All terms in MONDO_CLINGEN

Label Id Description
weiss-kruszka syndrome MONDO_0032836
methionine adenosyltransferase deficiency MONDO_0009607 [Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.]
primary ciliary dyskinesia 22 MONDO_0014192 [Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.]
3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO_0009603 [Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.]
inborn disorder of branched-chain amino acid metabolism MONDO_0019242 [An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.]
pneumonia MONDO_0005249 [An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.]
infectious disease MONDO_0005550 [A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.]
peripheral neuropathy MONDO_0005244 [A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.]
neuromuscular disease MONDO_0019056 [Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions]
alkaptonuria MONDO_0008753 [A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).]
lipodystrophy MONDO_0006573 [A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.]
ciliary dyskinesia, primary, 43 MONDO_0032874
mitochondrial oxidative phosphorylation disorder MONDO_0016387
inborn mitochondrial metabolism disorder MONDO_0004069 [Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.]
ciliary dyskinesia, primary, 42 MONDO_0032872
RAB18 deficiency MONDO_0700247 [Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.]
syndromic microphthalmia MONDO_0016073 [A microphthalmia that is part of a larger syndrome.]
spermatogenic failure 18 MONDO_0054615
autism spectrum disorder MONDO_0005258 [A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.]
pervasive developmental disorder MONDO_0000594 [A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.]