01
Diseases
Parkinson Disease 23, Autosomal Recessive Early-Onset
parkinson disease 23, autosomal recessive early-onset
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 12
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Parkinson Disease 23, Autosomal Recessive Early-Onset
- Standard Disease Name
- parkinson disease 23, autosomal recessive early-onset
- MeSH Tree
- No data
- ICD-10
- Q04.0
Identifiers
- DO ID
- No data
- MeSH ID
- D061085
- OMIM ID
- MTHU004110|217990|MTHU031863|MTHU012138|MTHU000061|MTHU007063|MTHU022910|MTHU005338|MTHU001604|MTHU051057
- UMLS ID
- C0175754
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.|MSH2017_2016_08_12:Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.|HPO2016_07_04:Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. [HPO:curators]
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Candidate Ingredients
target disease -> ingredient target3 Ingredients
