Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
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Data syncs range from 3x daily (news) to weekly (trials, FDA). Reports regenerate when data changes.
Showing 8,921-8,940 of 10,888 diseases
MONDO:0000045
Congenital nongoitrous hypothyroidism is an endocrine condition present at birth that affects thyroid hormone production without thyroid enlargement....
MONDO:0024264
Hypothyroidism, congenital, nongoitrous, 2 is a disorder of the endocrine system characterized by congenital thyroid dysfunction resulting from thyroi...
MONDO:0009154
Hypothyroidism, congenital, nongoitrous, 5 is a condition characterized by insufficient thyroid hormone production that is not due to thyroid gland en...
MONDO:0032819
Hypothyroidism, congenital, nongoitrous, 7 is a very rare endocrine condition characterized by impaired thyroid hormone production without enlargement...
MONDO:0026731
Congenital nongoitrous hypothyroidism, type 8 is a condition affecting thyroid function that is evident from birth. Genetic studies have linked this c...
MONDO:0026732
MONDO:0012718
Hypotonia with lactic acidemia and hyperammonemia is a multisystem condition characterized by severe muscle weakness, metabolic abnormalities, and car...
MONDO:0015021
MONDO:0032780
This condition is a complex, multisystem disorder that primarily affects neurological development, musculoskeletal structure, and eye function. It is...
MONDO:0014176
MONDO:0024567
MONDO:0014777
MONDO:0014823
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 is a rare, genetic syndrome characterized by profound intellectual disa...
MONDO:0011669
Hypotonia-cystinuria syndrome is a very rare condition that affects multiple systems, with affected infants presenting with marked low muscle tone, fe...
MONDO:0013539
Hypotonia-failure to thrive-microcephaly syndrome is an extremely rare neurometabolic developmental disorder that primarily affects infants. It is cha...
MONDO:0011549
MONDO:0013650
MONDO:0014027
MONDO:0014384
MONDO:0014390
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