Congenital Ichthyosiform Erythroderma disease
Autosomal Recessive Congenital Ichthyosis, also known as lamellar ichthyosis, is related to ichthyosis, congenital, autosomal recessive 1 and ichthyosis, congenital, autosomal recessive 2. An important gene associated with Autosomal Recessive Congenital Ichthyosis is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathw ...
Congenital Stationary Night Blindness disease
Congenital Stationary Night Blindness, also known as night blindness, congenital stationary, is related to night blindness, congenital stationary, type 1a and x-linked congenital stationary night blindness. An important gene associated with Congenital Stationary Night Blindness is NYX (Nyctalopin), and among its related pathways/superpathways ...
Congenital Glaucoma disease
Glaucoma 3, Primary Congenital, a, also known as buphthalmos, is related to gillespie syndrome and aniridia 1, and has symptoms including early vision loss An important gene associated with Glaucoma 3, Primary Congenital, a is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1), and among its related pathways/superpathways are Diseases of g ...
Congenital Mirror Movements disease
Mirror Movements 1, also known as congenital mirror movement disorder, is related to klippel-feil syndrome and melanoma. An important gene associated with Mirror Movements 1 is DCC (DCC Netrin 1 Receptor), and among its related pathways/superpathways is Regulation of commissural axon pathfinding by SLIT and ROBO. Affiliated tissues include bra ...
Congenital Sodium Diarrhea disease
Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies, also known as diarrhea 3, secretory sodium, congenital, syndromic, is related to diarrhea 8, secretory sodium, congenital and diarrhea, and has symptoms including diarrhea and watery diarrhea. An important gene associated with Diarrhea 3, Secretory Sodium, Co ...
Congenital Hereditary Endothelial Dystrophy Type II disease
Corneal Endothelial Dystrophy, also known as congenital hereditary endothelial dystrophy of cornea, is related to corneal dystrophy and perceptive deafness and corneal dystrophy, endothelial, x-linked. An important gene associated with Corneal Endothelial Dystrophy is SLC4A11 (Solute Carrier Family 4 Member 11). The drugs Prednisolone phosphat ...
Dyskeratosis Congenita disease
Dyskeratosis Congenita, X-Linked, also known as x-linked dyskeratosis congenita, is related to dyskeratosis congenita autosomal recessive and revesz syndrome, and has symptoms including onychomadesis An important gene associated with Dyskeratosis Congenita, X-Linked is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/su ...
Congenital Diaphragmatic Hernia disease
Diaphragmatic Hernia, Congenital, also known as congenital diaphragmatic hernia, is related to microphthalmia, syndromic 12 and donnai-barrow syndrome. An important gene associated with Diaphragmatic Hernia, Congenital is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are G-protein signaling_Rap2B regulation pathw ...
Congenital Nephrotic Syndrome disease
Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to nephrotic syndrome, type 2 and nephrotic syndrome, type 21, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is NPHS1 (NPHS1 Adhesion Molecule, Nephrin), and among its related pathways/superpathways are Cell jun ...
Congenital Adrenal Hyperplasia 1 disease
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency, also known as 21-hydroxylase deficiency, is related to lipoid congenital adrenal hyperplasia and ehlers-danlos syndrome. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member ...