All terms in MONDO_RARE

Label Id Description
large cell carcinoma MONDO_0005232 [A malignant epithelial neoplasm composed of large, atypical cells.]
smoldering plasma cell myeloma MONDO_0005235 [A plasma cell myeloma lacking clinical manifestations and organ impairment.]
plasma cell myeloma MONDO_0009693 [A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)]
inverted follicular keratosis MONDO_0006563 [Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.]
seborrheic keratosis MONDO_0008420 [A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.]
Leri pleonosteosis MONDO_0007894 [Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.]
acromelic dysplasia MONDO_0019695
platyspondylic dysplasia, Torrance type MONDO_0007895
type 2 collagenopathy MONDO_0022800 [Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.]
spondylodysplastic dysplasia MONDO_0019694
irritant dermatitis MONDO_0006564 [An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.]
Lenz-Majewski hyperostotic dwarfism MONDO_0007892 [Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.]
Noonan syndrome with multiple lentigines MONDO_0007893 [A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.]
Noonan syndrome and Noonan-related syndrome MONDO_0020297
familial generalized lentiginosis MONDO_0007891 [Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.]
hyperpigmentation of the skin MONDO_0019289
mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 MONDO_0020858
mitochondrial complex deficiency MONDO_0000066
ovarian dysgenesis 7 MONDO_0020857
46 XX gonadal dysgenesis MONDO_0009299 [46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.]