All terms in MONDO_CLINGEN

Label Id Description
familial hemophagocytic lymphohistiocytosis 4 MONDO_0011336 [Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.]
anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO_0010480 [An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with CNSHA have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.]
anemia, nonspherocytic hemolytic MONDO_0000105
anemia due to erythrocyte enzyme disorder MONDO_0020585 [Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.]
inborn disorder of pentose phosphate metabolism MONDO_0019231
lymphedema MONDO_0019297 [Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.]
lymphatic system disorder MONDO_0005833 [A disease involving the lymphatic part of lymphoid system.]
angioedema MONDO_0010481 [Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.]
skin vascular disease MONDO_0019293 [A disease that involves the superficial vasculature.]
urticaria MONDO_0005492 [A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.]
blood coagulation disease MONDO_0001531 [A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.]
inborn organic aciduria MONDO_0000688 [An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.]
autosomal dominant titinopathy MONDO_0100494 [Autosomal dominant form of TTN-related myopathy.]
thrombocytopenia 6 MONDO_0014837
hereditary disorder of connective tissue MONDO_0023603 [An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.]
myeloproliferative neoplasm MONDO_0020076 [A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)]
UROD-related inherited porphyria MONDO_0100498 [Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.]
Charcot-Marie-Tooth disease axonal type 2CC MONDO_0014836 [Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.]
headache disorder MONDO_0021146 [Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)]
neurological pain disorder MONDO_0700057 [A nervous system disorder that has pain as a major feature.]