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: C0155411
Disease: Exostosis of external ear canal
Exostosis of external ear canal
disease Musculoskeletal Diseases Disease or Syndrome 1 0.100 None 0
CUI: C1849577
Disease: Neck pterygia
Neck pterygia
phenotype Eye Diseases Finding 1 0.100 None 0
Anterior clefting of vertebral bodies
phenotype Finding 1 0.100 None 0
CUI: C1849580
Disease: Dysplastic patella
Dysplastic patella
phenotype Finding 1 0.100 None 0
CUI: C1849575
Disease: Absence of labia majora
Absence of labia majora
phenotype Finding 2 0.100 None 0
CUI: C3810471
Disease: Intercrural pterygium
Intercrural pterygium
phenotype Eye Diseases Finding 2 0.100 None 0
Morphological abnormality of the gastrointestinal tract
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly
disease Congenital Abnormality 2 1 0.100 None 0
CUI: C1867439
Disease: Pterygium, Antecubital
Pterygium, Antecubital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.100 None 0
CUI: C3151525
Disease: Hypoplastic heart
Hypoplastic heart
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 3 0.100 None 0
CUI: C1867448
Disease: Multiple pterygia
Multiple pterygia
phenotype Eye Diseases Finding 4 0.100 None 0
CUI: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature
phenotype Finding 4 0.100 None 0
CUI: C3805420
Disease: Popliteal pterygium
Popliteal pterygium
phenotype Eye Diseases Finding 6 0.100 None 0
CUI: C1844738
Disease: Axillary pterygium
Axillary pterygium
phenotype Eye Diseases Finding 7 0.100 None 0
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 13 0.710 None 1.000 4 5 2006 2019
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 9 11 0.780 None 1.000 11 11 2006 2019
CUI: C0152237
Disease: Talipes Calcaneovalgus
Talipes Calcaneovalgus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 9 0.100 None 0
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe
disease Anatomical Abnormality 9 1 0.100 None 0
CUI: C0426808
Disease: Long clavicle
Long clavicle
phenotype Finding 10 0.100 None 0
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 13 0.100 None 0
Symphalangism affecting the phalanges of the hand
disease Anatomical Abnormality 13 0.100 None 0
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae
disease Congenital Abnormality 15 2 0.100 None 0
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 16 6 0.100 None 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 3 0.100 None 0
Congenital Myasthenic Syndromes, Postsynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2006 2006