All terms in MONDO_CLINGEN

Label Id Description
hypercholesterolemia, autosomal dominant, 3 MONDO_0011369 [Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.]
familial hypercholesterolemia MONDO_0005439 [An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.]
dermatitis MONDO_0002406 [An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.]
myopathy, myofibrillar, 9, with early respiratory failure MONDO_0011362
autosomal dominant distal myopathy MONDO_0016108 [Autosomal dominant form of distal myopathy.]
progressive muscular dystrophy MONDO_0016106
hereditary inclusion-body myopathy MONDO_0016112
hypercalcemia disease MONDO_0001566 [Abnormally high concentration of calcium in the peripheral blood.]
MED12-related intellectual disability syndrome MONDO_0100000 [An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.]
TSPAN12-related vitreoretinopathy MONDO_0100484 [A vitreoretinopathy caused by variants in the TSPAN12 gene.]
inherited vitreoretinopathy MONDO_0020246
KCNH1 associated disorder MONDO_0100485 [Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.]
TPM4-related platelet disorder MONDO_0100487 [A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.]
blood platelet disease MONDO_0002245 [Disorders caused by abnormalities in platelet count or function.]
Fraser syndrome MONDO_0009046 [Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.]
cryptophthalmia MONDO_0020153 [A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.]
FLVCR1 retinopathy with or without ataxia MONDO_0100449 [A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.]
autosomal recessive degenerative and progressive cerebellar ataxia MONDO_0020046
hypercholesterolemia, familial, 4 MONDO_0011374 [An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.]
hyperlipoproteinemia MONDO_0037748 [An elevated concentration of lipoproteins.]