Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebral morphology (HP:0002060)help
Parent Node:
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Leukoencephalopathy (HP:0002352)help
..Starting node
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Diffuse spongiform leukoencephalopathy (HP:0006943)help
Term ID: 6943
Name: Diffuse spongiform leukoencephalopathy
Synonym:
Definition:
Comments:
Reference: HP:0006943
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal periventricular white matter morphology (HP:0002518) help
..expandDiffuse leukoencephalopathy (HP:0006994) help
..expandPosterior leukoencephalopathy (HP:0006859) help
..expandProgressive leukoencephalopathy (HP:0006980) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006943HP:0006943Diffuse spongiform leukoencephalopathy0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0006943HP:0006943Diffuse spongiform leukoencephalopathy0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0006943HP:0006943Diffuse spongiform leukoencephalopathy0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69


Genes (3) :HEPACAM MLC1 PRNP

Diseases (2) :OMIM:604004 ORPHA:282166
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.