All terms in MONDO_CLINGEN

Label Id Description
FOXG1 disorder MONDO_0100040 [A monogenic disease that has material basis in mutation in the FOXG1 gene.]
epidermodysplasia verruciformis, susceptibility to MONDO_0100043
hypoplasminogenemia MONDO_0009009 [Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.]
immunodeficiency-centromeric instability-facial anomalies syndrome 3 MONDO_0014828 [Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.]
immunodeficiency-centromeric instability-facial anomalies syndrome MONDO_0000133 [The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.]
Jalili syndrome MONDO_0009007 [Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).]
isobutyryl-CoA dehydrogenase deficiency MONDO_0012648 [An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).]
primary ciliary dyskinesia 19 MONDO_0013979 [Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.]
immunodeficiency-centromeric instability-facial anomalies syndrome 4 MONDO_0014829 [Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.]
oculocerebrofacial syndrome, Kaufman type MONDO_0009485
hearing loss, X-linked 6 MONDO_0010484 [Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.]
X-linked nonsyndromic hearing loss MONDO_0019586 [X-linked form of nonsyndromic deafness.]
structural congenital heart disease, multiple types - GATA4 MONDO_0100009 [Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene.]
congenital heart disease MONDO_0005453 [A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.]
Rothmund-Thomson syndrome MONDO_0010002 [Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.]
Usher syndrome type 2D MONDO_0012662 [Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.]
Usher syndrome type 2 MONDO_0016484 [A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.]
MEGF8-related Carpenter syndrome MONDO_0013998 [Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.]
familial hemophagocytic lymphohistiocytosis 2 MONDO_0011337 [Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.]
Sandhoff disease MONDO_0010006 [Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration.]