Preferred Name |
Autosomal dominant intermediate Charcot-Marie-Tooth disease |
|
Synonyms |
CMTDI |
|
ID |
http://www.orpha.net/ORDO/Orphanet_90114 |
|
alternative_term |
CMTDI |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114 |
|
has_age_of_onset |
Adolescent Adult Childhood |
|
has_inheritance |
Autosomal dominant |
|
hasDbXref |
ICD-11:8C20.2 UMLS:C5680178 |
|
label |
Autosomal dominant intermediate Charcot-Marie-Tooth disease |
|
notation |
ORPHA:90114 Clinical group |
|
prefixIRI |
ORDO:Orphanet_90114 |
|
prefLabel |
Autosomal dominant intermediate Charcot-Marie-Tooth disease |
|
present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.orpha.net/ORDO/Orphanet_90114 | EFO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0019548 | EFO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0019548 | MONDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0019548 | DOVES | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0019548 | KTAO | LOOM | |
http://www.limics.org/hrdo/rdfns#pat_id_11977 | HRDO | LOOM |