Source: CLINVAR ×
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: 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 0 5 2017 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.110 None 1.000 19 1 1995 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.110 None 1.000 1 8 2017 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 19 1 1995 2017
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 6 7 0.100 None 1.000 1 1 2017 2017
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 37 39 0.100 None 1.000 1 1 2017 2017
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype Finding 6 6 0.100 None 1.000 1 1 2017 2017
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 1.000 1 1 2017 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 2 2017 2017
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype Finding 7 10 0.100 None 1.000 1 1 2017 2017
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype Finding 6 6 0.100 None 1.000 1 1 2017 2017
CUI: C1839798
Disease: Long nose
Long nose 		phenotype Finding 1 2 0.100 None 1.000 1 2 2017 2017
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 5 10 0.100 None 1.000 1 1 2017 2017
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow 		phenotype Finding 1 2 0.100 None 1.000 1 2 2017 2017
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 33 50 0.100 None 1.000 1 1 2017 2017
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype Finding 11 13 0.100 None 1.000 1 1 2017 2017
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype Congenital Abnormality 6 7 0.100 None 1.000 1 2 2017 2017
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype Finding 5 5 0.100 None 1.000 1 1 2017 2017
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 1.000 1 4 2017 2017
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 1.000 1 3 2017 2017
CUI: C4025139
Disease: Fifth finger distal phalanx clinodactyly
Fifth finger distal phalanx clinodactyly 		disease Congenital Abnormality 1 1 0.100 None 1.000 1 1 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: C4024956
Disease: Grammar-specific speech disorder
Grammar-specific speech disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2017 2017