Medicine & Life Sciences
2-oxoglutarate 3-dioxygenase proline
19%
Alleles
15%
Aniridia cerebellar ataxia mental deficiency
18%
Ataxia
16%
Auriculo-condylar syndrome
18%
Autism Spectrum Disorder
26%
Autistic Disorder
37%
Cartilage
19%
Cerebellar Hypoplasia
29%
CHARGE Syndrome
17%
Child
20%
Chromosome 22q11.2 Microduplication Syndrome
16%
Cleidocranial Dysplasia
14%
Collagen Type I
25%
Coloboma
26%
Contracture
17%
DNA-Binding Proteins
19%
Epilepsy
38%
Ether
19%
Exome
32%
Fibroblasts
26%
Genes
49%
Genome
19%
Human Genetics
14%
Intellectual Disability
68%
Interferon Regulatory Factor-2
15%
Kabuki syndrome
14%
Medicine
20%
Megacystis microcolon intestinal hypoperistalsis syndrome
16%
Microcephaly
27%
Microcephaly with Simplified Gyral Pattern
18%
Muscle Hypotonia
39%
Mutation
51%
Names
16%
Neonatal progeroid syndrome
17%
Nervous System Diseases
18%
Neurodevelopmental Disorders
55%
Neurologic Manifestations
18%
Osteogenesis Imperfecta
50%
Parents
20%
Phenotype
53%
Pontocerebellar Hypoplasia
16%
Proteins
28%
Rare Diseases
25%
Seizures
39%
Timothy syndrome
16%
Type V Osteogenesis Imperfecta
17%
Undiagnosed Diseases
100%
Virulence
20%
Whole Genome Sequencing
18%