TaoMedAI/RareMedData huggingface dataset:
Gene: GNAS
Phenotype: Bone pain (HP:0002653)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Bone pain (HP:0002653)
Associated disease: Mazabraud syndrome; Myxoma with fibrous dysplasia (ORPHA:57782)
Gene: GNAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Acral overgrowth (HP:0033794)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Acral overgrowth (HP:0033794)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Sclerotic ilium (HP:6000869)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Decreased fertility (HP:0000144)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Hypogonadism (HP:0000135)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Hypogonadism (HP:0000135)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Hepatitis (HP:0012115)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Moon facies (HP:0500011)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Mazabraud syndrome; Myxoma with fibrous dysplasia (ORPHA:57782)
Gene: GNAS
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Osteomalacia (HP:0002749)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Dyspnea (HP:0002094)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Dyspnea (HP:0002094)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Dyspnea (HP:0002094)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Low urinary cyclic AMP response to PTH administration (HP:0003456)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Macronodular adrenal hyperplasia (HP:0008231)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Macronodular adrenal hyperplasia (HP:0008231)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Pituitary resistance to thyroid hormone (HP:0008227)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Pituitary resistance to thyroid hormone (HP:0008227)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Pituitary resistance to thyroid hormone (HP:0008227)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Abnormal facial skeleton morphology (HP:0011821)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Paresthesia (HP:0003401)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Paresthesia (HP:0003401)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Paresthesia (HP:0003401)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Paresthesia (HP:0003401)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Pituitary corticotropic cell adenoma (HP:0008291)
Associated disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Gene: GNAS
Phenotype: Infantile onset (HP:0003593)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Gene: GNAS
Phenotype: Adult onset (HP:0003581)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Chest pain (HP:0100749)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Chest pain (HP:0100749)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Chest pain (HP:0100749)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Mania (HP:0100754)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Ectopic ossification (HP:0011986)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Ectopic ossification (HP:0011986)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Ectopic ossification (HP:0011986)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Ectopic ossification in muscle tissue (HP:0011987)
Associated disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Gene: GNAS
Phenotype: Ectopic ossification in muscle tissue (HP:0011987)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Broad distal phalanx of the thumb (HP:0009642)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Broad distal phalanx of the thumb (HP:0009642)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Osteoma cutis (HP:0025027)
Associated disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Gene: GNAS
Phenotype: Osteoma cutis (HP:0025027)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Osteoma cutis (HP:0025027)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Osteoma cutis (HP:0025027)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Plethora (HP:0001050)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Striae distensae (HP:0001065)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Striae distensae (HP:0001065)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Acne (HP:0001061)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Progressive (HP:0003676)
Associated disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Gene: GNAS
Phenotype: Hirsutism (HP:0001007)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Memory impairment (HP:0002354)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Papule (HP:0200034)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Gene: GNAS
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Neuroendocrine neoplasm (HP:0100634)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Bone fracture (HP:0020110)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Hyperplasia of the Leydig cells (HP:0010791)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)
Gene: GNAS
Phenotype: Short metatarsal (HP:0010743)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Short metatarsal (HP:0010743)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Short metatarsal (HP:0010743)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Short metatarsal (HP:0010743)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Monostotic fibrous dysplasia (HP:0010736)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Polyostotic fibrous dysplasia (HP:0010735)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Polyostotic fibrous dysplasia (HP:0010735)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Fibrous dysplasia of the bones (HP:0010734)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Fibrous dysplasia of the bones (HP:0010734)
Associated disease: Mazabraud syndrome; Myxoma with fibrous dysplasia (ORPHA:57782)
Gene: GNAS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Gene: GNAS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Cushing syndrome due to BMAD; CS due to BMACD; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMAD; Cushing syndrome due to BMACD (ORPHA:189427)