All terms in MONDO_CLINGEN

Label Id Description
focal palmoplantar keratoderma MONDO_0017672
tyrosinemia type III MONDO_0010162 [Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.]
primary congenital glaucoma MONDO_0000365 [Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.]
congenital glaucoma MONDO_0020366 [A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.]
recessive dystrophic epidermolysis bullosa MONDO_0009179 [Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.]
epidermolysis bullosa dystrophica MONDO_0006543 [A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.]
Waardenburg syndrome type 4C MONDO_0013202 [A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.]
Waardenburg-Shah syndrome MONDO_0019518 [Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.]
hereditary mixed polyposis syndrome MONDO_0011023 [Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.]
amelocerebrohypohidrotic syndrome MONDO_0009185 [Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.]
Waardenburg syndrome type 4B MONDO_0013201 [A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.]
platelet-type bleeding disorder 8 MONDO_0012354 [P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.]
amyotrophic lateral sclerosis type 22 MONDO_0014531 [Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.]
thrombocytopenia 5 MONDO_0014536 [Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.]
hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO_0011071 [The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.]
alpha-methylacyl-CoA racemase deficiency MONDO_0013681 [A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.]
disorder of glycosylation MONDO_0024322 [A disease that has its basis in the disruption of glycosylation.]
metabolic disease MONDO_0005066 [A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.]
respiratory system cancer MONDO_0000376 [A malignant neoplasm involving the respiratory system]
respiratory system disorder MONDO_0005087 [A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.]