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.
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 18 0.800 None 0.938 16 18 1997 2019
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.410 strong 1.000 2 1997 2013
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.150 None 1.000 5 2012 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.150 None 1.000 5 2012 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.130 None 1.000 3 2013 2016
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 104 7 0.110 None 1.000 1 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2 2019 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 15 2 2006 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 15 2 2006 2017
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0 1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress
phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 0 1
CUI: C1844573
Disease: Large earlobe
Large earlobe
phenotype Finding 18 2 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0 1
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
phenotype Finding 42 5 0.100 None 0 1
CUI: C1837731
Disease: Overfolded helix
Overfolded helix
phenotype Finding 46 7 0.100 None 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.100 None 0 1
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 0 1
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 3 0.100 None 0 1
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 113 3 0.100 None 0 1
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0