TaoMedAI/RareMedData huggingface dataset:
Gene: PRKAR1A
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Acral overgrowth (HP:0033794)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Tongue nodules (HP:0000199)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Open mouth (HP:0000194)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Testicular adrenal rest tumor (HP:0025451)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Elevated serum 11-deoxycortisol (HP:0025436)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Hypogonadism (HP:0000135)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Freckling (HP:0001480)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Moon facies (HP:0500011)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
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: Decreased circulating dehydroepiandrosterone concentration (HP:0031214)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Productive cough (HP:0031245)
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: Lymphadenopathy (HP:0002716)
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: Abdominal pain (HP:0002027)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Abdominal pain (HP:0002027)
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: Frontal bossing (HP:0002007)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Addictive alcohol use (HP:0030955)
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: Anorexia (HP:0002039)
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: Easy fatigability (HP:0003388)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Hypofibrinogenemia (HP:0011900)
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: Thyroid follicular hyperplasia (HP:0008225)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Abnormal hard palate morphology (HP:0100737)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Red hair (HP:0002297)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Gangrene (HP:0100758)
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: Epiphyseal stippling (HP:0010655)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Striae distensae (HP:0001065)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Striae distensae (HP:0001065)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Striae distensae (HP:0001065)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Hirsutism (HP:0001007)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Hirsutism (HP:0001007)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Vertigo (HP:0002321)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Open bite (HP:0010807)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Metrorrhagia (HP:0100608)
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: Sertoli cell neoplasm (HP:0100619)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Leydig cell neoplasia (HP:0100618)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Atypical nevi in non-sun exposed areas (HP:0001074)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Neoplasm of the pharynx (HP:0100638)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Gonadal neoplasm (HP:0010785)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Pedal edema (HP:0010741)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Short metatarsal (HP:0010743)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Nodular changes affecting the eyelids (HP:0010732)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Disseminated intravascular coagulation (HP:0005521)
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: Short palm (HP:0004279)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Profuse pigmented skin lesions (HP:0005587)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Blue irides (HP:0000635)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Palpitations (HP:0001962)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Increased total leukocyte count (HP:0001974)
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: Fever (HP:0001945)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Fever (HP:0001945)
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: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial myxoma (ORPHA:615)
Gene: PRKAR1A
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Anemia (HP:0001903)
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: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Increased body weight (HP:0004324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Increased body weight (HP:0004324)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Short stature (HP:0004322)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Short stature (HP:0004322)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Gene: PRKAR1A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PRKAR1A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Arkless-Graham syndrome; Maroteaux-Malamut syndrome; Acrodysplasia (ORPHA:950)
Gene: PRKAR1A
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Schwannoma (HP:0100008)
Associated disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Gene: PRKAR1A
Phenotype: Schwannoma (HP:0100008)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PRKAR1A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Irritability (HP:0000737)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Anxiety (HP:0000739)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Gene: PRKAR1A
Phenotype: Anxiety (HP:0000739)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: PRKAR1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PRKAR1A
Phenotype: Depression (HP:0000716)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)