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 |
C4274528 |
1q41q42 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
4 |
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
|
|
6 |
0 |
C4551570 |
2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
85 |
16 |
C4021236 |
2-4 finger syndactyly
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
0 |
C4021622 |
2-4 toe cutaneous syndactyly
|
disease |
|
Anatomical Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
0 |
C4021234 |
2-4 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
2 |
0 |
C4023736 |
2-5 finger syndactyly
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
0 |
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
|
|
8 |
10 |
C1864912 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
4 |
C2198591 |
2-methylbutyrylglycinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
0 |
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 |
C4304539 |
20p12.3 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C0852654 |
21-hydroxylase deficiency
|
disease |
|
Disease or Syndrome
|
|
|
55 |
28 |
C2936346 |
22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
|
|
31 |
2 |
C3266101 |
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
|
|
12 |
0 |
C1853490 |
22q13.3 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
15 |
10 |
C1861376 |
2nd-5th toe middle phalangeal hypoplasia
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
2 |
0 |
C4304537 |
2p21 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
4 |
0 |
C4749458 |
2p21 microdeletion syndrome without cystinuria
|
disease |
|
Disease or Syndrome
|
|
|
2 |
0 |