TaoMedAI/RareMedData huggingface dataset:
Gene: GNAQ
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Blindness (HP:0000618)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Mydriasis (HP:0011499)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Photopsia (HP:0030786)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Iris melanoma (HP:0011524)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Abnormal visual accommodation (HP:0030800)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Facial capillary hemangioma (HP:0000996)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Edema (HP:0000969)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Macrocephaly (HP:0000256)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Hemianopia (HP:0012377)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Choroidal hemangioma (HP:0007872)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Choroidal hemangioma (HP:0007872)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Strabismus (HP:0000486)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Glaucoma (HP:0000501)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Glaucoma (HP:0000501)
Associated disease: Familial multiple port-wine stains; Familial multiple nevi flammei (ORPHA:624)
Gene: GNAQ
Phenotype: Buphthalmos (HP:0000557)
Associated disease: STURGE-WEBER SYNDROME (OMIM:185300)
Gene: GNAQ
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Visual loss (HP:0000572)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Visual loss (HP:0000572)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAQ
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Sturge-Weber syndrome; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; Encephalofacial angiomatosis; Sturge-Weber-Dimitri syndrome (ORPHA:3205)
Gene: GNAQ
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: GNAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Sporadic (HP:0003745)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Sporadic (HP:0003745)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Calcinosis (HP:0003761)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Calcinosis (HP:0003761)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Calcinosis (HP:0003761)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Proximal muscle weakness (HP:0003701)
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: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Mental deterioration (HP:0001268)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Confusion (HP:0001289)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Confusion (HP:0001289)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Seizure (HP:0001250)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Seizure (HP:0001250)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AHO-PPHP syndrome; Pseudopseudohypoparathyroidism; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Gene: GNAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Polyphagia (HP:0002591)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Polyphagia (HP:0002591)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Pancreatic intraductal papillary mucinous neoplasm (HP:6000657)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Abnormal sexual behavior (HP:0008768)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Abnormal endocrine physiology (HP:0031072)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Abnormal response to corticotropin releasing hormone stimulation test (HP:0031077)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Ankylosis (HP:0031013)
Associated disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Gene: GNAS
Phenotype: Dorsocervical fat pad (HP:0025383)
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: Aneurysmal bone cyst (HP:0012063)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Hepatic steatosis (HP:0001397)
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: Cholestasis (HP:0001396)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Gene: GNAS
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Familial ectopic ossification; POH; Progressive osseous heteroplasia (ORPHA:2762)
Gene: GNAS
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Increased urinary cortisol level (HP:0012030)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Macroorchidism (HP:0000053)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Pseudohypoparathyroidism type 1A; Albright hereditary osteodystrophy-PHP syndrome Ia; AHO-PHP syndrome Ia (ORPHA:79443)
Gene: GNAS
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Abnormal skull base morphology (HP:0002693)
Associated disease: McCune-Albright syndrome (ORPHA:562)
Gene: GNAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Cortical subperiosteal resorption of humeral metaphyses (HP:0003909)
Associated disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Gene: GNAS
Phenotype: Neoplasm (HP:0002664)
Associated disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Gene: GNAS
Phenotype: Increased susceptibility to fractures (HP:0002659)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Gene: GNAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Gene: GNAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Gene: GNAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Gene: GNAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Gene: GNAS
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Mazabraud syndrome; Myxoma with fibrous dysplasia (ORPHA:57782)
Gene: GNAS
Phenotype: Bone pain (HP:0002653)
Associated disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Gene: GNAS
Phenotype: Bone pain (HP:0002653)
Associated disease: McCune-Albright syndrome (ORPHA:562)