All terms in MONDO_RARE

Label Id Description
inherited primary ovarian failure MONDO_0019852 [An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.]
primary ovarian failure MONDO_0005387 [Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.]
female infertility MONDO_0021124 [Diminished or absent ability of a female to achieve conception.]
squamous cell carcinoma of pancreas MONDO_0018521 [A squamous cell carcinoma that involves the pancreas.]
pontocerebellar hypoplasia, type 13 MONDO_0032831
pontocerebellar hypoplasia MONDO_0020135 [Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.]
acquired primary ovarian failure MONDO_0019851 [An instance of primary ovarian failure that is acquired during the lifetime of the individual.]
pancreatic mucinous cystadenoma MONDO_0018523 [A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.]
mucinous cystadenoma MONDO_0006859 [A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.]
pancreatic cystadenoma MONDO_0002809 [A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.]
mucin-producing carcinoma MONDO_0020596
thyroid ectopia MONDO_0019854 [Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.]
exanthem MONDO_0006547 [Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.]
skin disorder MONDO_0005093 [Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.]
congenital laryngomalacia MONDO_0007878 [Increased collapsibility of the larynx.]
laryngeal disorder MONDO_0004382 [A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.]
vulvar carcinoma MONDO_0005215 [A carcinoma that arises from epithelial cells of the mammalian vulva]
vulva cancer MONDO_0001528 [A primary or metastatic malignant neoplasm involving the vulva.]
intellectual developmental disorder 60 with seizures MONDO_0032823
larynx atresia MONDO_0007879 [A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.]