1
1q21.1 Microdeletion Syndrome (Rare Diseases / Chromosome Disorders)
1q44 Microdeletion Syndrome (Rare Diseases / Miscellaneous)
1q Duplications (Rare Diseases / Chromosome Disorders)
11-beta-hydroxylase Deficiency (Rare Diseases / Endocrine Diseases)
11-beta-hydroxylase Deficiency (Rare Diseases / Kidney & Urinary Diseases)
11-beta-hydroxylase Deficiency (Rare Diseases / Female Reproductive Diseases)
11-deoxycortisol (Laboratory Medicine / Endocrinology)
12q14 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases)
12q14 Microdeletion Syndrome (Rare Diseases / Musculoskeletal Diseases)
15q11.2 Microdeletion (Rare Diseases / Miscellaneous)
15q13.3 Microdeletion Syndrome (Rare Diseases / Chromosome Disorders)
15q13.3 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases)
15q24 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases)
16p11.2 Deletion Syndrome (Rare Diseases / Chromosome Disorders)
16p13.11 Microduplication Syndrome (Rare Diseases / Miscellaneous)
16q24.3 Microdeletion Syndrome (Rare Diseases / Miscellaneous)
17-alpha-hydroxylase Deficiency (Rare Diseases / Endocrine Diseases)
17-alpha-hydroxylase Deficiency (Rare Diseases / Metabolic Disorders)
17-alpha-hydroxylase Deficiency (Rare Diseases / Female Reproductive Diseases)
17-alpha-hydroxylase Deficiency (Rare Diseases / Male Reproductive Diseases)
17-alpha-hydroxylase Deficiency (Rare Diseases / Kidney & Urinary Diseases)
17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Male Reproductive Diseases)
17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Metabolic Disorders)
17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Endocrine Diseases)
17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Kidney & Urinary Diseases)
17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Female Reproductive Diseases)
17-hydroxyprogesterone (Laboratory Medicine / Endocrinology)
17-ketosteroids (Laboratory Medicine / Endocrinology)
17q12 Deletion Syndrome (Rare Diseases / Miscellaneous)
17q12 Duplication (Rare Diseases / Miscellaneous)
17q23.1q23.2 Microdeletion Syndrome (Rare Diseases / Chromosome Disorders)
18 Hydroxylase Deficiency (Rare Diseases / Endocrine Diseases)
18 Hydroxylase Deficiency (Rare Diseases / Metabolic Disorders)
19p13.12 Microdeletion Syndrome (Rare Diseases / Miscellaneous)
2
2,4-dienoyl-CoA Reductase Deficiency (Rare Diseases / Newborn Screening)
2-hydroxyglutaric Aciduria (Rare Diseases / Metabolic Disorders)
2-methyl-3-hydroxybutyric Aciduria (Rare Diseases / Metabolic Disorders)
2-methyl-3-hydroxybutyric Aciduria (Rare Diseases / Newborn Screening)
2-methyl-3-hydroxybutyric Aciduria (Rare Diseases / Nervous System Diseases)
2-methylbutyryl-CoA Dehydrogenase Deficiency (Rare Diseases / Metabolic Disorders)
2-methylbutyryl-CoA Dehydrogenase Deficiency (Rare Diseases / Newborn Screening)
2-methylbutyryl-CoA Dehydrogenase Deficiency (Rare Diseases / Nervous System Diseases)
2p15p16.1 Microdeletion Syndrome (Rare Diseases / Miscellaneous)
2q23.1 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases)
2q23.1 Microdeletion Syndrome (Rare Diseases / Chromosome Disorders)
2q37 Deletion Syndrome (Rare Diseases / Nervous System Diseases)
2q37 Deletion Syndrome (Rare Diseases / Musculoskeletal Diseases)
2q37 Deletion Syndrome (Rare Diseases / Chromosome Disorders)
20p12.3 Microdeletion Syndrome (Rare Diseases / Miscellaneous)
21-hydroxylase Deficiency (Rare Diseases / Newborn Screening)
22q11.2 Deletion Syndrome (Rare Diseases / Kidney & Urinary Diseases)
22q11.2 Deletion Syndrome (Rare Diseases / Immune System Diseases)
22q11.2 Deletion Syndrome (Rare Diseases / Chromosome Disorders)
22q11.2 Deletion Syndrome (Rare Diseases / Heart Diseases)
