Phenotypes for disease #00089 (BBS1 (Bardet-Biedl syndrome, type 1 (BBS-1)), OMIM:209900)

11 entries on 1 page. Showing entries 1 - 11.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000002986 - Unknown - - - - - orofaciodigital syndrome, type VI (OFD-6) - Tania Attie-Bitach 00004269
0000002989 - Unknown - - - - - - - Tania Attie-Bitach 00004272
0000002990 - Unknown - - - - - - - Tania Attie-Bitach 00004273
0000002991 - Unknown - - - - - - - Tania Attie-Bitach 00004274
0000002992 - Unknown - - - - - - - Tania Attie-Bitach 00004275
0000002995 - Unknown - - - - - - - Tania Attie-Bitach 00004278
0000002996 - Unknown - - - - - - - Tania Attie-Bitach 00004279
0000207257 - Familial, autosomal recessive - - - - - severe obesity, polydactylyl, amenorrhea - Jinu Han 00269434
0000245689 Nonsyndromic Retinitis Pigmentosa Familial, autosomal recessive 13y Bardet-Biedl Syndrome - - - - - Lance P Doucette 00327395
0000245690 Nonsyndromic Retinitis Pigmentosa Familial, autosomal recessive 12y Bardet-Biedl Syndrome - - - Fundus/History: Mild pigment mottling in macular Ocular Coherence Tomography: Parafoveal loss of the ellipsoid zone Electroretinogram: Rod-cone dystrophy; cone flicker reduced ; 10 Hz dim flicker not recordable - Lance P Doucette 00327398
0000257474 - Familial, autosomal recessive - - - - - - - Zeinab Fadaie 00362060
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