C4025774 |
1-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
0 |
1 |
C4023728 |
1-5 finger syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
0 |
1 |
C1839731 |
11 pairs of ribs
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
0 |
3 |
C3669121 |
11-Beta-hydroxylase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
1 |
0 |
C4755260 |
12p12.1 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C4305140 |
12q14 microdeletion syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
2 |
0 |
C4749855 |
14q11.2 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C4305240 |
14q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C3697269 |
15q24 Microdeletion
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
genetic disease
|
|
1 |
0 |
C4304594 |
16q24.3 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C0202075 |
17 Hydroxyprogesterone measurement
|
phenotype |
|
Laboratory Procedure
|
|
|
0 |
19 |
C3277849 |
17,20-Lyase Deficiency, Isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
0 |
C0268296 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
1 |
17 |
C3661485 |
17p11.2 Monosomy
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Cell or Molecular Dysfunction
|
|
|
1 |
0 |
C4304578 |
1p21.3 microdeletion syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
1 |
0 |
C4707828 |
1p31p32 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
genetic disease
|
|
1 |
0 |
C4304540 |
1q44 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C1857252 |
2,4-Dienoyl-CoA Reductase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
2 |
0 |
C3665382 |
2,8-Dihydroxyadenine Urolithiasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
0 |
C4551570 |
2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
0 |
16 |
C1859817 |
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
|
disease |
|
Finding
|
genetic disease; disease of metabolism
|
|
1 |
6 |
C3266731 |
2-methyl-3-hydroxybutyric aciduria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
1 |
10 |
C1864912 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
4 |
C1150929 |
2-oxo-hept-3-ene-1,7-dioate hydratase activity
|
phenotype |
|
Molecular Function
|
|
|
14 |
0 |
C2610861 |
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
|
phenotype |
|
Molecular Function
|
|
|
1 |
0 |