Disease Index
9,486 diseasescongenital hypoplastic anemia
Human disease
MeSH: D029502
congenital hypothyroidism
hypothyroidism that is present at birth
MeSH: D003409
congenital hypothyroidism due to developmental anomaly
Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth
congenital hypothyroidism due to maternal intake of antithyroid drugs
human disease
congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent
congenital hypotrichosis milia
human disease
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
human disease
congenital ichthyosis-microcephalus-tetraplegia syndrome
human disease
congenital insensitivity to pain with anhidrosis
rare disease
congenital insensitivity to pain with hyperhidrosis
human disease
congenital insensitivity to pain with severe intellectual disability
human disease
congenital intestinal disease due to an enzymatic defect
human disease
congenital intestinal transport defect
human disease
congenital intrinsic factor deficiency
vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption
MeSH: C563242
congenital lactase deficiency
rare severe gastrointestinal disorder in newborns primarily reported in Finland
ICD: E73.0MeSH: C562600
congenital laryngeal cyst
human disease
congenital laryngeal palsy
congenital laryngeal web
Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords
MeSH: C537676
congenital lethal erythroderma
MeSH: C535513
congenital limb deformity
human disease
ICD: M21MeSH: D017880
Congenital lobar emphysema
Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung
MeSH: C535735
congenital malabsorptive diarrhea 4
congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has material basis in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3
MeSH: C563673
congenital megacalycosis
ICD: Q63.8
congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
congenital mesoblastic nephroma
Human disease
congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
human disease
congenital microgastria
congenital mitral malformation
human disease
congenital mitral stenosis
human disease
congenital mitral valve insufficiency and/or stenosis
human disease