TaoMedAI/RareMedData huggingface dataset:
Gene: RNU12
Phenotype: Hypospadias (HP:0000047)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Hypospadias (HP:0000047)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Parietal foramina (HP:0002697)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Parietal foramina (HP:0002697)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Cleft palate (HP:0000175)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Cleft palate (HP:0000175)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Wide mouth (HP:0000154)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Rectourethral fistula (HP:0025407)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Anal atresia (HP:0002023)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Anal atresia (HP:0002023)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Intention tremor (HP:0002080)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Gowers sign (HP:0003391)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Congenital onset (HP:0003577)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Frequent falls (HP:0002359)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Porokeratosis (HP:0200044)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Porokeratosis (HP:0200044)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Ectropion (HP:0000656)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Ectopic anus (HP:0004397)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Thin fingernail (HP:0012742)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Short ribs (HP:0000773)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Short clavicles (HP:0000894)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Short thorax (HP:0010306)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Malar flattening (HP:0000272)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Malar flattening (HP:0000272)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Kyphosis (HP:0002808)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Kyphosis (HP:0002808)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Large fontanelles (HP:0000239)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Micrognathia (HP:0000347)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Proptosis (HP:0000520)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Ptosis (HP:0000508)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: DAOA
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DAOA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DAOA
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DAOA
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DAOA
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DAOA
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DAOA
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: POC1B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Central scotoma (HP:0000603)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: High myopia (HP:0011003)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Tritanomaly (HP:0000552)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: POC1B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POC1B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Gene: POC1B
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBM20
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: CARDIOMYOPATHY, DILATED, 1DD (OMIM:613172)
Gene: RBM20
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1DD (OMIM:613172)
Gene: RBM20
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1DD (OMIM:613172)
Gene: RBM20
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, DILATED, 1DD (OMIM:613172)
Gene: RBM20
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1DD (OMIM:613172)
Gene: RBM20
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1DD (OMIM:613172)
Gene: RBM20
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RBM20
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: H19
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Motor delay (HP:0001270)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Motor delay (HP:0001270)
Associated disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Gene: H19
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Seizure (HP:0001250)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Gene: H19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: H19
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: H19
Phenotype: Hypospadias (HP:0000047)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: H19
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: H19
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: H19
Phenotype: Malaise (HP:0033834)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)