All terms in MONDO_CLINGEN

Label Id Description
dominant RPE65 retinopathy MONDO_0100452 [A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.]
inherited glutathione synthetase deficiency MONDO_0017909 [Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.]
inherited glutathione metabolism disease MONDO_0040566 [An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.]
recessive GUCY2D retinopathy MONDO_0100453 [A retinopathy caused by biallelic variants in the GUCY2D gene.]
GUCY2D retinopathy MONDO_0100454 [Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.]
N-acetylaspartate deficiency MONDO_0013549
neonatal-onset developmental and epileptic encephalopathy MONDO_0100455 [A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.]
neonatal epilepsy syndrome MONDO_0020070
neonatal encephalopathy with non-epileptic myoclonus MONDO_0100456 [A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.]
cystathioninuria MONDO_0009058 [Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.]
MECOM-associated syndrome MONDO_0100458 [Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.]
Fanconi anemia complementation group G MONDO_0013565 [Fanconi anemia caused by mutations of the FANCG gene.]
orofaciodigital syndrome type 14 MONDO_0014413 [Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.]
orofaciodigital syndrome MONDO_0015375 [Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.]
Fanconi anemia complementation group L MONDO_0013566 [Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.]
multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO_0013563 [Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.]
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO_0017748
multiple congenital anomalies-hypotonia-seizures syndrome MONDO_0100247
Meier-Gorlin syndrome 7 MONDO_0014894 [Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.]
Meier-Gorlin syndrome MONDO_0016817 [Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).]