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: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple
disease Congenital Abnormality 33 1 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Congenital Abnormality 57 3 0.100 None 0
CUI: C0426818
Disease: Thin rib
Thin rib
phenotype Finding 42 1 0.100 None 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.100 None 0
CUI: C0426808
Disease: Long clavicle
Long clavicle
phenotype Finding 10 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger
phenotype Finding 39 3 0.100 None 0
CUI: C1844738
Disease: Axillary pterygium
Axillary pterygium
phenotype Eye Diseases Finding 7 0.100 None 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve
disease Anatomical Abnormality 50 2 0.100 None 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion
disease Anatomical Abnormality 67 2 0.100 None 0
CUI: C3805420
Disease: Popliteal pterygium
Popliteal pterygium
phenotype Eye Diseases Finding 6 0.100 None 0
CUI: C3810471
Disease: Intercrural pterygium
Intercrural pterygium
phenotype Eye Diseases Finding 2 0.100 None 0
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae
disease Congenital Abnormality 15 2 0.100 None 0
Morphological abnormality of the gastrointestinal tract
phenotype Anatomical Abnormality 2 0.100 None 0
Symphalangism affecting the phalanges of the hand
disease Anatomical Abnormality 13 0.100 None 0
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe
disease Anatomical Abnormality 9 1 0.100 None 0
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly
disease Congenital Abnormality 2 1 0.100 None 0
Aplasia/Hypoplasia of the abdominal wall musculature
phenotype Finding 32 0.100 None 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin
phenotype Finding 29 0.100 None 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress
phenotype Respiratory Tract Diseases Finding 64 34 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: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature
phenotype Finding 4 0.100 None 0
CUI: C1849575
Disease: Absence of labia majora
Absence of labia majora
phenotype Finding 2 0.100 None 0