All terms in MONDO_CLINGEN

Label Id Description
coagulation protein disease MONDO_0002242 [Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.]
hemorrhagic disease MONDO_0002243 [Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).]
retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO_0100155 [An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.]
syndromic disease MONDO_0002254 [A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.]
Hermansky-Pudlak syndrome 9 MONDO_0013606 [Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.]
Hermansky-Pudlak syndrome MONDO_0019312 [Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.]
hereditary hemophagocytic lymphohistiocytosis MONDO_0015541 [An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.]
nervous system neoplasm MONDO_0021248 [A neoplasm (disease) that involves the nervous system.]
neoplasm MONDO_0005070 [A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.]
ZTTK syndrome MONDO_0014936
multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO_0015159
hereditary disease MONDO_0003847 [A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.]
CHRNG-associated hypo-akinesia disorder of prenatal onset MONDO_0100158 [A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.]
multiple pterygium syndrome MONDO_0017415
autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO_0008264 [A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).]
familial cystic renal disease MONDO_0019741 [An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.]
autosomal dominant disease MONDO_0000426 [Autosomal dominant form of disease.]
polycystic liver disease 1 MONDO_0008265 [A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.]
autosomal dominant polycystic liver disease MONDO_0000447 [An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.]
cartilage-hair hypoplasia MONDO_0009595 [Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.]