loading...| Preferred Name |
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA |
| Synonyms |
ROUSSY-LEVY SYNDROME |
| ID |
http://purl.bioontology.org/ontology/OMIM/180800 |
| altLabel |
ROUSSY-LEVY SYNDROME |
| cui |
C0205713 |
| Gene Locus |
17p11.2 |
| Gene Symbol |
CMT1E CIDP PMP22 CMT1A DSS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015774 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU002851 http://purl.bioontology.org/ontology/OMIM/MTHU004414 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU000336 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU002832 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU015777 http://purl.bioontology.org/ontology/OMIM/MTHU015775 http://purl.bioontology.org/ontology/OMIM/MTHU015773 http://purl.bioontology.org/ontology/OMIM/MTHU006146 http://purl.bioontology.org/ontology/OMIM/MTHU036555 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000329 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
180800 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA |
| Scope Statement |
Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0001) [MOLECULAR BASIS] Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Onset in early childhood [MISCELLANEOUS] Upper limb involvement usually occurs later [MISCELLANEOUS] Allelic disorders with overlapping phenotypes include Charcot-Marie-Tooth disease type 1 (CMT1B, 118200 and CMT1A, 118220) and Dejerine-Sottas syndrome (DSS, 145900) [MISCELLANEOUS] Slowly progressive [MISCELLANEOUS] Caused by mutation in the myelin protein zero gene (MPZ, 159440.0021) [MOLECULAR BASIS] |
| tui |
T047 |