All terms in MONDO_CLINGEN

Label Id Description
familial mucolipidosis MONDO_0031422
pseudoachondroplasia MONDO_0008322 [Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.]
peripheral vascular disease MONDO_0005294 [Any disorder affecting blood flow through the veins or arteries outside of the heart.]
GNPTG-mucolipidosis MONDO_0009652 [A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.]
Menkes disease MONDO_0010651 [A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.]
disorder of copper metabolism MONDO_0017762 [An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.]
Renpenning syndrome MONDO_0010653 [An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.]
Crouzon syndrome-acanthosis nigricans syndrome MONDO_0012833 [Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).]
oculocutaneous albinism type 1 MONDO_0018135 [Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).]
antecubital pterygium syndrome MONDO_0008339
dermis disorder MONDO_0021154 [A disease that involves the dermis.]
oculocerebrorenal syndrome MONDO_0010645 [Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.]
holocarboxylase synthetase deficiency MONDO_0009666 [A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.]
metabolic epilepsy MONDO_0100033 [Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.]
biotinidase deficiency MONDO_0009665 [Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.]
mulibrey nanism MONDO_0009664 [A prenatal onset growth disorder with multiorgan manifestations.]
disorder of defective peroxisome oxidative status MONDO_0100306 [Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.]
pseudo-von Willebrand disease MONDO_0008332 [A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.]
hereditary von Willebrand disease MONDO_0019565 [Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).]
mucopolysaccharidosis type 7 MONDO_0009662 [Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.]