All terms in MONDO_CLINGEN

Label Id Description
renal-hepatic-pancreatic dysplasia 2 MONDO_0014174 [Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.]
renal-hepatic-pancreatic dysplasia MONDO_0017417 [A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.]
hypotonia, ataxia, and delayed development syndrome MONDO_0015021
xeroderma pigmentosum-Cockayne syndrome complex MONDO_0016354 [Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).]
hereditary photodermatosis MONDO_0015951 [Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.]
hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO_0014176 [A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).]
MYPN-related myopathy MONDO_0015023 [Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.]
mitochondrial DNA depletion syndrome 12 MONDO_0014175 [An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.]
mitochondrial DNA depletion syndrome MONDO_0018158 [The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.]
Crouzon syndrome MONDO_0007405 [Crouzon disease is characterized by craniosynostosis and facial hypoplasia.]
hereditary leiomyomatosis and renal cell cancer MONDO_0007888 [Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.]
neurodevelopmental disorder with cerebellar atrophy and with or without seizures MONDO_0020841
Joubert syndrome with ocular defect MONDO_0016364 [Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.]
Joubert syndrome and related disorders MONDO_0015369 [Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.]
familial hypoparathyroidism MONDO_0016390 [A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.]
calcium metabolic disease MONDO_0005557 [Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.]
severe congenital neutropenia MONDO_0018542
constitutional neutropenia MONDO_0015134 [A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.]
familial primary hyperparathyroidism MONDO_0016365 [An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.]
hereditary hyperparathyroidism MONDO_0016166 [An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual.]