Human Phenotype Ontology 
Grandparent Node:
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Abnormal CNS myelination (HP:0011400)help
Parent Node:
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Leukodystrophy (HP:0002415)help
..Starting node
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Sudanophilic leukodystrophy (HP:0003269)help
Term ID: 3269
Name: Sudanophilic leukodystrophy
Synonym:
Definition:
Comments:
Reference: HP:0003269
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDysmyelinating leukodystrophy (HP:0006978) help
..expandMetachromatic leukodystrophy variant (HP:0006926) 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:0003269HP:0003269Sudanophilic leukodystrophy0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0003269HP:0003269Sudanophilic leukodystrophy0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0003269HP:0003269Sudanophilic leukodystrophy0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138


Genes (3) :AIMP1 PLP1 POLR3A

Diseases (3) :OMIM:260600 OMIM:312080 OMIM:264090
 

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