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DEAF1-associated disorders From NCATS Genetic and Rare Diseases Information Center
Hemochromatosis type 5 From NCATS Genetic and Rare Diseases Information Center
Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related From NCATS Genetic and Rare Diseases Information Center
Jackhammer esophagus From NCATS Genetic and Rare Diseases Information Center
Papular epidermal nevi with skyline basal cell layers syndrome From NCATS Genetic and Rare Diseases Information Center
Plasmacytoma From NCATS Genetic and Rare Diseases Information Center
Neuroendocrine tumor From NCATS Genetic and Rare Diseases Information Center
Bain type of X-linked syndromic intellectual disability From NCATS Genetic and Rare Diseases Information Center
Congenital Zika syndrome From NCATS Genetic and Rare Diseases Information Center
Temple syndrome From NCATS Genetic and Rare Diseases Information Center
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome From NCATS Genetic and Rare Diseases Information Center
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome From NCATS Genetic and Rare Diseases Information Center
Rahman syndrome From NCATS Genetic and Rare Diseases Information Center
Limbic encephalitis with LGI1 antibodies From NCATS Genetic and Rare Diseases Information Center
Papillary glioneuronal tumors From NCATS Genetic and Rare Diseases Information Center
16p13.11 microduplication syndrome From NCATS Genetic and Rare Diseases Information Center
2p15p16.1 microdeletion syndrome From NCATS Genetic and Rare Diseases Information Center
12q14 microdeletion syndrome From NCATS Genetic and Rare Diseases Information Center
Congenital generalized lipodystrophy type 3 From NCATS Genetic and Rare Diseases Information Center
Hepatopulmonary syndrome From NCATS Genetic and Rare Diseases Information Center
Leukoencephalopathy with thalamus and brainstem involvement and high lactate From NCATS Genetic and Rare Diseases Information Center
SETBP1 disorder From NCATS Genetic and Rare Diseases Information Center
GNAO1 encephalopathy From NCATS Genetic and Rare Diseases Information Center
Multiple epiphyseal dysplasia 6 From NCATS Genetic and Rare Diseases Information Center
GATA2 deficiency From NCATS Genetic and Rare Diseases Information Center
MAGIC syndrome From NCATS Genetic and Rare Diseases Information Center
Autosomal recessive intellectual disability 58 From NCATS Genetic and Rare Diseases Information Center
SCN2A related disorders From NCATS Genetic and Rare Diseases Information Center
Morning glory syndrome From NCATS Genetic and Rare Diseases Information Center
Culler-Jones syndrome From NCATS Genetic and Rare Diseases Information Center
BENTA disease From NCATS Genetic and Rare Diseases Information Center
Niemann-Pick disease From NCATS Genetic and Rare Diseases Information Center
Familial reactive perforating collagenosis From NCATS Genetic and Rare Diseases Information Center
Condrodisplasia punctata rizomélica From NCATS Genetic and Rare Diseases Information Center
Early Infantile Epileptic Encephalopathy 12 From NCATS Genetic and Rare Diseases Information Center
Schaaf-Yang syndrome From NCATS Genetic and Rare Diseases Information Center
Necrotizing autoimmune myopathy From NCATS Genetic and Rare Diseases Information Center
DEPDC5-Related Epilepsy From NCATS Genetic and Rare Diseases Information Center
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome From NCATS Genetic and Rare Diseases Information Center
17q12 deletion syndrome From NCATS Genetic and Rare Diseases Information Center
17q12 duplication From NCATS Genetic and Rare Diseases Information Center
Familial focal epilepsy with variable foci From NCATS Genetic and Rare Diseases Information Center
Ankyrin-B syndrome From NCATS Genetic and Rare Diseases Information Center
Glycoprotein VI deficiency From NCATS Genetic and Rare Diseases Information Center
HaNDL syndrome From NCATS Genetic and Rare Diseases Information Center
Phosphoserine aminotransferase deficiency From NCATS Genetic and Rare Diseases Information Center
Extranodal nasal NK/T cell lymphoma From NCATS Genetic and Rare Diseases Information Center
Infantile cerebellar retinal degeneration From NCATS Genetic and Rare Diseases Information Center
Idiopathic hypertrophic pachymeningitis From NCATS Genetic and Rare Diseases Information Center
Skeletal-extraskeletal angiomatosis From NCATS Genetic and Rare Diseases Information Center
