All terms in MONDO_CLINGEN

Label Id Description
Krabbe disease MONDO_0009499 [A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.]
dyskeratosis congenita, autosomal dominant 2 MONDO_0013521 [A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.]
Schinzel-Giedion syndrome MONDO_0010010 [Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.]
Ritscher-Schinzel syndrome 2 MONDO_0010499 [Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.]
Ritscher-Schinzel syndrome MONDO_0019078 [Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.]
PXDN-related ocular dysgenesis MONDO_0010015 [Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.]
sclerocornea MONDO_0019629 [A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.]
xanthinuria type II MONDO_0011346 [Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.]
MEND syndrome MONDO_0010498
sterol biosynthesis disorder MONDO_0019240 [An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.]
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta MONDO_0015703
microphthalmia MONDO_0021129 [Congenital or developmental anomaly in which the eyeballs are abnormally small.]
autosomal recessive osteopetrosis 4 MONDO_0012676 [Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.]
soft tissue neoplasm MONDO_0006424 [A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.]
spinocerebellar ataxia, autosomal recessive 25 MONDO_0033115
autosomal recessive nonsyndromic hearing loss 63 MONDO_0012670 [Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.]
hearing loss, autosomal recessive MONDO_0019588 [Autosomal recessive form of nonsyndromic deafness.]
uveitis MONDO_0020283 [An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.]
uveal disorder MONDO_0002661 [A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.]
gamma-amino butyric acid metabolism disorder MONDO_0000698 [An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.]