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.
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 4 3 0.600 strong 1.000 2 3 2008 2010
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 14 0.440 limited 1.000 4 1 2008 2019
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
disease Musculoskeletal Diseases Disease or Syndrome 7 16 0.310 None 1.000 1 2015 2015
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
disease Musculoskeletal Diseases Disease or Syndrome 6 3 0.300 None 0
CUI: C4017128
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4
SPONDYLOCOSTAL DYSOSTOSIS 4
phenotype Finding 1 0.300 limited 0
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
Restrictive deficit on pulmonary function testing
phenotype Respiratory Tract Diseases Disease or Syndrome 16 6 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
CUI: C1844753
Disease: Block vertebrae
Block vertebrae
phenotype Finding 4 0.100 None 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
phenotype Finding 19 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 11 0.100 None 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 14 0.100 None 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput
phenotype Finding 53 1 0.100 None 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.100 None 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
disease Disease or Syndrome 5 13 0.100 None 0 4
Abnormality of female internal genitalia
disease Anatomical Abnormality 31 0.100 None 0
Abnormality of the intervertebral disk
disease Anatomical Abnormality 30 0.100 None 0
Abnormality of immune system physiology
phenotype Pathologic Function 42 1 0.100 None 0
Unilateral vertebral artery hypoplasia
phenotype Finding 1 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0