All terms in MONDO_CLINGEN

Label Id Description
immunodeficiency 11b with atopic dermatitis MONDO_0054697
autosomal recessive congenital ichthyosis MONDO_0017265 [Autosomal recessive form of inherited ichthyosis.]
inherited ichthyosis MONDO_0015947 [Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.]
immunodeficiency 53 MONDO_0054696
protoporphyria, erythropoietic, 1 MONDO_0008319 [Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.]
autosomal erythropoietic protoporphyria MONDO_0019263 [Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.]
OPA1-related optic atrophy with or without extraocular features MONDO_0800181 [Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.]
hereditary optic neuropathy MONDO_0020249
TEK-related primary glaucoma MONDO_0800182 [Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.]
hereditary glaucoma MONDO_0018174 [Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.]
hyper-IgM syndrome type 1 MONDO_0010626 [The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.]
hyper-IgM syndrome MONDO_0003947 [A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.]
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO_0009644
sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO_0020480
CPOX-related hereditary coproporphyria MONDO_0800180 [Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.]
oculoauricular syndrome MONDO_0012802 [Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).]
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO_0009643
aniridia-cerebellar ataxia-intellectual disability syndrome MONDO_0008795 [Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.]
iridogoniodysgenesis MONDO_0011119
PAX6-related ocular dysgenesis MONDO_0800183 [Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.]