loading...| Preferred Name |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V |
|
| Synonyms |
HSAN V |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/608654 |
|
| altLabel |
HSAN V INSENSITIVITY TO PAIN, CONGENITAL HSAN5 |
|
| cui |
C0020075 |
|
| Gene Locus |
1p13.1 |
|
| Gene Symbol |
HSAN5 NGF NGFB |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001882 http://purl.bioontology.org/ontology/OMIM/MTHU045563 http://purl.bioontology.org/ontology/OMIM/MTHU001881 http://purl.bioontology.org/ontology/OMIM/MTHU001883 http://purl.bioontology.org/ontology/OMIM/MTHU046144 http://purl.bioontology.org/ontology/OMIM/MTHU001884 http://purl.bioontology.org/ontology/OMIM/MTHU001891 http://purl.bioontology.org/ontology/OMIM/MTHU001890 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU001887 http://purl.bioontology.org/ontology/OMIM/MTHU001889 http://purl.bioontology.org/ontology/OMIM/MTHU001888 http://purl.bioontology.org/ontology/OMIM/MTHU001894 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
608654 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V |
|
| Scope Statement |
Accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the nerve growth factor-beta gene (NGFB, 162030.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |