Details of Disease

General Information of Disease (ID: DISYBBKP)

Disease Name Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Synonyms
neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity; NEDBASS; NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISYBBKP: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Disease Identifiers
MONDO ID
MONDO_0030046
UMLS CUI
C5394423
OMIM ID
618890
MedGen ID
1711516

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTPN23 OT5WDPXB Strong Autosomal recessive [1]
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References

1 [An increase in health needs and the role of nursing. Re-evaluation of primary nursing - substantial expansion of the role of nurses]. Kango Tenbo. 1978 Feb;3(2):122-6.