All terms in MONDO_CLINGEN

Label Id Description
isovaleric acidemia MONDO_0009475 [Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.]
primary ciliary dyskinesia 1 MONDO_0009484 [Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.]
neurodevelopmental disorder with language impairment and behavioral abnormalities MONDO_0030060
platelet-type bleeding disorder 20 MONDO_0014830 [Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.]
hypogonadotropic hypogonadism 3 with or without anosmia MONDO_0009482 [Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.]
osteoglophonic dwarfism MONDO_0008150 [Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.]
musculoskeletal system disorder MONDO_0002081 [A disease involving the musculoskeletal system.]
Cernunnos-XLF deficiency MONDO_0012650 [Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.]
Joubert syndrome with oculorenal defect MONDO_0009480 [Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.]
arhinia, choanal atresia, and microphthalmia MONDO_0011323
laminopathy MONDO_0021106 [A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.]
Fanconi anemia complementation group F MONDO_0011325 [Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.]
spinal muscular atrophy MONDO_0001516 [Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.]
motor neuron disorder MONDO_0020128 [A disease involving the motor neuron.]
anterior horn disorder MONDO_0003182 [Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.]
hereditary epidermal appendage anomaly MONDO_0021026 [An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.]
hyperpigmentation of the skin MONDO_0019289
skin pigmentation disorder MONDO_0019288 [A pigmentation disease that involves the zone of skin.]
entropion MONDO_0001519 [The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)]
eyelid disorder MONDO_0003382 [A disease involving the eyelid.]