Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal cerebral morphology (HP:0002060)help
Parent Node:
expand
Leukoencephalopathy (HP:0002352)help
..Starting node
..expand
Diffuse leukoencephalopathy (HP:0006994)help
Term ID: 6994
Name: Diffuse leukoencephalopathy
Synonym:
Definition:
Comments:
Reference: HP:0006994
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal periventricular white matter morphology (HP:0002518) help
..expandDiffuse spongiform leukoencephalopathy (HP:0006943) 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:0006994HP:0006994Diffuse leukoencephalopathy0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0006994HP:0006994Diffuse leukoencephalopathy0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0006994HP:0006994Diffuse leukoencephalopathy0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0006994HP:0006994Diffuse leukoencephalopathy0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9


Genes (4) :LIG3 LMNB1 MPV17 RNU7-1

Diseases (4) :OMIM:619780 OMIM:169500 OMIM:256810 OMIM:619487
 

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