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About: hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
described by
id
  • DOID:0060794
database_cross_reference
  • ICD10CM:G11.1
  • OMIM:607694
  • ORDO:137639
  • ORDO:447893
  • ORDO:447896
  • ORDO:77295
has_exact_synonym
  • hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome (en)
  • ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy (en)
  • HLD7 (en)
  • TACH syndrome (en)
  • dentoleukoencephalopathy (en)
  • leukodystrophy with oligodontia (en)
  • tremor-ataxia-central hypomyelination syndrome (en)
  • leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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