loading...| Preferred Name | HEREDITARY MOTOR AND SENSORY NEUROPATHY V | |
| Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT CMT WITH PYRAMIDAL FEATURES CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT HMSN V HMSN5 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/600361 |
|
| altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT CMT WITH PYRAMIDAL FEATURES CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT HMSN V HMSN5 |
|
| cui |
C0751602 C4721916 |
|
| Gene Locus |
4q34.3-q35.2 |
|
| Gene Symbol |
HMSN5 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006506 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU006510 http://purl.bioontology.org/ontology/OMIM/MTHU003761 http://purl.bioontology.org/ontology/OMIM/MTHU006512 http://purl.bioontology.org/ontology/OMIM/MTHU006504 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU006507 http://purl.bioontology.org/ontology/OMIM/MTHU038364 http://purl.bioontology.org/ontology/OMIM/MTHU006508 http://purl.bioontology.org/ontology/OMIM/MTHU006505 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU006509 http://purl.bioontology.org/ontology/OMIM/MTHU001140 |
|
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown. |
|
| notation |
600361 |
|
| OMIM Entry Type |
5 |
|
| OMIM MimType Value |
perc |
|
| prefLabel |
HEREDITARY MOTOR AND SENSORY NEUROPATHY V |
|
| Scope Statement |
See 607731 for an autosomal recessive form [MISCELLANEOUS] Slowly progressive [MISCELLANEOUS] Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Interfamilial and intrafamilial clinical heterogeneity [MISCELLANEOUS] Variable age of onset (range 4 to 47 years) [MISCELLANEOUS] |
|
| tui |
T047 |