leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism

Preferred Label : leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism;

MeSH note : mutation in POLR3A;

MeSH synonym : Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition; Leukodystrophy, Hypomyelinating, 7; Ataxia, Delayed Dentition, and Hypomyelination;

Details

Origin ID

C567313;

UMLS CUI

C2676243;

Currated CISMeF NLP mapping
- Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) [SNOMED CT concept]
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome [ORDO Disease]
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism [OMIM Phenotype]
- hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]
MeSH term(s) associated for indexing
- anodontia [MeSH Descriptor]
- ataxia [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- leukoencephalopathies [MeSH Descriptor]
Record concept(s)
- leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism [MeSH concept]
See also inter- (CISMeF)
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome [ORDO Disease]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
- Odontoleukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome [ORDO Disease]
- Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) [SNOMED CT concept]
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome [ORDO Disease]
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome [ORDO Disease]
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism [OMIM Phenotype]
- hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DO Concept]

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