C4025774 |
1-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
1 |
C4023728 |
1-5 finger syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
1 |
C1839731 |
11 pairs of ribs
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
3 |
3 |
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 |
4 |
C4551570 |
2-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
14 |
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 |
8 |
C1864912 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
3 |
C1853490 |
22q13.3 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
1 |
9 |
C0342471 |
3 beta-Hydroxysteroid dehydrogenase 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
|
genetic disease; disease of metabolism
|
|
1 |
9 |
C1856889 |
3-4 finger syndactyly
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
1 |
C1834062 |
3-4 toe syndactyly
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
1 |
C0342727 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
2 |
C1857776 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
1 |
C2751532 |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
1 |
8 |
C1291230 |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
1 |
C0268600 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism; disease of anatomical entity
|
|
1 |
25 |
C1859499 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism; disease of anatomical entity
|
|
1 |
12 |
C0574083 |
3-Methylglutaconic aciduria type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
22 |
C0574084 |
3-Methylglutaconic aciduria type 3
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
11 |
C4225393 |
3-methylglutaconic aciduria type 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
19 |
C3553597 |
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
7 |
C4540171 |
3-METHYLGLUTACONIC ACIDURIA, TYPE IX
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
2 |
C3151952 |
3-Methylglutaric aciduria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Finding
|
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotype
|
1 |
1 |
C0796137 |
3C syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
6 |