All terms in MONDO_RARE

Label Id Description
isolated glycerol kinase deficiency MONDO_0018459 [Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).]
disorder of gluconeogenesis MONDO_0019225 [An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.]
glycerol kinase deficiency, adult form MONDO_0017296 [Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.]
chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids MONDO_0017297
craniotubular dysplasia, Ikegawa type MONDO_0859226
acute zonal occult outer retinopathy MONDO_0017298 [Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.]
reversible cerebral vasoconstriction syndrome MONDO_0017291 [Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.]
headache disorder MONDO_0021146 [Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)]
well-differentiated fetal adenocarcinoma of the lung MONDO_0017292 [Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.]
tubular adenocarcinoma MONDO_0005606 [An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.]
lung adenocarcinoma MONDO_0005061 [A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.]
heterotaxy, visceral, 12, autosomal MONDO_0859222
glycerol kinase deficiency, infantile form MONDO_0017294 [Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.]
inborn glycerol kinase deficiency MONDO_0010613 [An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.]
congenital disorder of glycosylation, type Iw, autosomal dominant MONDO_0859223
intrahepatic cholestasis MONDO_0019072 [A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.]
liver disorder MONDO_0005154 [A disease involving the liver.]
pontocerebellar hypoplasia, type 1E MONDO_0030260
developmental and epileptic encephalopathy 6B MONDO_0030268
pontocerebellar hypoplasia, type 1F MONDO_0030261