Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal CNS myelination (HP:0011400)help
Parent Node:
expand
Leukodystrophy (HP:0002415)help
..Starting node
..expand
Dysmyelinating leukodystrophy (HP:0006978)help
Term ID: 6978
Name: Dysmyelinating leukodystrophy
Synonym:
Definition:
Comments:
Reference: HP:0006978
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMetachromatic leukodystrophy variant (HP:0006926) help
..expandSudanophilic leukodystrophy (HP:0003269) 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:0006978HP:0006978Dysmyelinating leukodystrophy0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0006978HP:0006978Dysmyelinating leukodystrophy0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0006978HP:0006978Dysmyelinating leukodystrophy0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61


Genes (3) :DARS2 FA2H SOX10

Diseases (3) :ORPHA:137898 OMIM:612319 OMIM:609136
 

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