All terms in MONDO_CLINGEN

Label Id Description
skeletal system disorder MONDO_0005172 [A disease involving the skeletal system.]
immuno-osseous dysplasia MONDO_0015708
autosomal recessive disease MONDO_0006025 [Autosomal recessive form of disease.]
ectodermal dysplasia syndrome MONDO_0019287 [The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.]
NMNAT1-related retinopathy MONDO_0800101 [A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.]
inherited retinal dystrophy MONDO_0019118 [An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.]
CNGA3-related retinopathy MONDO_0800102 [A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.]
hereditary spastic paraplegia 11 MONDO_0011445 [Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.]
complex hereditary spastic paraplegia MONDO_0015150 [A hereditary spastic paraplegia that is part of a larger syndrome.]
autosomal dominant non-syndromic intellectual disability MONDO_0015802 [Autosomal dominant form of non-syndromic intellectual disability.]
non-syndromic intellectual disability MONDO_0000509 [An intellectual disability that is not part of a larger syndrome.]
RCBTB1-related retinopathy MONDO_0014955
reticular dystrophy of the retinal pigment epithelium MONDO_0009979 [Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.]
thrombocytopenia 4 MONDO_0012775 [Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.]
inherited thrombocytopenia MONDO_0100241 [An instance of thrombocytopenia that is inherited.]
adrenal gland neoplasm MONDO_0021227 [A neoplasm (disease) that involves the adrenal gland.]
endocrine gland neoplasm MONDO_0002082 [A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.]
adrenal gland disorder MONDO_0005495 [A disease involving the adrenal gland.]
platelet-type bleeding disorder 11 MONDO_0013623 [Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.]
inherited bleeding disorder, platelet-type MONDO_0000009