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All terms in MONDO

Label Id Description
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO_0010075
spondyloepimetaphyseal dysplasia with joint laxity MONDO_0019675
brachyolmia type 1, toledo type MONDO_0010074
deafness-oligodontia syndrome MONDO_0009089
nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO_0009099
mucosulfatidosis MONDO_0010088
dextrocardia with unusual facies and microphthalmia MONDO_0009098
severe combined immunodeficiency due to CD70 deficiency MONDO_0034054
Sugarman brachydactyly MONDO_0010087
persistent hyperplastic primary vitreous, autosomal recessive MONDO_0009097
obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia MONDO_0009096
isolated sulfite oxidase deficiency MONDO_0010089
encephalopathy due to sulfite oxidase deficiency MONDO_0019358
dermatoosteolysis, Kirghizian type MONDO_0009095
dermochondrocorneal dystrophy MONDO_0009094
dermatoleukodystrophy MONDO_0009093
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO_0009092
non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO_0009091
familial infantile bilateral striatal necrosis MONDO_0010080
hearing loss, sensorineural, autosomal-mitochondrial type MONDO_0009090