Jump to:
loading...| Preferred Name |
DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL |
| Synonyms |
FDAB |
| ID |
http://purl.bioontology.org/ontology/OMIM/606835 |
| altLabel |
FDAB |
| cui |
C1847406 |
| Gene Locus |
12q24.1 |
| Gene Symbol |
SSQTL1 SMAL BCYM3 HMSN2C TRPV4 SPSMA VROAC CMT2C |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003806 http://purl.bioontology.org/ontology/OMIM/MTHU003808 http://purl.bioontology.org/ontology/OMIM/MTHU003809 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
606835 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL |
| Scope Statement |
Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0030) [MOLECULAR BASIS] Onset in first decade of life [MISCELLANEOUS] Changes more marked in hands than feet [MISCELLANEOUS] |
| tui |
T047 |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C564656 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C564656 | Medical Subject Headings / 医学主题词表 | LOOM |