domingo, 6 de enero de 2019

Rare diseases - OMIM - NCBI

Rare diseases - OMIM - NCBI

rare diseases with DNA

From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.





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LEAD POISONING, SUSCEPTIBILITY TO, INCLUDED
Cytogenetic locations: 9q32
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NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED; XIPAN, INCLUDED
Cytogenetic locations: Xq26.2
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TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED
Cytogenetic locations: 1pter-p36.13, 12q15
20.
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED; ALS13, INCLUDED
Cytogenetic locations: 12q24.12

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