Search Ontology:
Human Disease
pontocerebellar hypoplasia type 4
- Term ID
- DOID:0060273
- Synonyms
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- Definition
- A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/225753
- References
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- GARD:343
- MESH:C536716
- OMIM:225753
- ORDO:166063
- SNOMEDCT_US_2023_03_01:718608006
- UMLS_CUI:C1856974
- Ontology
- Human Disease ( DOID:0060273 )
- is a type of
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