All terms in MONDO_CLINGEN

Label Id Description
dementia MONDO_0001627 [Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.]
cognitive disorder MONDO_0002039 [A disease affects cognitive processes.]
hyperprolinemia MONDO_0023419 [Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.]
inborn disorder of proline metabolism MONDO_0017355 [An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.]
RYR1-related myopathy MONDO_0100150 [A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.]
congenital myopathy MONDO_0019952
dyskeratosis congenita MONDO_0015780 [Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.]
tubulinopathy MONDO_0100153 [A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.]
nervous system disorder MONDO_0005071 [A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.]
Fanconi anemia MONDO_0019391 [Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.]
congenital limb malformation MONDO_0019054
bone marrow disorder MONDO_0003225 [Any disease of the bone marrow.]
DNA repair disease MONDO_0021190 [A disease that has its basis in the disruption of DNA repair.]
developmental anomaly of metabolic origin MONDO_0015327
dysostosis MONDO_0018234 [A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.]
inherited aplastic anemia MONDO_0001713 [An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.]
multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO_0015161
telomere syndrome MONDO_0100137 [Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.]
congenital hematological disorder MONDO_0009332 [A disorder of the blood that is present at birth.]
congenital fibrinogen deficiency MONDO_0018060 [Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).]