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1 | What is (are) hystrix-like ichthyosis with deafness ? |
1 | What is (are) ichthyosis with confetti ? |
1 | What is (are) idiopathic inflammatory myopathy ? |
1 | What is (are) idiopathic pulmonary fibrosis ? |
1 | What is (are) Imerslund-Grsbeck syndrome ? |
1 | What is (are) immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ? |
1 | What is (are) inclusion body myopathy 2 ? |
1 | What is (are) inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? |
1 | What is (are) incontinentia pigmenti ? |
1 | What is (are) infantile neuroaxonal dystrophy ? |
1 | What is (are) infantile neuronal ceroid lipofuscinosis ? |
1 | What is (are) infantile systemic hyalinosis ? |
1 | What is (are) infantile-onset ascending hereditary spastic paralysis ? |
1 | What is (are) infantile-onset spinocerebellar ataxia ? |
1 | What is (are) inherited thyroxine-binding globulin deficiency ? |
1 | What is (are) intestinal pseudo-obstruction ? |
1 | What is (are) intrahepatic cholestasis of pregnancy ? |
1 | What is (are) intranuclear rod myopathy ? |
1 | What is (are) intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? |
1 | What is (are) IRAK-4 deficiency ? |
1 | What is (are) iron-refractory iron deficiency anemia ? |
1 | What is (are) isobutyryl-CoA dehydrogenase deficiency ? |
1 | What is (are) isodicentric chromosome 15 syndrome ? |
1 | What is (are) isolated Duane retraction syndrome ? |
1 | What is (are) isolated ectopia lentis ? |
1 | What is (are) isolated growth hormone deficiency ? |
1 | What is (are) isolated lissencephaly sequence ? |
1 | What is (are) isolated Pierre Robin sequence ? |
1 | What is (are) isovaleric acidemia ? |
1 | What is (are) Jackson-Weiss syndrome ? |
1 | What is (are) Jacobsen syndrome ? |
1 | What is (are) Jervell and Lange-Nielsen syndrome ? |
1 | What is (are) Joubert syndrome ? |
1 | What is (are) junctional epidermolysis bullosa ? |
1 | What is (are) juvenile Batten disease ? |
1 | What is (are) juvenile hyaline fibromatosis ? |
1 | What is (are) juvenile idiopathic arthritis ? |
1 | What is (are) juvenile myoclonic epilepsy ? |
1 | What is (are) juvenile Paget disease ? |
1 | What is (are) juvenile polyposis syndrome ? |
1 | What is (are) juvenile primary lateral sclerosis ? |
1 | What is (are) juvenile primary osteoporosis ? |
1 | What is (are) Kabuki syndrome ? |
1 | What is (are) Kallmann syndrome ? |
1 | What is (are) Kawasaki disease ? |
1 | What is (are) KBG syndrome ? |
1 | What is (are) Kearns-Sayre syndrome ? |
1 | What is (are) keratitis-ichthyosis-deafness syndrome ? |
1 | What is (are) keratoderma with woolly hair ? |
1 | What is (are) Kleefstra syndrome ? |
1 | What is (are) Klinefelter syndrome ? |
1 | What is (are) Klippel-Feil syndrome ? |
1 | What is (are) Klippel-Trenaunay syndrome ? |
1 | What is (are) Kniest dysplasia ? |
1 | What is (are) Knobloch syndrome ? |
1 | What is (are) Koolen-de Vries syndrome ? |
1 | What is (are) Krabbe disease ? |
1 | What is (are) Kufs disease ? |
1 | What is (are) Kuskokwim syndrome ? |
1 | What is (are) L1 syndrome ? |
1 | What is (are) lacrimo-auriculo-dento-digital syndrome ? |
1 | What is (are) lactate dehydrogenase deficiency ? |
1 | What is (are) lactose intolerance ? |
1 | What is (are) Lafora progressive myoclonus epilepsy ? |
1 | What is (are) Laing distal myopathy ? |
1 | What is (are) LAMA2-related muscular dystrophy ? |
1 | What is (are) lamellar ichthyosis ? |
1 | What is (are) Langer mesomelic dysplasia ? |
1 | What is (are) Langer-Giedion syndrome ? |
1 | What is (are) Langerhans cell histiocytosis ? |
1 | What is (are) Laron syndrome ? |
1 | What is (are) Larsen syndrome ? |
1 | What is (are) laryngo-onycho-cutaneous syndrome ? |
1 | What is (are) late-infantile neuronal ceroid lipofuscinosis ? |
1 | What is (are) lattice corneal dystrophy type I ? |
1 | What is (are) lattice corneal dystrophy type II ? |
1 | What is (are) Leber congenital amaurosis ? |
1 | What is (are) Leber hereditary optic neuropathy ? |
1 | What is (are) Legg-Calv-Perthes disease ? |
1 | What is (are) Legius syndrome ? |
1 | What is (are) Leigh syndrome ? |
1 | What is (are) Lennox-Gastaut syndrome ? |
1 | What is (are) Lenz microphthalmia syndrome ? |
1 | What is (are) leptin receptor deficiency ? |
1 | What is (are) Lesch-Nyhan syndrome ? |
1 | What is (are) leukocyte adhesion deficiency type 1 ? |
1 | What is (are) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? |
1 | What is (are) leukoencephalopathy with vanishing white matter ? |
1 | What is (are) Leydig cell hypoplasia ? |
1 | What is (are) Li-Fraumeni syndrome ? |
1 | What is (are) Liddle syndrome ? |
1 | What is (are) limb-girdle muscular dystrophy ? |
1 | What is (are) lissencephaly with cerebellar hypoplasia ? |
1 | What is (are) Loeys-Dietz syndrome ? |
1 | What is (are) long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? |
1 | What is (are) Lowe syndrome ? |
1 | What is (are) Lujan syndrome ? |
1 | What is (are) lung cancer ? |
1 | What is (are) lymphangioleiomyomatosis ? |
1 | What is (are) lymphedema-distichiasis syndrome ? |
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