All terms in MONDO_CLINGEN

Label Id Description
congenital disorder of glycosylation type II MONDO_0005501 [A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.]
defect in conserved oligomeric Golgi complex MONDO_0017750
patterned dystrophy of the retinal pigment epithelium MONDO_0018973
immunodeficiency, common variable, 6 MONDO_0013286 [Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.]
agammaglobulinemia 2, autosomal recessive MONDO_0013287 [Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.]
papillary epithelial neoplasm MONDO_0021096
carcinoma MONDO_0004993 [A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.]
immunodeficiency, common variable, 4 MONDO_0013284
immunodeficiency, common variable, 5 MONDO_0013285 [Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.]
retinal cell cancer MONDO_0004338
retinal cancer MONDO_0003072 [A malignant neoplasm involving the retina.]
KBG syndrome MONDO_0007846 [KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.]
tooth disorder MONDO_0006999 [A disease involving the calcareous tooth.]
mouth disorder MONDO_0006858 [A disease involving the mouth.]
macular degeneration MONDO_0003004 [Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.]
retinal degeneration MONDO_0004580 [Degeneration of the retina.]
Kabuki syndrome 1 MONDO_0007843
Kabuki syndrome MONDO_0016512 [Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.]
renal tubular transport disease MONDO_0006510 [Genetic defects in the selective or non-selective transport functions of the kidney tubules.]
NTHL1-deficiency tumor predisposition syndrome MONDO_0100502 [Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.]