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: C0151686
Disease: Growth retardation
Growth retardation
phenotype Pathologic Function 167 0.100 0
CUI: C0426414
Disease: Small nose
Small nose
phenotype Finding 175 0.100 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 66 0.100 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 168 1 0.100 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 367 9 0.100 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 120 2 0.100 0
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 211 3 0.100 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 221 5 0.100 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 106 0.100 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Finding 140 5 0.100 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital Abnormality 215 0.100 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C0239234
Disease: Low set ears
Low set ears
phenotype Congenital Abnormality 292 3 0.100 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 133 4 0.100 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 48 2 0.100 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 459 34 0.100 0
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip
phenotype Anatomical Abnormality 5 0.100 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 178 4 0.100 0
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 786 197 0.100 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C3552463
Disease: Very poor growth
Very poor growth
phenotype Sign or Symptom 173 10 0.100 0