All terms in MONDO_CLINGEN

Label Id Description
combined immunodeficiency due to ZAP70 deficiency MONDO_0010023 [Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.]
SHORT syndrome MONDO_0010026 [SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.]
hereditary lipodystrophy MONDO_0020087 [An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.]
Czech dysplasia, metatarsal type MONDO_0012206 [Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterized by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.]
Charcot-Marie-Tooth disease axonal type 2T MONDO_0014866 [A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.]
hemolytic-uremic syndrome MONDO_0001549 [Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.]
polycystic liver disease 2 MONDO_0014860 [Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.]
nephronophthisis 7 MONDO_0012680 [Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.]
kidney neoplasm MONDO_0021163 [A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.]
urinary system neoplasm MONDO_0021066 [A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003]
bile duct disorder MONDO_0002887 [A disease involving the bile duct.]
biliary tract disorder MONDO_0004868 [A disease involving the biliary tree.]
mineral metabolism disease MONDO_0000226
lissencephaly spectrum disorder with complex brainstem malformation MONDO_0100472 [A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).]
autosomal recessive centronuclear myopathy MONDO_0015705 [Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.]
brain malformations with or without urinary tract defects MONDO_0100478 [A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.]
Smith-Lemli-Opitz syndrome MONDO_0010035 [Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.]
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO_0012216
foveal hypoplasia MONDO_0044203 [Underdevelopment of the fovea centralis.]
acetyl-CoA acetyltransferase-2 deficiency MONDO_0013548