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: C4021601
Disease: Premature eruption of permanent teeth
Premature eruption of permanent teeth 		phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C4024855
Disease: Lack of subcutaneous fatty tissue
Lack of subcutaneous fatty tissue 		phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		disease Disease or Syndrome 1 5 0.600 strong 1.000 1 5 2017 2017
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow 		phenotype Finding 2 2 0.100 None 1.000 1 2 2017 2017
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		phenotype Behavior and Behavior Mechanisms Pathologic Function 2 3 0.100 None 1.000 1 1 2017 2017
CUI: C4025139
Disease: Fifth finger distal phalanx clinodactyly
Fifth finger distal phalanx clinodactyly 		disease Congenital Abnormality 2 1 0.100 None 1.000 1 1 2017 2017
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		phenotype Anatomical Abnormality 3 2 0.100 None 1.000 1 1 2017 2017
CUI: C1335411
Disease: Cyst of pineal gland
Cyst of pineal gland 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 3 0.100 None 0
CUI: C1844734
Disease: Hemihypotrophy of lower limb
Hemihypotrophy of lower limb 		phenotype Finding 3 0.100 None 0
CUI: C1861325
Disease: Progressive conductive hearing impairment
Progressive conductive hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 3 0.100 None 0
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 4 2 0.100 None 1.000 1 1 2017 2017
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		phenotype Finding 4 1 0.100 None 1.000 1 1 2017 2017
CUI: C4023249
Disease: Patent ductus arteriosus after birth at term
Patent ductus arteriosus after birth at term 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 1 0.100 None 0
CUI: C4021168
Disease: Slender toe
Slender toe 		phenotype Finding 6 2 0.100 None 1.000 1 1 2017 2017
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 6 3 0.100 None 1.000 1 1 2017 2017
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		disease Anatomical Abnormality 7 4 0.100 None 1.000 1 2 2017 2017
CUI: C1335729
Disease: Refractory Neoplasm
Refractory Neoplasm 		disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		phenotype Finding 9 3 0.100 None 0
CUI: C4024956
Disease: Grammar-specific speech disorder
Grammar-specific speech disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 1 0.100 None 1.000 1 1 2017 2017
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 11 7 0.100 None 1.000 1 1 2017 2017
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 13 20 0.100 None 1.000 1 8 2017 2017
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		phenotype Finding 15 0.100 None 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		phenotype Finding 17 1 0.100 None 1.000 1 1 2017 2017
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		disease Anatomical Abnormality 17 1 0.100 None 0