All terms in MONDO_CLINGEN

Label Id Description
retinal disorder MONDO_0005283 [Any disease or disorder of the retina.]
eye neoplasm MONDO_0021220 [A neoplasm (disease) that involves the eye.]
thrombocytopenia-absent radius syndrome MONDO_0010121 [Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.]
non-syndromic limb reduction defect MONDO_0019713
syndromic constitutional thrombocytopenia MONDO_0018795
thrombocytopenia 3 MONDO_0010120
RFT1-congenital disorder of glycosylation MONDO_0012783 [RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).]
congenital disorder of glycosylation type I MONDO_0005500 [A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.]
disorder of protein N-glycosylation MONDO_0017740 [A disease that has its basis in the disruption of protein N-linked glycosylation.]
congenital thrombotic thrombocytopenic purpura MONDO_0010122 [Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.]
inherited blood coagulation disorder MONDO_0021181 [Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.]
thrombotic thrombocytopenic purpura MONDO_0018896 [Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.]
Peutz-Jeghers syndrome MONDO_0008280 [Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.]
HELIOS deficiency MONDO_0800139 [A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.]
non-SCID combined immunodeficiency MONDO_0018814
periventricular nodular heterotopia 7 MONDO_0014966 [Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.]
periventricular nodular heterotopia MONDO_0020341 [Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.]
familial Mediterranean fever MONDO_0018088 [Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.]
hereditary periodic fever syndrome MONDO_0017953 [An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.]
immune system disorder MONDO_0005046 [A disorder resulting from an abnormality in the immune system.]