loading...| Preferred Name |
ACROKERATOSIS VERRUCIFORMIS |
|
| Synonyms |
HOPF DISEASE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/101900 |
|
| altLabel |
HOPF DISEASE AKV |
|
| cui |
C0265971 |
|
| Gene Locus |
12q23-q24.1 |
|
| Gene Symbol |
ATP2B DAR ATP2A2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003000 http://purl.bioontology.org/ontology/OMIM/MTHU024425 http://purl.bioontology.org/ontology/OMIM/MTHU001049 http://purl.bioontology.org/ontology/OMIM/MTHU003001 http://purl.bioontology.org/ontology/OMIM/MTHU018736 http://purl.bioontology.org/ontology/OMIM/MTHU007784 http://purl.bioontology.org/ontology/OMIM/MTHU024427 http://purl.bioontology.org/ontology/OMIM/MTHU024426 http://purl.bioontology.org/ontology/OMIM/MTHU024429 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
101900 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ACROKERATOSIS VERRUCIFORMIS |
|
| Scope Statement |
Caused by mutation in the ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2 gene (ATP2A2, 108740) [MOLECULAR BASIS] Hyperkeratosis often present at birth but may appear later [MISCELLANEOUS] |
|
| tui |
T047 T019 |