infantile cerebellar-retinal degeneration
neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration
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infantile cerebellar-retinal degeneration
Summary
infantile cerebellar-retinal degeneration is a rare disease[1]. It draws 1 Wikipedia views per month (rare_disease category, ranking #237 of 627).[2]
Key Facts
- infantile cerebellar-retinal degeneration's instance of is recorded as rare disease[3].
- infantile cerebellar-retinal degeneration's instance of is recorded as class of disease[4].
- infantile cerebellar-retinal degeneration's subclass of is recorded as neurodegeneration[5].
- infantile cerebellar-retinal degeneration's subclass of is recorded as eye degenerative disease[6].
- infantile cerebellar-retinal degeneration's subclass of is recorded as nervous system heredodegenerative disease[7].
- infantile cerebellar-retinal degeneration's subclass of is recorded as neurometabolic disease[8].
- infantile cerebellar-retinal degeneration's subclass of is recorded as hereditary retinal dystrophy[9].
- infantile cerebellar-retinal degeneration's subclass of is recorded as tricarboxylic acid cycle disorder[10].
- infantile cerebellar-retinal degeneration's subclass of is recorded as autosomal recessive disease[11].
- infantile cerebellar-retinal degeneration's OMIM ID is recorded as 614559[12].
- infantile cerebellar-retinal degeneration's KEGG ID is recorded as H02113[13].
- infantile cerebellar-retinal degeneration's Disease Ontology ID is recorded as DOID:0050883[14].
- infantile cerebellar-retinal degeneration's symptoms and signs is recorded as retinal degeneration[15].
- infantile cerebellar-retinal degeneration's symptoms and signs is recorded as neonatal hypotonia[16].
- infantile cerebellar-retinal degeneration's Orphanet ID is recorded as 313850[17].
- infantile cerebellar-retinal degeneration's genetic association is recorded as ACO2[18].
- infantile cerebellar-retinal degeneration's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050883[19].
- infantile cerebellar-retinal degeneration's exact match is recorded as http://identifiers.org/doid/DOID:0050883[20].
- infantile cerebellar-retinal degeneration's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_313850[21].
- infantile cerebellar-retinal degeneration's UMLS CUI is recorded as C3281192[22].
- infantile cerebellar-retinal degeneration's ICD-10-CM is recorded as E88.8[23].
- infantile cerebellar-retinal degeneration's GARD rare disease ID is recorded as 13264[24].
- infantile cerebellar-retinal degeneration's on focus list of Wikimedia project is recorded as WikiProject Medicine[25].
- infantile cerebellar-retinal degeneration's Mondo ID is recorded as MONDO_0013802[26].
- infantile cerebellar-retinal degeneration's UniProt disease ID is recorded as DI-03409[27].
Why It Matters
infantile cerebellar-retinal degeneration draws 1 Wikipedia views per month (rare_disease category, ranking #237 of 627).[2]