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: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 7 1 0.500 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 146 7 0.100 None 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
phenotype Skin and Connective Tissue Diseases Finding 114 7 0.100 None 0
CUI: C0020440
Disease: Hypercapnia
Hypercapnia
phenotype Pathological Conditions, Signs and Symptoms Finding 11 0.100 None 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
Abnormality of temperature regulation
phenotype Finding 19 3 0.100 None 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 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
Small for gestational age (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma
disease Neoplasms Neoplastic Process 57 0.100 None 0
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation
phenotype Finding 12 8 0.100 None 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 16 1 0.100 None 0