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: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 19 0.100 None 0
CUI: C1838186
Disease: Squared iliac bones
Squared iliac bones 		phenotype Finding 6 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype Finding 60 27 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C1850293
Disease: Severe platyspondyly
Severe platyspondyly 		phenotype Finding 5 0.100 None 0
CUI: C0205204
Disease: Scab
Scab 		disease Acquired Abnormality 24 0.010 None 1.000 1 2019 2019
CUI: C0431414
Disease: Sacral dysgenesis
Sacral dysgenesis 		disease Congenital Abnormality 3 0.400 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2005 2005
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0
CUI: C1969092
Disease: NEPHRONOPHTHISIS 7
NEPHRONOPHTHISIS 7 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.100 None 0 2
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype Finding 112 18 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C0025995
Disease: Micromelia
Micromelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 104 1 0.100 None 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		phenotype Finding 13 0.100 None 0