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: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle
phenotype Finding 11 4 0.100 None 0 1
CUI: C1859717
Disease: Depressed nasal tip
Depressed nasal tip
phenotype Finding 23 3 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis
disease Digestive System Diseases Disease or Syndrome 17 2 0.100 None 0 1
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.100 None 0
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.300 limited 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0241577
Disease: Elevated urinary catecholamines
Elevated urinary catecholamines
phenotype Finding 8 0.100 None 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 39 2 0.100 None 0 1
CUI: C1856659
Disease: Polysplenia
Polysplenia
disease Congenital Abnormality 15 0.100 None 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput
phenotype Finding 53 1 0.100 None 0
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
phenotype Finding 5 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 111 16 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly
phenotype Finding 4 0.100 None 0
CUI: C0027766
Disease: Nervous System Neoplasms
Nervous System Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 68 1 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype Finding 105 3 0.100 None 0
CUI: C2931189
Disease: Neural crest tumor
Neural crest tumor
disease Neoplasms; Endocrine System Diseases Disease or Syndrome 18 1 0.300 None 0
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
phenotype Finding 5 0.100 None 0