/severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Rare Disease

MONDO:0017994

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inherited bleeding disorder, platelet-type

MONDO:0000009

infantile liver failure

MONDO:0000023

febrile seizures, familial

MONDO:0000032

hereditary hypophosphatemic rickets

MONDO:0000044

hypothyroidism, congenital, nongoitrous

MONDO:0000045

isolated microphthalmia

MONDO:0000062