TaoMedAI/RareMedData huggingface dataset:
Gene: PRKAR1A
Phenotype: Emotional lability (HP:0000712)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Agitation (HP:0000713)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Psychosis (HP:0000709)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Young adult onset (HP:0011462)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Hematuria (HP:0000790)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Abnormality of urine homeostasis (HP:0003110)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Neonatal epiphyseal stippling (HP:0005756)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Short nose (HP:0003196)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Euthyroid multinodular goiter (HP:0000866)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Hypertension (HP:0000822)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Hypertension (HP:0000822)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Hypertension (HP:0000822)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Stomatitis (HP:0010280)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Ovarian serous cystadenoma (HP:0012887)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Purpura (HP:0000979)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Petechiae (HP:0000967)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Thin skin (HP:0000963)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Osteopenia (HP:0000938)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Cardiac myxoma (HP:0011672)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Cardiac myxoma (HP:0011672)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Cardiac myxoma (HP:0011672)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Cardiac myxoma (HP:0011672)
Associated disease: MYXOMA, INTRACARDIAC (OMIM:255960)
Gene: PRKAR1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Ductal carcinoma in situ (HP:0030075)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Paranasal sinus neoplasm (HP:0030072)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Kyphosis (HP:0002808)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Pigmented micronodular adrenocortical disease (HP:0001580)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Pigmented micronodular adrenocortical disease (HP:0001580)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Primary hypercortisolism (HP:0001579)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Ascites (HP:0001541)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Enchondroma (HP:0030038)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Growth abnormality (HP:0001507)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Pigmentation of the sclera (HP:0007832)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Fatigue (HP:0012378)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Flat face (HP:0012368)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Micromelia (HP:0002983)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PRKAR1A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Round face (HP:0000311)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Heart murmur (HP:0030148)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Genu varum (HP:0002970)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Pulmonic valve myxoma (HP:0006691)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Pulmonic valve myxoma (HP:0006691)
Associated disease: MYXOMA, INTRACARDIAC (OMIM:255960)
Gene: PRKAR1A
Phenotype: Bacterial endocarditis (HP:0006689)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Bacterial endocarditis (HP:0006689)
Associated disease: MYXOMA, INTRACARDIAC (OMIM:255960)
Gene: PRKAR1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Strabismus (HP:0000486)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)