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: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 9 1 0.850 1.000 8 1 2000 2004
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 1 0.800 1.000 17 1 1993 2014
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.560 strong 1.000 8 1 1993 2014
Parietal Foramina With Cleidocranial Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.510 1.000 1 2004 2004
CUI: C1868599
Disease: PARIETAL FORAMINA 1
PARIETAL FORAMINA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 1 3 0.400 2 3 2000 2000
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.320 1.000 3 1995 2001
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases
group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 18 0.300 1 2006 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.200 1 2008 2008
CUI: C0018681
Disease: Headache
Headache
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 85 16 0.110 1 2006 2006
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 49 2 0.110 1.000 1 2001 2001
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 72 1 0.100 0
Widely patent fontanelles and sutures
phenotype Finding 14 0.100 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital Abnormality 273 7 0.100 0
CUI: C4020756
Disease: Unilateral coronal craniosynostosis
Unilateral coronal craniosynostosis
disease Congenital Abnormality 2 0.100 0
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle
disease Congenital Abnormality 22 0.100 0
CUI: C1855698
Disease: Aplasia cutis congenita of scalp
Aplasia cutis congenita of scalp
disease Congenital Abnormality 7 0.100 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly
phenotype Finding 7 1 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 33 0.100 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital Abnormality 215 0.100 0
Symmetrical, oval parietal bone defects
phenotype Finding 2 0.100 0
CUI: C4280666
Disease: Triangular head shape
Triangular head shape
disease Congenital Abnormality 19 0.100 0
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst
disease Neoplasms Neoplastic Process 16 1 0.100 0
CUI: C4072858
Disease: Solitary scalp defect
Solitary scalp defect
phenotype Congenital Abnormality 7 0.100 0