All terms in MONDO_CLINGEN

Label Id Description
mesenchymal tumor of small intestine MONDO_0018506
small intestine neoplasm MONDO_0004251 [A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.]
hereditary gastric cancer MONDO_0018502 [Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.]
gastric carcinoma MONDO_0004950 [A carcinoma that arises from epithelial cells of the stomach.]
Niemann-Pick disease type C MONDO_0018982 [NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.]
Niemann-Pick disease MONDO_0001982 [A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.]
palmoplantar keratoderma-esophageal carcinoma syndrome MONDO_0007856 [An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.]
achondrogenesis type II MONDO_0008702 [Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.]
achondrogenesis MONDO_0019648 [Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.]
type 2 collagenopathy MONDO_0022800 [Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.]
nephronophthisis 16 MONDO_0014158 [Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.]
inherited dystonia MONDO_0044807 [An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.]
diffuse palmoplantar keratoderma MONDO_0017666 [Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.]
hereditary palmoplantar keratoderma MONDO_0019272 [An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.]
Leber congenital amaurosis MONDO_0018998 [Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.]
Noonan syndrome MONDO_0018997 [Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.]
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO_0015160
lymphatic malformation MONDO_0019313 [Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.]
Noonan syndrome and Noonan-related syndrome MONDO_0020297
Charcot-Marie-Tooth disease type X MONDO_0018994 [A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.]