Condition

21-Hydroxylase Deficiency

syndrome

disease

21); Acute Myeloblastic Leukemia With T(8

disease

disease

22Q11 Deletion Syndrome

syndrome

disease · Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases

22Q11 Partial Monosomy Syndrome

syndrome

disease

22Q13.3 Deletion Syndrome

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms

2Nd-5Th Toe Middle Phalangeal Hypoplasia

phenotype

phenotype

2P21 Microdeletion Syndrome

syndrome

disease

2P21 Microdeletion Syndrome Without Cystinuria

syndrome

disease

2Q23.1 Microdeletion Syndrome

syndrome

disease

2Q32Q33 Microdeletion Syndrome

syndrome

disease

2Q33.1 Microdeletion Syndrome

syndrome

disease

3 Beta-Hydroxysteroid Dehydrogenase Deficiency

syndrome

disease · Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Male Urogenital Diseases; Endocrine System Diseases

3-@Methylglutaconic Aciduria, Type I

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-@Methylglutaconic Aciduria, Type V

syndrome

disease · Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms

3-4 Finger Cutaneous Syndactyly

disease

disease

3-4 Finger Syndactyly

phenotype

phenotype

3-4 Toe Syndactyly

phenotype

phenotype

3-Beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency

syndrome

disease

3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Hydroxyacyl-Coa Dehydrogenase Deficiency

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Hydroxyisobutyric Aciduria

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylcrotonyl Coa Carboxylase 1 Deficiency

syndrome

disease · Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylcrotonyl Coa Carboxylase 2 Deficiency

syndrome

disease · Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylglutaconic Aciduria

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylglutaconic Aciduria Type 1

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylglutaconic Aciduria Type 2

syndrome

disease · Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylglutaconic Aciduria Type 3

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms

3-Methylglutaconic Aciduria Type 5

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylglutaconic Aciduria Type 7

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylglutaconic Aciduria Type Iv

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome

syndrome

disease

3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome

syndrome

disease

3-Methylglutaconic Aciduria, Type Ix

syndrome

disease

3-Methylglutaconic Aciduria, Type Viii

syndrome

disease

3-Methylglutaric Aciduria

phenotype

phenotype · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

3-Phosphoglycerate Dehydrogenase Deficiency

syndrome

disease

3C Syndrome

syndrome

disease · Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases

4-5 Finger Syndactyly

disease

disease

4-5 Toe Syndactyly

phenotype

phenotype

4-Hydroxyphenylacetic Aciduria

phenotype

phenotype · Digestive System Diseases

4-Hydroxyphenylpyruvic Aciduria

phenotype

phenotype

46, Xx Disorders of Sex Development

group

group · Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases

46, Xx Gonadal Sex Reversal

disease

disease · Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases

46, Xx Testicular Disorders of Sex Development

disease

disease · Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases

46, Xx True Hermaphrodite

syndrome

ICD-10 Q99.1

disease · Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases

46, Xy Disorders of Sex Development

group

group · Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases

46, Xy Female

syndrome

ICD-10 Q97.3

disease · Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases

46, Xy Sex Reversal 5

syndrome

disease · Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases