MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
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: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 21 0.910 None 1.000 20 18 2000 2017
CUI: C2713583
Disease: Congenital Tracheobronchomegaly
Congenital Tracheobronchomegaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1856006
Disease: Transverse vaginal septum
Transverse vaginal septum 		phenotype Finding 2 0.100 None 0
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		disease Finding 2 5 0.100 None 0 3
CUI: C1863688
Disease: Xanthinuria, Type II
Xanthinuria, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 8 0.010 None 1.000 1 2001 2001
CUI: C2675305
Disease: BARDET-BIEDL SYNDROME 1, MODIFIER OF
BARDET-BIEDL SYNDROME 1, MODIFIER OF 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0266215
Disease: Anorectal atresia
Anorectal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.010 None < 0.001 1 2013 2013
CUI: C0268118
Disease: Xanthinuria, Type I
Xanthinuria, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2001 2001
CUI: C0042582
Disease: Vesicovaginal Fistula
Vesicovaginal Fistula 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.100 None 0
CUI: C0452168
Disease: Hypospadias, balanic
Hypospadias, balanic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 5 0.100 None 0
CUI: C4021606
Disease: Mesoaxial hand polydactyly
Mesoaxial hand polydactyly 		disease Anatomical Abnormality 6 2 0.100 None 0
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 2 0.130 None 1.000 3 2000 2004
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		disease Eye Diseases Disease or Syndrome 9 6 0.100 None 1.000 1 1 2019 2019
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 10 6 0.790 None 1.000 12 6 2000 2017
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.010 None 1.000 1 2004 2004
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2007 2007
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 179 0.010 None 1.000 1 2010 2010
CUI: C0863094
Disease: Recurrent respiratory tract infections
Recurrent respiratory tract infections 		disease Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease Disease or Syndrome 14 0.200 None 1.000 1 2005 2005
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		disease Congenital Abnormality 16 0.100 None 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 17 0.100 None 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C0574002
Disease: Edema of foot (finding)
Edema of foot (finding) 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 19 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 0.400 strong 1.000 2 3 2000 2017
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 20 0.100 None 0