All terms in MONDO_CLINGEN

Label Id Description
tetrahydrobiopterin metabolic process disease MONDO_0045014 [A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.]
Joubert syndrome 30 MONDO_0033308
Joubert syndrome MONDO_0018772 [Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.]
electroclinical syndrome MONDO_0000411 [An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.]
angle-closure glaucoma MONDO_0001744 [The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.]
neonatal period electroclinical syndrome MONDO_0000412 [An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.]
epilepsy MONDO_0005027 [A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.]
nemaline myopathy 5 MONDO_0011539 [Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.]
respiratory or thoracic malformation MONDO_0020001
Pfeiffer syndrome MONDO_0007043 [Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.]
Perrault syndrome 2 MONDO_0013972 [Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.]
Perrault syndrome MONDO_0017312 [Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.]
syndromic X-linked intellectual disability Nascimento type MONDO_0010461 [X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.]
branched-chain keto acid dehydrogenase kinase deficiency MONDO_0013970 [A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.]
ACOX1 upregulation MONDO_0030073
Kabuki syndrome 2 MONDO_0010465
intestinal neoplasm MONDO_0021118 [A benign or malignant neoplasm involving the small or large intestine.]
intestinal disorder MONDO_0005020 [A non-neoplastic or neoplastic disorder that affects the small or large intestine.]
lung neoplasm MONDO_0021117 [A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.]
neoplasm of thorax MONDO_0021350 [A neoplasm (disease) that involves the thoracic segment of trunk.]