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:
expandBone Diseases, Developmental (D001848)
Parent Node:
expandCataract (D002386)
Parent Node:
expandFacies (D019066)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandKozlowski Rafinski Klicharska syndrome (C537509)

       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:6139
Name:Kozlowski Rafinski Klicharska syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D001848|MESH:D002386|MESH:D006130|MESH:D008607|MESH:D011596|MESH:D019066
TreeNumbers:C05.116.099/C537509 |C10.597.606.643/C537509 |C10.597.606.881/C537509 |C11.510.245/C537509 |C23.550.291.812/C537509 |C23.550.393/C537509 |C23.888.592.604.646/C537509 |C23.888.592.604.882/C537509 |F03.550.600/C537509
Synonyms:Metaphyseal and epiphyseal dysplasia with unusual facies and cataract
Slim Mappings:Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C537509
MeSH: C537509
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants