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:
expandChromosome Aberrations (D002869)
Parent Node:
expandChromosome Disorders (D025063)
Parent Node:
expandFacies (D019066)
Parent Node:
expandFailure to Thrive (D005183)
Parent Node:
expandHydrocephalus (D006849)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandEdinburgh Malformation Syndrome (C563051)

       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:3654
Name:Edinburgh Malformation Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002869|MESH:D005183|MESH:D006849|MESH:D011596|MESH:D019066|MESH:D025063
TreeNumbers:C10.228.140.602/C563051 |C10.228.140.631.450/C563051 |C10.597.606.881/C563051 |C16.131.260/C563051 |C16.320.180/C563051 |C23.550.210/C563051 |C23.550.291.812/C563051 |C23.888.338/C563051 |C23.888.592.604.882/C563051
Synonyms:
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C563051
MeSH: C563051
OMIM: 129850;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000271Abnormality of the face
3 HP:0005616Accelerated skeletal maturation
4 HP:0001522Death in infancy
5 HP:0001508Failure to thrive
6 HP:0000238Hydrocephalus
7 HP:0001249Intellectual disability
8 HP:0000952Jaundice
9 HP:0001270Motor delay
10 HP:0003265Neonatal hyperbilirubinemia
Disease Causing ClinVar Variants