Condition

^A^Gamma Delta Beta^0^ Thalassemia

syndrome

disease · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases

(Idiopathic) Normal Pressure Hydrocephalus

syndrome

disease · Nervous System Diseases

(Non-Specific) Purulent Meningitis

syndrome

disease

[D]Sleep Disturbances (& [Hypersomnia] Or [Insomnia])

phenotype

phenotype

[X]Spinal Osteochondrosis, Unspecified

syndrome

ICD-10 M42.9; M42

disease · Musculoskeletal Diseases

1-3 Toe Syndactyly

disease

disease

1-5 Finger Complete Cutaneous Syndactyly

phenotype

phenotype

1-5 Finger Syndactyly

disease

disease

1-5 Toe Syndactyly

disease

disease

1-Minute Apgar Score of 0

phenotype

phenotype

1-Minute Apgar Score of 1

phenotype

phenotype

11 Pairs of Ribs

phenotype

phenotype

11-Beta-Hydroxylase 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

11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency

syndrome

disease

11Q23); B Lymphoblastic Leukemia Lymphoma With T(V; Mll Rearranged

disease

disease

12P12.1 Microdeletion Syndrome

syndrome

disease

12Q14 Microdeletion Syndrome

phenotype

phenotype · Endocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases

14) Type, Susceptibility To; Multiple Myeloma, T(11

phenotype

phenotype

14Q11.2 Microduplication Syndrome

syndrome

disease

14Q12 Microdeletion Syndrome

syndrome

disease

15Q Overgrowth Syndrome

syndrome

disease · Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms

15Q24 Microdeletion

disease

disease · Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms

16Q24.3 Microdeletion Syndrome

syndrome

disease

17 Hydroxyprogesterone Measurement

phenotype

phenotype

17-Alpha-Hydroxylase/17,20 Lyase Deficiency

syndrome

disease

17-Hydroxysteroid Dehydrogenase Deficiency

syndrome

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

17,20-Desmolase Deficiency

syndrome

disease

17,20-Lyase Deficiency, Isolated

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

17P11.2 Monosomy

phenotype

phenotype · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases

17Q12 Microdeletion Syndrome

syndrome

disease

1P21.3 Microdeletion Syndrome

phenotype

phenotype · Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms

1P31P32 Microdeletion Syndrome

syndrome

disease

1Q41Q42 Microdeletion Syndrome

syndrome

disease

1Q44 Microdeletion Syndrome

syndrome

disease

2-3 Toe Syndactyly

disease

disease

2-4 Finger Syndactyly

phenotype

phenotype

2-4 Toe Cutaneous Syndactyly

disease

disease

2-4 Toe Syndactyly

disease

disease

2-5 Finger Syndactyly

phenotype

phenotype

2-Aminoadipic 2-Oxoadipic Aciduria

disease

disease

2-Methyl-3-Hydroxybutyric Aciduria

phenotype

phenotype · Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms

2-Methylbutyryl-Coa Dehydrogenase Deficiency

syndrome

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

2-Methylbutyrylglycinuria

syndrome

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

2-Oxo-Hept-3-Ene-1,7-Dioate Hydratase Activity

phenotype

phenotype

2-Succinyl-5-Enolpyruvyl-6-Hydroxy-3-Cyclohexene-1-Carboxylic-Acid Synthase Activity

phenotype

phenotype

2,4-Dienoyl-Coa Reductase Deficiency

syndrome

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

2,8-Dihydroxyadenine Urolithiasis

syndrome

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

20P12.3 Microdeletion Syndrome

syndrome

disease