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: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Finding 140 5 0.100 0
CUI: C0042109
Disease: Urticaria
Urticaria
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 113 6 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
phenotype Finding 149 0.100 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Finding 72 0.100 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis
disease Cardiovascular Diseases Disease or Syndrome 45 2 0.100 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Disease or Syndrome 153 2 0.100 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 57 0.100 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 95 2 0.100 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 403 20 0.100 0
CUI: C0042798
Disease: Low Vision
Low Vision
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 260 12 0.100 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.100 0
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm
disease Neoplasms Neoplastic Process 150 10 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
phenotype Anatomical Abnormality 83 1 0.100 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
disease Disease or Syndrome 52 1 0.100 0
CUI: C1138421
Disease: Spider Veins
Spider Veins
phenotype Cardiovascular Diseases Finding 22 0.100 0
Abnormality of amino acid metabolism
phenotype Finding 7 0.100 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.100 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 277 6 0.100 0
Congenital Nonbullous Ichthyosiform Erythroderma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 2 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 48 0.100 0
CUI: C0030354
Disease: Papilloma
Papilloma
disease Neoplasms Neoplastic Process 203 5 0.100 0
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation
phenotype Finding 65 13 0.100 0