Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDiabetes Mellitus (D003920)
Parent Node:
expandEpilepsy (D004827)
Parent Node:
expandInfant, Newborn, Diseases (D007232)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)

       Child Nodes:



 Sister Nodes: 
..expandApraxias (D001072) Child10
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHypomyelination, Global Cerebral (C567847)
..expandIchthyosis prematurity syndrome (C536271)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMegarbane syndrome (C536145)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3256
Name:Developmental Delay, Epilepsy, and Neonatal Diabetes
Definition:
Alternative IDs:
ParentIDs:MESH:D003920|MESH:D004827|MESH:D007232|MESH:D011596
TreeNumbers:C10.228.140.490/C565253 |C10.597.606.881/C565253 |C16.614/C565253 |C18.452.394.750/C565253 |C19.246/C565253 |C23.888.592.604.882/C565253
Synonyms:
Slim Mappings:Endocrine system disease|Infant-newborn disease|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C565253
MeSH: C565253
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants