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Human Disease and Mouse Model Detail
Human Disease Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism; HLD7
OMIM ID: 607694
Human Phenotype Ontology associations
Synonyms 4h Syndrome; Ataxia, Delayed Dentition, and Hypomyelination; ADDH; Leukodystrophy, Hypomyelinating; Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism; Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     POLR3A* Polr3a   HomoloGene and HGNC
POLR3B* Polr3b   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory