loading...| Preferred Name |
Bardet-Biedl syndrome |
|
| Synonyms |
BBS |
|
| Definitions |
A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_110 |
|
| alternative_term |
BBS |
|
| definition |
A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 |
|
| has_age_of_onset |
Antenatal Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive Oligogenic |
|
| hasDbXref |
OMIM:615982 OMIM:615984 OMIM:615983 OMIM:615985 OMIM:615988 OMIM:615986 OMIM:615987 OMIM:615981 OMIM:615989 OMIM:605231 OMIM:617119 UMLS:C0752166 OMIM:209900 OMIM:615992 OMIM:615994 OMIM:615996 OMIM:615995 OMIM:615990 OMIM:615991 OMIM:615993 OMIM:600151 MeSH:D020788 ICD-10:Q87.8 ICD-11:5A61.0 MedDRA:10056715 OMIM:617406 |
|
| label |
Bardet-Biedl syndrome |
|
| notation |
ORPHA:110 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_399846 http://www.orpha.net/ORDO/Orphanet_557866 http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_104009 http://www.orpha.net/ORDO/Orphanet_156162 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_181387 |
|
| prefixIRI |
ORDO:Orphanet_110 |
|
| prefLabel |
Bardet-Biedl syndrome |
|
| present_in |
United States AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000 Tunisia AND has_point_prevalence_average_value : 0.64 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_399846 http://www.orpha.net/ORDO/Orphanet_557866 http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_104009 http://www.orpha.net/ORDO/Orphanet_156162 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_181387 |
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| subClassOf |