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loading...| Preferred Name |
Charcot-Marie-Tooth disease type 4H |
| Synonyms |
CMT4H |
| Definitions |
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). |
| ID |
http://purl.obolibrary.org/obo/DOID_0110192 |
| database_cross_reference |
ORDO:99954 ICD10CM:G60.0 OMIM:609311 |
| definition |
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). |
| has exact synonym |
CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110192 |
| in_subset | |
| label |
Charcot-Marie-Tooth disease type 4H |
| notation |
DOID:0110192 |
| prefLabel |
Charcot-Marie-Tooth disease type 4H |
| subClassOf |
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