Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34
Press Enter · cited answer in seconds
0 sources
Charcot-Marie-Tooth disease type 4K
Summary
Charcot-Marie-Tooth disease type 4K is a developmental defect during embryogenesis[1].
Key Facts
- Charcot-Marie-Tooth disease type 4K's instance of is recorded as developmental defect during embryogenesis[2].
- Charcot-Marie-Tooth disease type 4K's instance of is recorded as rare disease[3].
- Charcot-Marie-Tooth disease type 4K's instance of is recorded as class of disease[4].
- Charcot-Marie-Tooth disease type 4K's subclass of is recorded as Charcot-Marie-Tooth disease type 4[5].
- Charcot-Marie-Tooth disease type 4K's subclass of is recorded as mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies[6].
- Charcot-Marie-Tooth disease type 4K's subclass of is recorded as rare genetic developmental defect during embryogenesis[7].
- Charcot-Marie-Tooth disease type 4K's subclass of is recorded as autosomal recessive disease[8].
- Charcot-Marie-Tooth disease type 4K's OMIM ID is recorded as 616684[9].
- Charcot-Marie-Tooth disease type 4K's Disease Ontology ID is recorded as DOID:0110187[10].
- Charcot-Marie-Tooth disease type 4K's Orphanet ID is recorded as 391351[11].
- Charcot-Marie-Tooth disease type 4K's health specialty is recorded as neurology[12].
- Charcot-Marie-Tooth disease type 4K's genetic association is recorded as SURF1[13].
- Charcot-Marie-Tooth disease type 4K's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110187[14].
- Charcot-Marie-Tooth disease type 4K's exact match is recorded as http://identifiers.org/doid/DOID:0110187[15].
- Charcot-Marie-Tooth disease type 4K's UMLS CUI is recorded as C4225246[16].
- Charcot-Marie-Tooth disease type 4K's ICD-10-CM is recorded as G60.0[17].
- Charcot-Marie-Tooth disease type 4K's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- Charcot-Marie-Tooth disease type 4K's Mondo ID is recorded as MONDO_0014733[19].
- Charcot-Marie-Tooth disease type 4K's UniProt disease ID is recorded as DI-04591[20].