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: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 182 25 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.300 None 0
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: C0311249
Disease: Cryptophthalmos
Cryptophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 1 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip
phenotype Finding 10 0.100 None 0
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue
phenotype Finding 6 1 0.100 None 0
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.300 None 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.100 None 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct
phenotype Finding 12 2 0.100 None 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid
phenotype Disease or Syndrome 6 0.100 None 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 0.300 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 34 5 0.100 None 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges
phenotype Finding 41 10 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 5 0.400 None 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
phenotype Finding 27 0.100 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.100 None 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.300 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: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.300 None 0