All diseases

10 entries on 1 page. Showing entries 1 - 10.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01043 - bleeding time, prolonged, brachydactyly and mental retardation - - - - GNAS - -
00228 AIMAH-1 hyperplasia, adrenal, ACTH-independent, macronodular, type 1 (AIMAH-1) 219080 - - - GNAS - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
00227 MAS;POFD McCune-Albright syndrome (MAS, polyostotic fibrous dysplasia (POFD)) 174800 - - - GNAS - -
01044 PAGH-1 adenoma, pituitary, growth hormone-secreting, type 1 (PAGH-1, acromegaly) 102200 - - - AIP, GNAS, SSTR5 - -
00223 PHP-1A pseudohypoparathyroidism, type Ia (PHP-1A, Albright hereditary osteodystrophy (AHO)) 103580 - - - GNAS - -
00222 PHP-1B pseudohypoparathyroidism, type Ib (PHP-1B) 603233 - - - GNAS, GNAS-AS1, STX16 - -
00224 PHP-1C pseudohypoparathyroidism, type Ic (PHP-1C) 612462 - - - GNAS - -
00226 POH heteroplasia, osseous, progressive (POH) 166350 - - - GNAS - -
00225 PPHP pseudopseudohypoparathyroidism (PPHP) 612463 - - - GNAS - -
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