lethal neonatal spasticity-epileptic encephalopathy syndrome
human disease
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lethal neonatal spasticity-epileptic encephalopathy syndrome
Summary
lethal neonatal spasticity-epileptic encephalopathy syndrome is a rare disease[1].
Key Facts
- lethal neonatal spasticity-epileptic encephalopathy syndrome's instance of is recorded as rare disease[2].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's instance of is recorded as class of disease[3].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's subclass of is recorded as monogenic disease with epilepsy[4].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's OMIM ID is recorded as 614498[5].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's Orphanet ID is recorded as 435845[6].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's NCI Thesaurus ID is recorded as C154618[7].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's genetic association is recorded as BRAT1[8].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_435845[9].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's UMLS CUI is recorded as C3281029[10].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's ICD-10-CM is recorded as G40.4[11].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's Mondo ID is recorded as MONDO_0013784[12].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's UniProt disease ID is recorded as DI-03404[13].
- lethal neonatal spasticity-epileptic encephalopathy syndrome's Experimental Factor Ontology ID is recorded as 0009144[14].