All terms in MONDO_RARE

Label Id Description
Kallmann syndrome MONDO_0018800 [Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).]
renal tubular transport disease MONDO_0006510 [Genetic defects in the selective or non-selective transport functions of the kidney tubules.]
kidney disorder MONDO_0005240 [A disease involving the kidney.]
coxopodopatellar syndrome MONDO_0007841 [Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.]
skeletal dysplasia MONDO_0018230 [Any Mendelian diseases that affects growth and development of the skeleton.]
joint laxity, familial MONDO_0007842 [A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.]
Ehlers-Danlos syndrome MONDO_0020066 [The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.]
NFKB1 7794
double-orifice mitral valve MONDO_0019819
NFKB2 7795
microcephaly-complex motor and sensory axonal neuropathy syndrome MONDO_0018507 [Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.]
adenohypophysitis MONDO_0019838 [An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period.]
anterior pituitary gland disorder MONDO_0024468 [A disease that involves the adenohypophysis.]
primary hypophysitis MONDO_0019835 [Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease).]
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.]
squamous cell carcinoma of the small intestine MONDO_0018509 [A carcinoma that arises from the small intestine. It is composed of malignant squamous cells.]
small intestine carcinoma MONDO_0005522 [A carcinoma that arises from epithelial cells of the small intestine]
squamous cell carcinoma MONDO_0005096 [A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.]
panhypophysitis MONDO_0019839