Cabezas syndrome From NCATS Genetic and Rare Diseases Information Center
Extracardiac Rhabdomyoma From NCATS Genetic and Rare Diseases Information Center
Marginal zone lymphoma From NCATS Genetic and Rare Diseases Information Center
Syndromic microphthalmia-12 From NCATS Genetic and Rare Diseases Information Center
Acute necrotizing encephalopathy From NCATS Genetic and Rare Diseases Information Center
Infection-induced acute encephalopathy 3 From NCATS Genetic and Rare Diseases Information Center
Primary bone cancer From NCATS Genetic and Rare Diseases Information Center
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 From NCATS Genetic and Rare Diseases Information Center
IQSEC2 From NCATS Genetic and Rare Diseases Information Center
Lethal congenital contracture syndrome 11 From NCATS Genetic and Rare Diseases Information Center
BAP1 tumor predisposition syndrome From NCATS Genetic and Rare Diseases Information Center
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis From NCATS Genetic and Rare Diseases Information Center
Renal cell carcinoma From NCATS Genetic and Rare Diseases Information Center
Pituitary stalk interruption syndrome From NCATS Genetic and Rare Diseases Information Center
Hypertrophic olivary degeneration From NCATS Genetic and Rare Diseases Information Center
SATB2-associated syndrome From NCATS Genetic and Rare Diseases Information Center
HIBCH deficiency From NCATS Genetic and Rare Diseases Information Center
Carbonic anhydrase VA deficiency From NCATS Genetic and Rare Diseases Information Center
RRM2B-related mitochondrial DNA depletion syndrome From NCATS Genetic and Rare Diseases Information Center
RNAse T2-deficient leukoencephalopathy From NCATS Genetic and Rare Diseases Information Center
Otulipenia From NCATS Genetic and Rare Diseases Information Center
CHD2 myoclonic encephalopathy From NCATS Genetic and Rare Diseases Information Center
Xanthoma disseminatum From NCATS Genetic and Rare Diseases Information Center
HIVEP2-related intellectual disability From NCATS Genetic and Rare Diseases Information Center
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency From NCATS Genetic and Rare Diseases Information Center
Renal medullary carcinoma From NCATS Genetic and Rare Diseases Information Center
Xp22.3 microdeletion syndrome From NCATS Genetic and Rare Diseases Information Center
Rhizomelic chondrodysplasia punctata From NCATS Genetic and Rare Diseases Information Center
Acute flaccid myelitis From NCATS Genetic and Rare Diseases Information Center
Methylmalonic acidemia and homocysteinemia type cblX From NCATS Genetic and Rare Diseases Information Center
Autosomal dominant intellectual disability 30 From NCATS Genetic and Rare Diseases Information Center
Hematohidrosis From NCATS Genetic and Rare Diseases Information Center
Chronic thromboembolic pulmonary hypertension From NCATS Genetic and Rare Diseases Information Center
Granulomatous lobular mastitis From NCATS Genetic and Rare Diseases Information Center
Infantile liver failure syndrome 1 From NCATS Genetic and Rare Diseases Information Center
Infantile liver failure syndrome 2 From NCATS Genetic and Rare Diseases Information Center
Ataxia-oculomotor apraxia-3 From NCATS Genetic and Rare Diseases Information Center
Ataxia-oculomotor apraxia type 4 From NCATS Genetic and Rare Diseases Information Center
Progressive encephalomyelitis with rigidity and myoclonus From NCATS Genetic and Rare Diseases Information Center
MIRAGE syndrome From NCATS Genetic and Rare Diseases Information Center
Adenosquamous carcinoma of the endometrium From NCATS Genetic and Rare Diseases Information Center
Dent disease From NCATS Genetic and Rare Diseases Information Center
Fibro-adipose vascular anomaly From NCATS Genetic and Rare Diseases Information Center
Adult T-cell leukemia/lymphoma From NCATS Genetic and Rare Diseases Information Center
Corticosteroid-binding globulin deficiency From NCATS Genetic and Rare Diseases Information Center
OPHN1 syndrome From NCATS Genetic and Rare Diseases Information Center
Small Intestinal Adenocarcinoma From NCATS Genetic and Rare Diseases Information Center
Pediatric acute-onset neuropsychiatric syndrome From NCATS Genetic and Rare Diseases Information Center
SCN8A encephalopathy From NCATS Genetic and Rare Diseases Information Center
Telangiectasia macularis eruptive perstans From NCATS Genetic and Rare Diseases Information Center