BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4021330
Disease: Curved toe phalanx
Curved toe phalanx
phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C1441613
Disease: Immune diffusion
Immune diffusion
phenotype Laboratory Procedure 3 1 0.100 None 0 1
CUI: C3808410
Disease: Gastrointestinal malrotation
Gastrointestinal malrotation
phenotype Finding 3 2 0.100 None 0 1
DIABETES MELLITUS, INSULIN-DEPENDENT, 4
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 1997 1997
CUI: C4022906
Disease: Delayed social development
Delayed social development
phenotype Finding 5 1 0.100 None 0 1
CUI: C4021818
Disease: Abnormality of the ovary
Abnormality of the ovary
disease Anatomical Abnormality 8 1 0.100 None 0
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality 10 292 0.010 None 1.000 1 2006 2006
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity
phenotype Finding 11 4 0.100 None 0 1
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
disease Disease or Syndrome 14 0.200 None 1.000 4 2004 2015
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality
phenotype Digestive System Diseases Finding 14 0.100 None 0
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina
disease Congenital Abnormality 16 0.100 None 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 65 0.940 None 1.000 38 53 1999 2017
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease Disease or Syndrome 23 317 0.010 None 1.000 1 2019 2019
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency
phenotype Finding 24 28 0.100 None 0 1
CUI: C0563243
Disease: Poor coordination
Poor coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 8 0.100 None 0
CUI: C0497406
Disease: Overweight
Overweight
phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0 1
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow
disease Finding 28 2 0.100 None 0
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.100 None 0 1
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy
disease Disease or Syndrome 29 41 0.100 None 0 2
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 30 9 0.100 None 0 1
CUI: C1866241
Disease: Broad foot
Broad foot
phenotype Musculoskeletal Diseases Finding 30 0.100 None 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 0.100 None 0
Night blindness, congenital stationary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.010 None 1.000 1 2019 2019
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 0.010 None 1.000 1 2015 2015
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
phenotype Finding 42 0.100 None 0