loading...| Preferred Name |
Bardet-Biedl Syndrome |
|
| Synonyms |
|
|
| Definitions |
An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038266 |
|
| Database_Cross_Reference |
NCI:C118632 MTH:NOCODE RCD:PKy1. ICD10CM:Q87.89 MSH:D020788 DO:DOID:1935 MDR:10048680 JABL:48 MDR:10056715 CHV:0000048542 MTH:125 SNMI:D4-01205 SNOMEDCT_US:5619004 NCI_NICHD:C118632 DXP:NOCODE NDFRT:N0000004188 |
|
| Definition |
An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. |
|
| label |
Bardet-Biedl Syndrome |
|
| MCID |
MC00259236 |
|
| PMOID |
PMO:00038266 |
|
| prefixIRI |
pmo:PMO_00038266 |
|
| prefLabel |
Bardet-Biedl Syndrome |
|
| Synonym |
Biedl-Bardet syndrome BARDET-BIEDL SYNDROME Laurence Moon Bardet Biedl Syndrome Bardet-Biedl syndrome Bardet Biedl Syndrome Laurence-Moon (-Bardet)-Biedl syndrome Bardet-Biedl syndrome (BBS) Laurence-Moon-Bardet-Biedl syndrome Bardet-Biedl Syndrome [Disease/Finding] LMBB syndrome Bardet-Biedl syndrome (disorder) Syndrome, Bardet-Biedl Laurence-Moon-Bardet-Biedl Syndrome Syndrome, Laurence-Moon-Bardet-Biedl BBS bardet biedl syndrome LMBB - Laurence-Moon-Bardet-Biedl syndrome bardet-biedl syndrome |
|
| Tree Number |
T9.21.15.5.1.4 T9.8.4.4.3 T9.8.3.1.4.3 |
|
| subClassOf |