Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q
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Charcot-Marie-Tooth disease type 4B3
Summary
Charcot-Marie-Tooth disease type 4B3 is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 4B3's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 4B3's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 4B3's subclass of is recorded as Charcot-Marie-Tooth disease type 4[4].
- Charcot-Marie-Tooth disease type 4B3's subclass of is recorded as autosomal recessive disease[5].
- Charcot-Marie-Tooth disease type 4B3's OMIM ID is recorded as 615284[6].
- Charcot-Marie-Tooth disease type 4B3's Disease Ontology ID is recorded as DOID:0110194[7].
- Charcot-Marie-Tooth disease type 4B3's Orphanet ID is recorded as 363981[8].
- Charcot-Marie-Tooth disease type 4B3's NCI Thesaurus ID is recorded as C190871[9].
- Charcot-Marie-Tooth disease type 4B3's health specialty is recorded as neurology[10].
- Charcot-Marie-Tooth disease type 4B3's genetic association is recorded as SBF1[11].
- Charcot-Marie-Tooth disease type 4B3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110194[12].
- Charcot-Marie-Tooth disease type 4B3's exact match is recorded as http://identifiers.org/doid/DOID:0110194[13].
- Charcot-Marie-Tooth disease type 4B3's UMLS CUI is recorded as C3695063[14].
- Charcot-Marie-Tooth disease type 4B3's ICD-10-CM is recorded as G60.0[15].
- Charcot-Marie-Tooth disease type 4B3's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- Charcot-Marie-Tooth disease type 4B3's Mondo ID is recorded as MONDO_0014117[17].
- Charcot-Marie-Tooth disease type 4B3's UniProt disease ID is recorded as DI-03784[18].