loading...| Preferred Name |
OFD1 GENE |
| Synonyms |
OROFACIODIGITAL SYNDROME I |
| ID |
http://purl.bioontology.org/ontology/OMIM/300170 |
| altLabel |
OROFACIODIGITAL SYNDROME I RETINITIS PIGMENTOSA 23 (1 family) CHROMOSOME X OPEN READING FRAME 5 OFD1 CXORF5 JOUBERT SYNDROME 10 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (1 family) |
| cui |
C1413833 C1510460 C2749019 C4016460 C4225598 |
| Gene Locus |
Xp22.3-p22.2 |
| Gene Symbol |
JBTS10 SGBS2 RP23 OFD1 CXorf5 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/300170.0009 http://purl.bioontology.org/ontology/OMIM/300170.0010 http://purl.bioontology.org/ontology/OMIM/300170.0011 http://purl.bioontology.org/ontology/OMIM/300170.0004 http://purl.bioontology.org/ontology/OMIM/300170.0006 http://purl.bioontology.org/ontology/OMIM/300170.0005 http://purl.bioontology.org/ontology/OMIM/300170.0001 http://purl.bioontology.org/ontology/OMIM/300170.0002 http://purl.bioontology.org/ontology/OMIM/300170.0003 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
300170 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
OFD1 GENE |
| tui |
T028 T033 T047 |