TaoMedAI/RareMedData huggingface dataset:
Gene: PDGFB
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFB
Phenotype: Mask-like facies (HP:0000298)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFB
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Meningioma (HP:0002858)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: PDGFB
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: PDGFB
Phenotype: Pain (HP:0012531)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: PDGFRA
Phenotype: Sporadic (HP:0003745)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Neoplasm of the small intestine (HP:0100833)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Intussusception (HP:0002576)
Associated disease: GIST-PLUS SYNDROME (OMIM:175510)
Gene: PDGFRA
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GIST-PLUS SYNDROME (OMIM:175510)
Gene: PDGFRA
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Constipation (HP:0002019)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Myalgia (HP:0003326)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Dysphagia (HP:0002015)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: GIST-PLUS SYNDROME (OMIM:175510)
Gene: PDGFRA
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: GIST-PLUS SYNDROME (OMIM:175510)
Gene: PDGFRA
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Anemia (HP:0001903)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Pruritus (HP:0000989)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Skin rash (HP:0000988)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Sarcoma (HP:0100242)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Fatigue (HP:0012378)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Endocardial fibrosis (HP:0006685)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: PDGFRA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRA
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: PDGFRA
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Gene: PDGFRL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PDGFRL
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PDGFRL
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: PDGFRL
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: PDGFRL
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: PDGFRL
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PDGFRL
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PDGFRL
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: PDGFRL
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PDGFRL
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PDGFRL
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PDE6B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Gene: PDE6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 (OMIM:163500)
Gene: PDE6B
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 (OMIM:163500)
Gene: PDE6B
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 (OMIM:163500)
Gene: PDE6B
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Gene: PDE6B
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 (OMIM:163500)
Gene: PDE6B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Gene: PDE6B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Gene: PDE6B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Gene: PDE6B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Gene: PDE6B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Moderate myopia (HP:0031624)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 (OMIM:163500)
Gene: PDE6B
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Cataract (HP:0000518)
Associated disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Gene: PDE6B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 40 (OMIM:613801)
Gene: PDE6B
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDE6B
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PDE6B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6B
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: PDGFRB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Cerebellar dentate nucleus calcification (HP:0002461)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Xanthelasma (HP:0001114)
Associated disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Gene: PDGFRB
Phenotype: Aplasia of the nasal bone (HP:0010941)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Gene: PDGFRB
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: PDGFRB
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Gene: PDGFRB
Phenotype: Mental deterioration (HP:0001268)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: PDGFRB
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Infantile myofibromatosis (ORPHA:2591)