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 |
C1848680 |
4-hydroxyphenylacetic aciduria
|
phenotype |
Digestive System Diseases
|
Finding
|
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
1 |
C2936420 |
46, XX Gonadal Sex Reversal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
|
|
1 |
C4479552 |
46,XX SEX REVERSAL 4
|
disease |
|
Congenital Abnormality
|
|
|
1 |
C1856273 |
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
1 |
C2748896 |
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C2751325 |
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C3489793 |
46,XY Sex Reversal 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
1 |
C2752149 |
46,XY Sex Reversal 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
1 |
C3151064 |
46,XY SEX REVERSAL 6
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C2748897 |
46,Xy True Hermaphroditism, Sry-Related
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C4476851 |
5-minute APGAR score of 1
|
phenotype |
|
Finding
|
|
Abnormality of prenatal development or birth
|
1 |
C4476855 |
5-minute APGAR score of 5
|
phenotype |
|
Finding
|
|
Abnormality of prenatal development or birth
|
1 |
C0268525 |
5-oxoprolinase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
1 |
C1838099 |
ABCD syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C4531036 |
Abdominal situs ambiguus
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of the digestive system; Growth abnormality
|
1 |
C0238577 |
Abdominal wall defect
|
group |
|
Congenital Abnormality
|
physical disorder
|
Abnormality of the digestive system
|
1 |
C1969516 |
Aberrant melanosome maturation
|
phenotype |
|
Finding
|
|
Abnormality of the integument
|
1 |
C2004632 |
aberrant right subclavian artery
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
|
Abnormality of the cardiovascular system
|
1 |
C1860224 |
ABLEPHARON-MACROSTOMIA SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
C4023126 |
Abnormal activity of mitochondrial respiratory chain
|
phenotype |
|
Finding
|
|
Abnormality of metabolism/homeostasis; Abnormal cellular phenotype
|
1 |
C4023036 |
Abnormal albumin level
|
phenotype |
|
Finding
|
|
Abnormality of metabolism/homeostasis
|
1 |
C4022863 |
Abnormal alpha granule content
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of blood and blood-forming tissues
|
1 |
C4025834 |
Abnormal amplitude of pattern reversal visual evoked potentials
|
phenotype |
|
Finding
|
|
Abnormality of the eye
|
1 |
C4021748 |
Abnormal B cell morphology
|
disease |
|
Finding
|
|
Abnormality of the immune system; Abnormality of blood and blood-forming tissues
|
1 |