HFM, Hemifacial microsomia, 170474

N. diseases: 22; N. variants: 0
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: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 5 0.100 None 1.000 12 2001 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.040 None 1.000 4 2001 2019
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.030 None 1.000 3 2001 2019
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
phenotype Anatomical Abnormality 31 24 0.020 None 1.000 2 2010 2014
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.020 None 1.000 2 2010 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 1993 1993
CUI: C3665865
Disease: Craniofacial deformity
Craniofacial deformity
disease Congenital Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.010 None 1.000 1 2018 2018
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.010 None 1.000 1 2001 2001
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.010 None 1.000 1 2018 2018
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.010 None 1.000 1 2018 2018
CUI: C0456065
Disease: Infant, Extremely Low Birth Weight
Infant, Extremely Low Birth Weight
phenotype Disease or Syndrome 15 1 0.010 None < 0.001 1 2019 2019
Acral Lentiginous Malignant Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 16 2 0.010 None < 0.001 1 2012 2012
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2017 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2017 2017
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 32 6 0.010 None 1.000 1 2013 2013
CUI: C0259785
Disease: Malignant Meningioma
Malignant Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 49 0.010 None 1.000 1 1993 1993
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.010 None 1.000 1 2017 2017
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2012 2012
CUI: C0038363
Disease: Aphthous Stomatitis
Aphthous Stomatitis
disease Stomatognathic Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2019 2019
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.010 None 1.000 1 2010 2010