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: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality 3 10 0.700 None 1.000 12 9 2011 2019
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 7 0.740 None 1.000 4 7 2015 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.030 None 1.000 3 2011 2012
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.030 None 1.000 3 2011 2014
CUI: C0796021
Disease: Lowry Wood syndrome
Lowry Wood syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.330 None 1.000 3 2018 2019
CUI: C4319565
Disease: Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism types I and III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1 0.300 None 1.000 2 2012 2013
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.120 None 1.000 2 2002 2018
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2011 2011
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 1 0.010 None 1.000 1 2016 2016
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.110 None 1.000 1 2016 2016
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.010 None 1.000 1 2017 2017
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.010 None 1.000 1 2002 2002
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 0.010 None 1.000 1 2011 2011
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 2018 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2019 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 71 9 0.010 None 1.000 1 2011 2011
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		phenotype Finding 4 1 0.100 None 0
CUI: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		phenotype Finding 3 1 0.100 None 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype Finding 53 1 0.100 None 0
CUI: C1851310
Disease: Aplasia/hypoplasia of the femur
Aplasia/hypoplasia of the femur 		phenotype Finding 3 2 0.100 None 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0
CUI: C1850658
Disease: Irregular femoral epiphysis
Irregular femoral epiphysis 		phenotype Finding 3 0.100 None 0
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger 		phenotype Finding 10 0.100 None 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		phenotype Finding 21 13 0.100 None 0 2
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0