All terms in MONDO_RARE

Label Id Description
immune deficiency, familial variable MONDO_0007814
common variable immunodeficiency MONDO_0015517 [Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.]
ichthyosis, lamellar, autosomal dominant MONDO_0007812
lamellar ichthyosis MONDO_0017778 [A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.]
superficial epidermolytic ichthyosis MONDO_0007813 [Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.]
exfoliative ichthyosis MONDO_0017339 [Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.]
autosomal dominant ichthyosis vulgaris MONDO_0007810 [Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.]
ichthyosis vulgaris MONDO_0024304 [The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.]
autosomal dominant disease MONDO_0000426 [Autosomal dominant form of disease.]
HOXA11 5101
twin to twin transfusion syndrome MONDO_0019805 [Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated]
immune system disorder MONDO_0005046 [A disorder resulting from an abnormality in the immune system.]
neonatal anemia MONDO_0001240 [The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.]
tracheomalacia MONDO_0019804 [Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.]
tracheal disorder MONDO_0002567 [A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.]
otorhinolaryngologic disease MONDO_0024623 [Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.]
mesocardia MONDO_0019807
congenital heart malformation MONDO_0019512 [A disease that has its basis in the disruption of heart development.]
AP3D1 568
primary progressive aphasia MONDO_0019806 [Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).]