All terms in MONDO_CLINGEN

Label Id Description
deficiency anemia MONDO_0001639
anemia MONDO_0002280 [A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.]
focal dermal hypoplasia MONDO_0010592 [A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.]
X-linked syndromic intellectual disability MONDO_0020119 [A syndromic intellectual disability with an X-linked mode of inheritance.]
developmental defect during embryogenesis MONDO_0019755 [A disease that has its basis in the disruption of embryonic morphogenesis.]
soft tissue sarcoma MONDO_0018078 [A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.]
sarcoma MONDO_0005089 [A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.]
malignant soft tissue neoplasm MONDO_0024637 [A malignant neoplasm arising exclusively from the soft tissues.]
autosomal dominant cerebellar ataxia MONDO_0020380 [A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.]
inherited neurodegenerative disorder MONDO_0024237 [An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.]
cerebellar degeneration MONDO_0022687 [Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.]
hereditary dementia MONDO_0015547 [An instance of dementia that is caused by an inherited genomic modification in an individual.]
hereditary cerebellar ataxia MONDO_0100310 [Cerebellar ataxia that is transmitted from parent to child.]
neural tube defect MONDO_0018075 [A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.]
central nervous system malformation MONDO_0020022
IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO_0100162 [Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).]
immunodeficiency disease MONDO_0021094 [Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.]
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO_0008278
intestinal polyposis syndrome MONDO_0015185 [A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.]
retina neoplasm MONDO_0021231 [A neoplasm (disease) that involves the retina.]