Disease #04364 (BBS3 (Bardet-Biedl syndrome, type 3 (BBS-3)), OMIM:600151)

Official abbreviation BBS3
Name Bardet-Biedl syndrome, type 3 (BBS-3)
OMIM ID 600151
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ARL6
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:22 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00436607 2694959 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F yes Mexico Hispanic - - - None BBS3 Obesity HP:0001513, Postaxial polydactyly HP:0100259, Intellectual disability HP:0001249, Hypogonadism HP:0000135, Acanthosis nigricans HP:0000956, Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510 ARL6 ARL6 1 1 Rocio Villafuerte-de la Cruz
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