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: C0080233
Disease: Tooth Loss
Tooth Loss
phenotype Stomatognathic Diseases Acquired Abnormality 17 0.010 < 0.001 1 2006 2006
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 3 0.010 1.000 1 2010 2010
CUI: C0005937
Disease: Bone Cysts
Bone Cysts
phenotype Musculoskeletal Diseases; Neoplasms Anatomical Abnormality 16 3 0.100 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 123 4 0.100 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
phenotype Anatomical Abnormality 61 2 0.100 0
CUI: C0302501
Disease: Mandibular hyperplasia
Mandibular hyperplasia
phenotype Anatomical Abnormality 101 0.100 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus
phenotype Musculoskeletal Diseases Anatomical Abnormality 3 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype Anatomical Abnormality 159 1 0.100 0
CUI: C2675111
Disease: Abnormality of the eyelashes
Abnormality of the eyelashes
phenotype Anatomical Abnormality 25 0.100 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx
phenotype Anatomical Abnormality 11 0.100 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe
phenotype Anatomical Abnormality 4 0.100 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
phenotype Anatomical Abnormality 24 0.100 0
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype Anatomical Abnormality 396 0.100 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx
phenotype Anatomical Abnormality 11 0.100 0
Abnormality of the nasolacrimal system
phenotype Anatomical Abnormality 11 0.100 0
CUI: C4280808
Disease: Abnormally small eyeball
Abnormally small eyeball
phenotype Anatomical Abnormality 144 0.100 0
CUI: C4476523
Disease: Decreased projection of lower jaw
Decreased projection of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476524
Disease: Decreased projection of mandible
Decreased projection of mandible
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476525
Disease: Retrusion of lower jaw
Retrusion of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
Encephalocraniocutaneous lipomatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 4 2 0.710 1.000 5 2 2000 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 111 10 0.340 0.667 4 2004 2008
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality 413 15 0.140 1.000 4 2008 2016
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 14 0.040 0.750 4 2004 2007
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 3 0.710 1.000 4 3 1980 2006