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.
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
disease Disease or Syndrome 1 7 0.600 strong 1.000 3 7 2014 2019
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures
phenotype Finding 2 2 0.100 None 0 1
CUI: C0085639
Disease: Falls
Falls
phenotype Finding 3 3 0.100 None 0 1
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding)
phenotype Finding 3 3 0.100 None 0 1
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis
disease Congenital Abnormality 3 3 0.100 None 0 1
CUI: C4023422
Disease: Long palm
Long palm
phenotype Finding 5 2 0.100 None 0 1
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
phenotype Finding 7 5 0.100 None 0 1
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
disease Nervous System Diseases Disease or Syndrome 8 2 0.100 None 0 1
CUI: C0848255
Disease: female puberty
female puberty
phenotype Sign or Symptom 9 0.010 None 1.000 1 2019 2019
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices
phenotype Finding 10 7 0.100 None 0 1
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery
phenotype Pathologic Function 10 10 0.100 None 0 1
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements
phenotype Finding 11 1 0.100 None 0 1
CUI: C1305740
Disease: Overbite
Overbite
disease Stomatognathic Diseases Anatomical Abnormality 13 5 0.100 None 0 1
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 3 0.100 None 0 1
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy
phenotype Nervous System Diseases Finding 14 5 0.100 None 0 1
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive
phenotype Finding 15 6 0.100 None 0 1
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist
disease Acquired Abnormality 15 4 0.100 None 0 1
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0 1
CUI: C0041105
Disease: Trismus
Trismus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.100 None 0 1
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration
phenotype Finding 18 8 0.100 None 0 1
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum
disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
phenotype Finding 21 2 0.100 None 0 1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
phenotype Finding 22 27 0.100 None 0 1
CUI: C0563243
Disease: Poor coordination
Poor coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 8 0.100 None 0 1
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay
phenotype Finding 27 21 0.100 None 0 1