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Query OMIM entry list
142623
HSCR1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
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Chemical Phenomena
Biochemical Phenomena
Biochemical Processes
Alkylation
Methylation
DNA Methylation
Carbohydrate Metabolism
Glycosylation
Dimerization
DNA Methylation
Enzyme Activation
Nucleic Acid Hybridization
Phosphorylation
Protein Binding
RNA Processing, Post-Transcriptional
RNA Splicing
Alternative Splicing
Signal Transduction
MAP Kinase Signaling System
Transcription, Genetic
Up-Regulation
Molecular Structure
Amino Acid Sequence
Base Sequence
GC Rich Sequence
CpG Islands
Regulatory Sequences, Nucleic Acid
Enhancer Elements, Genetic
Promoter Regions, Genetic
Repetitive Sequences, Nucleic Acid
Tandem Repeat Sequences
DNA Repeat Expansion
DNA, Satellite
Microsatellite Repeats
Binding Sites
Conserved Sequence
Consensus Sequence
Molecular Conformation
Nucleic Acid Conformation
Protein Conformation
Protein Structure, Secondary
Amino Acid Motifs
Zinc Fingers
Protein Structure, Tertiary
Protein Interaction Domains and Motifs
src Homology Domains
RNA Stability
Sequence Homology
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Substrate Specificity
Chemical Processes
Biochemical Processes
Alkylation
Methylation
DNA Methylation
Carbohydrate Metabolism
Glycosylation
Dimerization
DNA Methylation
Enzyme Activation
Nucleic Acid Hybridization
Phosphorylation
Protein Binding
RNA Processing, Post-Transcriptional
RNA Splicing
Alternative Splicing
Signal Transduction
MAP Kinase Signaling System
Transcription, Genetic
Up-Regulation
Dimerization
Organic Chemistry Processes
Glycosylation
Phosphorylation
Organic Chemistry Phenomena
Organic Chemistry Processes
Glycosylation
Phosphorylation
Metabolic Phenomena
Metabolism
Alkylation
Methylation
DNA Methylation
Biological Transport
Carbohydrate Metabolism
Glycosylation
Dimerization
Enzyme Activation
Metabolic Networks and Pathways
MAP Kinase Signaling System
Phosphorylation
Protein Binding
RNA Processing, Post-Transcriptional
RNA Splicing
Alternative Splicing
Cell Physiological Phenomena
Cell Physiological Processes
Cell Cycle
Cell Division
Cell Death
Apoptosis
Cell Differentiation
Gametogenesis
Spermatogenesis
Cell Growth Processes
Cell Proliferation
Cell Division
Cell Movement
Cell Survival
Signal Transduction
MAP Kinase Signaling System
Genetic Phenomena
Consanguinity
Founder Effect
Gene Frequency
Genetic Processes
Biological Evolution
Evolution, Molecular
Breeding
Inbreeding
Consanguinity
Cell Division
DNA Methylation
Gene Expression
Transcription, Genetic
Gene Expression Regulation
Epistasis, Genetic
Gene Expression Regulation, Developmental
Gene Expression Regulation, Neoplastic
RNA Processing, Post-Transcriptional
RNA Splicing
Alternative Splicing
Transcriptional Activation
Up-Regulation
Mutagenesis
Amino Acid Substitution
DNA Repeat Expansion
Mutagenesis, Insertional
Sequence Deletion
Chromosome Deletion
Gene Deletion
Translocation, Genetic
Recombination, Genetic
Transfection
Genetic Structures
Base Sequence
GC Rich Sequence
CpG Islands
Regulatory Sequences, Nucleic Acid
Enhancer Elements, Genetic
Promoter Regions, Genetic
Repetitive Sequences, Nucleic Acid
Tandem Repeat Sequences
DNA Repeat Expansion
DNA, Satellite
Microsatellite Repeats
Chromosome Structures
Centromere
Telomere
Chromosomes
Chromosomes, Mammalian
Chromosomes, Human
