All terms in MONDO_CLINGEN

Label Id Description
disorder of plasmalogens biosynthesis MONDO_0017986
disorder of peroxisomal transporter defect MONDO_0100372 [Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.]
disorder of peroxisomal beta oxidation MONDO_0019233
distal renal tubular acidosis MONDO_0015827 [Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.]
kidney disorder MONDO_0005240 [A disease involving the kidney.]
Ehlers-Danlos syndrome, cardiac valvular type MONDO_0009159 [Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.]
heart disorder MONDO_0005267 [A disease involving the heart and/or pericardium.]
Ehlers-Danlos syndrome MONDO_0020066 [The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.]
EEM syndrome MONDO_0009155 [EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).]
hereditary macular dystrophy MONDO_0020242 [Macular dystrophy that is related to a change in a gene.]
Brugada syndrome 1 MONDO_0011001 [Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.]
Brugada syndrome MONDO_0015263 [A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.]
rhizomelic chondrodysplasia punctata type 4 MONDO_0014510
eye disorder MONDO_0005328 [A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.]
chondrodysplasia punctata MONDO_0019701 [A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.]
fatty acyl-CoA reductase defects MONDO_0100275 [Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.]
Troyer syndrome MONDO_0010156 [Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.]
Dorfman-Chanarin disease MONDO_0010155
neutral lipid storage disease MONDO_0015611 [Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.]
myofibrillar myopathy 8 MONDO_0014993 [Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.]