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: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		disease Disease or Syndrome 2 2 0.600 strong 1.000 1 2 2017 2017
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		disease Disease or Syndrome 2 3 0.300 None 1.000 1 2017 2017
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		phenotype Finding 3 2 0.100 None 1.000 1 2 2017 2017
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 2 0.100 None 1.000 1 1 2017 2017
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		phenotype Finding 4 1 0.100 None 1.000 1 1 2017 2017
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		phenotype Finding 5 1 0.100 None 1.000 1 1 2017 2017
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 23 0.100 None 1.000 1 1 2017 2017
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 11 6 0.100 None 1.000 1 1 2017 2017
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		phenotype Congenital Abnormality 13 2 0.100 None 1.000 1 1 2017 2017
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.100 None 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		disease Anatomical Abnormality 16 1 0.100 None 1.000 1 1 2017 2017
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 1 0.100 None 1.000 1 1 2017 2017
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 20 3 0.100 None 1.000 1 1 2017 2017
CUI: C0028968
Disease: Olivopontocerebellar Atrophies
Olivopontocerebellar Atrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 1991 1991
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease Musculoskeletal Diseases Congenital Abnormality 40 6 0.100 None 1.000 1 2 2017 2017
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.100 None 1.000 1 1 2017 2017
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 52 7 0.100 None 1.000 1 1 2017 2017
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 1.000 1 1 2017 2017
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.300 strong 1.000 1 2017 2017
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 1.000 1 2 2017 2017
CUI: C1301937
Disease: Talipes
Talipes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 2 0.100 None 1.000 1 1 2017 2017
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 96 8 0.100 None 1.000 1 1 2017 2017
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 0.100 None 1.000 1 1 2017 2017
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 1.000 1 1 2017 2017
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 1.000 1 1 2017 2017