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: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.700 None 1.000 3 1 2005 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.510 None 1.000 3 2005 2016
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 1 0.440 None 1.000 7 1 1990 2017
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 26 31 0.300 None 1.000 1 2016 2016
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 53 38 0.300 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 None 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 None 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 0.100 None 0
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 58 19 0.100 None 0
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		phenotype Finding 9 3 0.100 None 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 15 2 0.100 None 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		phenotype Finding 6 0.100 None 0
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 14 1 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0426489
Disease: Gingival cleft
Gingival cleft 		phenotype Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 2 0.100 None 0
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia 		disease Congenital Abnormality 7 2 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: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 55 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0