All terms in MONDO_RARE

Label Id Description
bullous diffuse cutaneous mastocytosis MONDO_0017243 [Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.]
intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO_0018573
benign peripheral nerve granular cell tumor MONDO_0056805 [A benign granular cell tumor that involves the nerve.]
benign granular cell tumor MONDO_0003250 [A granular cell tumor that is confined to the site of origin, without metastatic potential.]
NDUFS3 7710
developmental and epileptic encephalopathy, 81 MONDO_0032858
hypophosphatasia MONDO_0018570 [Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).]
inborn errors of metabolism MONDO_0019052 [An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.]
spermatogenic failure 40 MONDO_0032859
NDUFS4 7711
NDUFS7 7714
synovial bursa disorder MONDO_0056802 [A disease or disorder that involves the synovial bursa.]
synovium disorder MONDO_0056799 [A disease or disorder that involves the layer of synovial tissue.]
carotid artery disorder MONDO_0005269 [A disease involving the carotid artery segment.]
NDUFS6 7713
sulfur metabolism disease MONDO_0056803 [A disease that has its basis in the disruption of sulfur compound metabolic process.]
mineral metabolism disease MONDO_0000226
zimmermann-laband syndrome 3 MONDO_0032854
Zimmermann-Laband syndrome MONDO_0000200 [Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.]
NDUFV1 7716