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: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.100 None 0
CUI: C0563243
Disease: Poor coordination
Poor coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 8 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 44 0.100 None 0
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		disease Congenital Abnormality 16 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1441613
Disease: Immune diffusion
Immune diffusion 		phenotype Laboratory Procedure 3 1 0.100 None 0 1
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		phenotype Finding 42 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality 		phenotype Digestive System Diseases Finding 14 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 92 11 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0