All terms in MONDO_RARE

Label Id Description
neurodegenerative disease MONDO_0005559 [A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.]
acute adrenal insufficiency MONDO_0019801 [Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.]
primary adrenal insufficiency MONDO_0015128 [A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.]
acute disease MONDO_0020683 [Disease having a short and relatively severe course.]
AP3B1 566
angioma serpiginosum MONDO_0019803 [Angioma serpiginosum (AS) is a benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.]
skin vascular disease MONDO_0019293 [A disease that involves the superficial vasculature.]
dermis tumor MONDO_0002300 [A benign, intermediate, or malignant neoplasm that arises from the dermis.]
skin hemangioma MONDO_0003110 [A hemangioma arising from the skin.]
capillary malformation MONDO_0016231
secondary short bowel syndrome MONDO_0019802 [Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.]
short bowel syndrome MONDO_0015183 [Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.]
hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO_0007818 [A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.]
hyper-IgE syndrome MONDO_0018037 [A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.]
solitary median maxillary central incisor syndrome MONDO_0007819 [A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.]
microform holoprosencephaly MONDO_0017219 [Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.]
holoprosencephaly 3 MONDO_0007733 [Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.]
inclusion body myositis MONDO_0007827 [A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.]
myositis disease MONDO_0021167 [An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.]
KRT6B 6444