hypomyelinating leukodystrophy 7 Disease Ontology Browser

Disease Ontology Browser

hypomyelinating leukodystrophy 7 (DOID:0060794)
Alliance: disease page
Synonyms: ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; dentoleukoencephalopathy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; TACH syndrome; tremor-ataxia-central hypomyelination syndrome
Alt IDs: OMIM:607694, ICD10CM:G11.1, ORDO:137639, ORDO:447893, ORDO:447896, ORDO:77295
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.

Disease References using Mouse Models (2)

Allelic Composition	Genetic Background	Reference	Phenotypes
Polr3atm1Iwil/Polr3atm1Iwil Olig2tm1.1(cre)Wdr/Olig2+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:311745	View
Polr3atm1Iwil/Polr3atm1Iwil Tg(CAG-cre/Esr1*)5Amc/0	Not Specified	J:364909	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Polr3atm1.1Bebr/Polr3atm1.1Bebr	involves: C57BL/6J	J:250577	View
Polr3aGt(LG04)Osb/Polr3atm1Bebr	involves: C57BL/6 * C57BL/6J * DBA/2	J:250577	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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