Chromosomes, Human, 1-3
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 3
Chromosomes, Human, 4-5
Chromosomes, Human, Pair 5
Chromosomes, Human, 6-12 and X
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 10
Chromosomes, Human, 13-15
Chromosomes, Human, Pair 13
Chromosomes, Human, 16-18
Chromosomes, Human, Pair 16
Chromosomes, Human, 19-20
Chromosomes, Human, Pair 19
Chromosomes, Human, 21-22 and Y
Chromosomes, Human, Pair 22
Sex Chromosomes
X Chromosome
Genetic Code
Codon
Codon, Terminator
Codon, Nonsense
Genome
Genome Components
CpG Islands
DNA Sequence, Unstable
DNA Repeat Expansion
DNA, Intergenic
DNA, Satellite
5' Flanking Region
Introns
Untranslated Regions
3' Untranslated Regions
Genes
Alleles
Gene Components
Exons
5' Flanking Region
Introns
Regulatory Elements, Transcriptional
Enhancer Elements, Genetic
Promoter Regions, Genetic
Untranslated Regions
3' Untranslated Regions
Genes, Developmental
Genes, Homeobox
Genes, Dominant
Genes, Lethal
Genes, Neoplasm
Oncogenes
Proto-Oncogenes
Genes, Recessive
Genes, Reporter
Genetic Loci
Quantitative Trait Loci
Tandem Repeat Sequences
DNA Repeat Expansion
DNA, Satellite
Microsatellite Repeats
Genome, Human
Nucleic Acid Conformation
Genetic Variation
Genetic Heterogeneity
Mutation
Allelic Imbalance
Loss of Heterozygosity
Chromosome Deletion
Chromosome Aberrations
Aneuploidy
Monosomy
Chromosome Deletion
Mosaicism
Translocation, Genetic
Codon, Nonsense
DNA Repeat Expansion
Frameshift Mutation
Germ-Line Mutation
Mutagenesis, Insertional
Mutation, Missense
Point Mutation
Sequence Deletion
Chromosome Deletion
Gene Deletion
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Genotype
Gene Dosage
Genetic Predisposition to Disease
Haplotypes
Heterozygote
Homozygote
Inheritance Patterns
Genes, Dominant
Genes, Recessive
Multifactorial Inheritance
Penetrance
Genetic Linkage
Linkage Disequilibrium
Lod Score
Phenotype
Genetic Markers
Penetrance
Ploidies
Aneuploidy
Monosomy
Chromosome Deletion
Sequence Homology
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Physiological Phenomena
Nutritional Physiological Phenomena
Child Nutritional Physiological Phenomena
Infant Nutritional Physiological Phenomena
Weaning
Nutrition Processes
Weaning
Organ Specificity
Pharmacological Phenomena
Pharmacological Processes
Up-Regulation
Physiological Processes
Growth and Development
Aging
Growth
Cell Growth Processes
Cell Proliferation
Cell Division
Morphogenesis
Embryonic and Fetal Development
Fetal Development
Gestational Age
Movement
Locomotion
Cell Movement
Nutrition Processes
Weaning
Pharmacological Processes
Up-Regulation
Reproductive and Urinary Physiological Phenomena
Reproductive Physiological Phenomena
Gestational Age
Maternal Age
Paternal Age
Reproductive Physiological Processes
Reproduction
Gametogenesis
Spermatogenesis
Pregnancy
Maternal-Fetal Exchange
Sex Characteristics
Digestive System and Oral Physiological Phenomena
Digestive System Physiological Phenomena
Digestive System Processes
Gastrointestinal Motility
Integumentary System Physiological Phenomena
Hair Color
Ocular Physiological Phenomena
Eye Color
Biological Phenomena
Biological Processes
Biological Evolution
Evolution, Molecular
Pigmentation
Eye Color
Hair Color
Recovery of Function
Species Specificity
Mathematical Concepts
Probability
Odds Ratio
Risk
Sensitivity and Specificity
Statistical Distributions
Chi-Square Distribution
Database Center for Life Science
