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: 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: C1859458
Disease: Cleft vertebral arch
Cleft vertebral arch 		disease Congenital Abnormality 1 0.100 None 0
CUI: C1859462
Disease: Absent knee epiphyses
Absent knee epiphyses 		phenotype Finding 1 0.100 None 0
CUI: C4024619
Disease: Broad femoral head
Broad femoral head 		phenotype Finding 1 0.100 None 0
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: 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: 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: C1850658
Disease: Irregular femoral epiphysis
Irregular femoral epiphysis 		phenotype Finding 3 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: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		phenotype Finding 3 1 0.100 None 0
CUI: C1866675
Disease: Biconvex vertebral bodies
Biconvex vertebral bodies 		phenotype Finding 3 0.100 None 0
CUI: C4023450
Disease: Prominent eyelashes
Prominent eyelashes 		phenotype Finding 3 0.100 None 0
CUI: C4024162
Disease: Abnormality of the tragus
Abnormality of the tragus 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0271321
Disease: Madarosis of eyelid
Madarosis of eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses 		phenotype Finding 4 1 0.100 None 0
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		phenotype Finding 4 1 0.100 None 0
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4021738
Disease: Abnormality of the pubic bone
Abnormality of the pubic bone 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4023124
Disease: Short digit
Short digit 		disease Finding 4 0.100 None 0
CUI: C4023824
Disease: Bifid femur
Bifid femur 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4316878
Disease: Loss of eyelashes
Loss of eyelashes 		phenotype Finding 4 0.100 None 0
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		disease Acquired Abnormality 5 1 0.100 None 0
CUI: C4024618
Disease: Large iliac wings
Large iliac wings 		phenotype Finding 6 0.100 None 0
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color 		disease Pathological Conditions, Signs and Symptoms Finding 8 0.100 None 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae 		disease Anatomical Abnormality 8 0.100 None 0