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  • Abnormalities, Multiple

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  • Disorders

    • Smith-Magenis Syndrome

      The concept 'Smith-Magenis Syndrome' has a weight of 100%

    • Heart Defects, Congenital

      The concept 'Heart Defects, Congenital' has a weight of 91%

    • Chromosome Deletion

      The concept 'Chromosome Deletion' has a weight of 84%

    • Craniofacial Abnormalities

      The concept 'Craniofacial Abnormalities' has a weight of 72%

    • Eye Abnormalities

      The concept 'Eye Abnormalities' has a weight of 68%

    • Intellectual Disability

      The concept 'Intellectual Disability' has a weight of 65%

    • Hernia, Umbilical

      The concept 'Hernia, Umbilical' has a weight of 55%

    • Tooth Abnormalities

      The concept 'Tooth Abnormalities' has a weight of 54%

    • DiGeorge Syndrome

      The concept 'DiGeorge Syndrome' has a weight of 49%

    • Cleft Lip

      The concept 'Cleft Lip' has a weight of 43%

    • Microcephaly

      The concept 'Microcephaly' has a weight of 42%

    • Walker-Warburg Syndrome

      The concept 'Walker-Warburg Syndrome' has a weight of 41%

    • Bone Diseases, Developmental

      The concept 'Bone Diseases, Developmental' has a weight of 41%

    • Hearing Loss, Sensorineural

      The concept 'Hearing Loss, Sensorineural' has a weight of 40%

    • Developmental Disabilities

      The concept 'Developmental Disabilities' has a weight of 40%

    • Agenesis of Corpus Callosum

      The concept 'Agenesis of Corpus Callosum' has a weight of 38%

    • Hip Dislocation, Congenital

      The concept 'Hip Dislocation, Congenital' has a weight of 37%

    • Cryptorchidism

      The concept 'Cryptorchidism' has a weight of 34%

    • Hydrocephalus

      The concept 'Hydrocephalus' has a weight of 34%

    • Skin Abnormalities

      The concept 'Skin Abnormalities' has a weight of 33%

    • Ectromelia

      The concept 'Ectromelia' has a weight of 33%

    • Deafness

      The concept 'Deafness' has a weight of 32%

    • Trisomy

      The concept 'Trisomy' has a weight of 30%

    • Strabismus

      The concept 'Strabismus' has a weight of 30%

    • Cleft Palate

      The concept 'Cleft Palate' has a weight of 30%

    • Heart Septal Defects

      The concept 'Heart Septal Defects' has a weight of 29%

    • Chromosome Disorders

      The concept 'Chromosome Disorders' has a weight of 29%

    • Sinus Pericranii

      The concept 'Sinus Pericranii' has a weight of 28%

    • Encephalocele

      The concept 'Encephalocele' has a weight of 28%

  • Living Beings

    • Infant, Newborn

      The concept 'Infant, Newborn' has a weight of 59%

    • Mice, Mutant Strains

      The concept 'Mice, Mutant Strains' has a weight of 38%

  • Anatomy

    • Chromosomes, Human, Pair 17

      The concept 'Chromosomes, Human, Pair 17' has a weight of 58%

    • Facial Bones

      The concept 'Facial Bones' has a weight of 47%

    • Chromosomes, Human, Pair 14

      The concept 'Chromosomes, Human, Pair 14' has a weight of 39%

    • Corpus Callosum

      The concept 'Corpus Callosum' has a weight of 31%

    • Chromosomes, Human, X

      The concept 'Chromosomes, Human, X' has a weight of 28%

  • Concepts & Ideas

    • Pedigree

      The concept 'Pedigree' has a weight of 48%

    • Family Health

      The concept 'Family Health' has a weight of 44%

    • Consanguinity

      The concept 'Consanguinity' has a weight of 34%

  • Chemicals & Drugs

    • Mannose-Binding Protein-Associated Serine Proteases

      The concept 'Mannose-Binding Protein-Associated Serine Proteases' has a weight of 46%

    • Leukocyte L1 Antigen Complex

      The concept 'Leukocyte L1 Antigen Complex' has a weight of 35%

  • Procedures

    • Prenatal Diagnosis

      The concept 'Prenatal Diagnosis' has a weight of 45%

    • Chromosome Mapping

      The concept 'Chromosome Mapping' has a weight of 35%

    • In Situ Hybridization, Fluorescence

      The concept 'In Situ Hybridization, Fluorescence' has a weight of 30%

    • Karyotyping

      The concept 'Karyotyping' has a weight of 29%

  • Physiology

    • Phenotype

      The concept 'Phenotype' has a weight of 43%

    • Mutation

      The concept 'Mutation' has a weight of 29%

    • Synteny

      The concept 'Synteny' has a weight of 29%

  • Genes & Molecular Sequences

    • Genes, Recessive

      The concept 'Genes, Recessive' has a weight of 40%

  • Occupations

    • Genetic Counseling

      The concept 'Genetic Counseling' has a weight of 29%