Metadata | |
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ID | DOID:0112322 |
Name | pontocerebellar hypoplasia type 1 |
Definition | A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/, https://pubmed.ncbi.nlm.nih.gov/29656927/, https://pubmed.ncbi.nlm.nih.gov/21749694/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Norman disease [EXACT] PCH1 [EXACT] pontocerebellar hypoplasia with anterior horn cell disease [EXACT] pontocerebellar hypoplasia with infantile spinal muscular atrophy [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
disease has location some ventral horn of spinal cord |