newborn disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease |
| Reference: |
MedGen: C537023
MeSH: C537023
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
|
