Disease Index
9,486 diseasescongenital absence of upper arm and forearm with hand present, unilateral
human disease
congenital absence/hypoplasia of fingers excluding thumb
human disease
congenital absence/hypoplasia of fingers excluding thumb, bilateral
human disease
congenital absence/hypoplasia of fingers excluding thumb, unilateral
Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)
MeSH: C562417
congenital absence/hypoplasia of thumb, bilateral
congenital absence/hypoplasia of thumb, unilateral
Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb
congenital achiasma
congenital adrenal hyperplasia
steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper- or hypo-androgeny manifestations resulting from steroidogenic enzyme deficiency
MeSH: D000312
congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
medical condition
MeSH: C535978
congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency
medical condition
congenital adrenal hyperplasia due to 21-hydroxylase deficiency
medical condition
ICD: E25.0
congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency
medical condition
ICD: E25.0
congenital adrenal hypoplasia of maternal cause
human disease
congenital adrenal insufficiency
Human disease
MeSH: C566130
congenital afibrinogenemia
Human disease
MeSH: D000347
congenital alacrima
human disease
congenital amegakaryocytic thrombocytopenia
thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has material basis in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34
MeSH: C535982
congenital anemia
Human disease
ICD: P61.4
congenital anomaly of hepatic vein
human disease
congenital anomaly of superior vena cava
human disease
congenital anomaly of the coronary sinus
human disease
congenital anomaly of the great arteries
human disease
congenital anomaly of the great veins
human disease
congenital anomaly of the inferior vena cava
human disease
congenital anomaly of ventricular septum
human disease
congenital anosmia
Human disease
MeSH: C535983
congenital aortic insufficiency
Human disease
ICD: Q23.1
congenital aortic stenosis
human disease
ICD: Q23.0
congenital aortopulmonary window
rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery
MeSH: C537782
congenital aphakia
Human disease