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: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 19 1 0.330 0.667 3 2009 2012
CUI: C1855698
Disease: Aplasia cutis congenita of scalp
Aplasia cutis congenita of scalp
disease Congenital Abnormality 7 0.100 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype Finding 67 1 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 148 2 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 83 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1865992
Disease: Short hallux
Short hallux
phenotype Finding 18 0.100 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype Anatomical Abnormality 84 1 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 194 35 0.100 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.100 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 277 6 0.100 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.100 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease Congenital Abnormality 179 17 0.100 0
Abnormal form of the vertebral bodies
phenotype Finding 43 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
CUI: C1844749
Disease: Rib fusion
Rib fusion
disease Congenital Abnormality 21 0.100 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype Finding 68 0.100 0
CUI: C4020849
Disease: Bowed and upward slanting eyebrows
Bowed and upward slanting eyebrows
phenotype Finding 68 0.100 0
CUI: C4280596
Disease: Calvarial defect
Calvarial defect
phenotype Finding 18 0.100 0
CUI: C4280653
Disease: Turridolichocephaly
Turridolichocephaly
disease Congenital Abnormality 90 0.100 0