All terms in MONDO_CLINGEN

Label Id Description
Wilson disease MONDO_0010200 [A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.]
X-linked centronuclear myopathy MONDO_0010683 [A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.]
osteogenesis imperfecta MONDO_0019019 [Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.]
acrocephalopolysyndactyly MONDO_0000078 [A common presentation of craniosynostosis and polysyndactyly.]
Charcot-Marie-Tooth disease type 1 MONDO_0019011 [Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.]
nonsyndromic genetic hearing loss MONDO_0019497 [A disease characterized by hearing loss that is not part of a larger syndrome.]
hearing loss disorder MONDO_0005365 [A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.]
congenital isolated hyperinsulinism MONDO_0019010 [Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.]
familial hyperinsulinism MONDO_0017182 [An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.]
neurometabolic disorder due to serine deficiency MONDO_0018162 [Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.]
inborn serine deficiency MONDO_0000421 [An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.]
tuberous sclerosis MONDO_0001734 [Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.]
neurocutaneous syndrome MONDO_0042983 [A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.]
TTN-related myopathy MONDO_0100175 [A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.]
qualitative or quantitative defects of titin MONDO_0016191
AP-4 deficiency syndrome MONDO_0100176 [A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.]
neurofibromatosis type 2 MONDO_0007039 [A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.]
hyper-IgM syndrome type 2 MONDO_0011528 [A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.]
Fanconi anemia complementation group A MONDO_0009215 [Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.]
Achondroplasia MONDO_0007037 [Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.]