All terms in MONDO_CLINGEN

Label Id Description
FGFR3-related chondrodysplasia MONDO_0019685
Fanconi anemia complementation group D2 MONDO_0009214 [Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.]
Unverricht-Lundborg syndrome MONDO_0009698 [Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.]
progressive myoclonus epilepsy MONDO_0020074 [A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.]
Fanconi anemia complementation group C MONDO_0009213 [Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.]
Lafora disease MONDO_0009697 [Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.]
disorder of glycogen metabolism MONDO_0002412 [An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.]
Adams-Oliver syndrome MONDO_0007034 [Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.]
congenital factor X deficiency MONDO_0009212 [Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.]
factor X deficiency MONDO_0002247 [A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.]
Haddad syndrome MONDO_0020493 [Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.]
intestinal motility disease MONDO_0021189 [A disease that has its basis in the disruption of intestinal motility.]
congenital factor V deficiency MONDO_0009210 [Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.]
Knobloch syndrome 1 MONDO_0800167
Knobloch syndrome MONDO_0800166
Apert syndrome MONDO_0007041 [Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.]
acrocephalosyndactyly MONDO_0019796 [Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.]
thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO_0012872
inherited thrombophilia MONDO_0100240 [An instance of thrombophilia that is inherited.]
Saethre-Chotzen syndrome MONDO_0007042 [Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.]