22q11.2 Deletion Syndrome (Rare Diseases / Mouth Diseases)
22q11.2 Deletion Syndrome (Rare Diseases / Endocrine Diseases)
22q11.2 Deletion Syndrome (Rare Diseases / Ear, Nose, & Throat Diseases)
22q11.2 Deletion Syndrome (Rare Diseases / Digestive Diseases)
22q11.2 Deletion Syndrome (Rare Diseases / Nervous System Diseases)
22q11.2 Duplication Syndrome (Rare Diseases / Chromosome Disorders)
22q13.3 Deletion Syndrome (Rare Diseases / Nervous System Diseases)
3
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency (Rare Diseases / Metabolic Disorders)
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency (Rare Diseases / Newborn Screening)
3 Methylglutaconic Aciduria Type V (Rare Diseases / Newborn Screening)
3-alpha Hydroxyacyl-CoA Dehydrogenase Deficiency (Rare Diseases / Newborn Screening)
3-alpha Hydroxyacyl-CoA Dehydrogenase Deficiency (Rare Diseases / Nervous System Diseases)
3-alpha Hydroxyacyl-CoA Dehydrogenase Deficiency (Rare Diseases / Endocrine Diseases)
3-alpha Hydroxyacyl-CoA Dehydrogenase Deficiency (Rare Diseases / Metabolic Disorders)
3-beta-hydroxysteroid Dehydrogenase Deficiency (Rare Diseases / Endocrine Diseases)
3-beta-hydroxysteroid Dehydrogenase Deficiency (Rare Diseases / Female Reproductive Diseases)
3-beta-hydroxysteroid Dehydrogenase Deficiency (Rare Diseases / Kidney & Urinary Diseases)
3-hydroxyisobutyric Aciduria (Rare Diseases / Metabolic Disorders)
3-methylcrotonyl-CoA Carboxylase Deficiency (Rare Diseases / Newborn Screening)
3-methylcrotonyl-CoA Carboxylase Deficiency (Rare Diseases / Metabolic Disorders)
3-methylglutaconyl-CoA Hydratase Deficiency (Rare Diseases / Metabolic Disorders)
3-methylglutaconyl-CoA Hydratase Deficiency (Rare Diseases / Newborn Screening)
3-quinuclidinyl Benzilate Poisoning (Neurology / Neurotoxicology)
3MC Syndrome (Rare Diseases / Nervous System Diseases)
3M Syndrome (Rare Diseases / Musculoskeletal Diseases)
3q29 Microdeletion Syndrome (Rare Diseases / Miscellaneous)
4
46,XX Testicular Disorder of Sex Development (Rare Diseases / Kidney & Urinary Diseases)
46,XX Testicular Disorder of Sex Development (Rare Diseases / Male Reproductive Diseases)
46,XX Testicular Disorder of Sex Development (Rare Diseases / Endocrine Diseases)
47 XXX Syndrome (Rare Diseases / Endocrine Diseases)
47 Xxx Syndrome (Rare Diseases / Chromosome Disorders)
47 Xxx Syndrome (Rare Diseases / Female Reproductive Diseases)
47 XYY Syndrome (Rare Diseases / Chromosome Disorders)
48,XXXY Syndrome (Rare Diseases / Endocrine Diseases)
48,XXXY Syndrome (Rare Diseases / Kidney & Urinary Diseases)
48,XXXY Syndrome (Rare Diseases / Nervous System Diseases)
48,XYYY (Rare Diseases / Kidney & Urinary Diseases)
48,XYYY (Rare Diseases / Male Reproductive Diseases)
48,XYYY (Rare Diseases / Nervous System Diseases)
49 Xxxxx Syndrome (Rare Diseases / Chromosome Disorders)
49,XXXXY Syndrome (Rare Diseases / Endocrine Diseases)
49,XXXXY Syndrome (Rare Diseases / Kidney & Urinary Diseases)
49,XXXXY Syndrome (Rare Diseases / Male Reproductive Diseases)
49,XXXXY Syndrome (Rare Diseases / Nervous System Diseases)
49, Xxxyy Syndrome (Rare Diseases / Miscellaneous)
5
5'-nucleotidase (Laboratory Medicine / Oncology)
5-alpha Reductase Deficiency (Rare Diseases / Endocrine Diseases)
5-alpha Reductase Deficiency (Rare Diseases / Female Reproductive Diseases)
5-alpha Reductase Deficiency (Rare Diseases / Kidney & Urinary Diseases)
5-alpha Reductase Deficiency (Rare Diseases / Male Reproductive Diseases)
5-hydroxyindoleacetic Acid (Laboratory Medicine / Oncology)
5-oxoprolinase Deficiency (Rare Diseases / Metabolic Disorders)
5q- Syndrome (Rare Diseases / Blood Diseases)
5q- Syndrome (Rare Diseases / Rare Cancers)
5q14.3 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases)