TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal location of the eyebrow (HP:0040296)
Associated genes and diseases:
gene_symbol: SYT1
disease_id: ORPHA:522077
disease_name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
Phenotype: Decreased circulating free fatty acid level (HP:0040299)
Associated genes and diseases:
gene_symbol: UCP2
disease_id: ORPHA:276556
disease_name: Hyperinsulinism due to UCP2 deficiency
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
gene_symbol: HNF1A
disease_id: ORPHA:324575
disease_name: Hyperinsulinism due to HNF1A deficiency
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
gene_symbol: ABCC8
disease_id: ORPHA:276575
disease_name: Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
gene_symbol: KCNJ11
disease_id: ORPHA:79644
disease_name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Phenotype: Abnormality of pattern visual evoked potentials (HP:0030455)
Associated genes and diseases:
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
gene_symbol: OPA1
disease_id: OMIM:165500
disease_name: OPTIC ATROPHY 1
gene_symbol: SPG11
disease_id: ORPHA:2822
disease_name: Autosomal recessive spastic paraplegia type 11
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: CLN8
disease_id: ORPHA:1947
disease_name: Progressive epilepsy-intellectual disability syndrome, Finnish type
CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Northern epilepsy
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
Phenotype: Abnormal electrooculogram (HP:0030454)
Associated genes and diseases:
gene_symbol: IMPG1
disease_id: OMIM:616151
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 4
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
Phenotype: Neoplasm of the autonomic nervous system (HP:0030450)
Associated genes and diseases:
gene_symbol: PHOX2B
disease_id: OMIM:613013
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
gene_symbol: PHOX2B
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: PHOX2B
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
gene_symbol: EDN3
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: GDNF
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: BDNF
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: LBX1
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: MYO1H
disease_id: ORPHA:661
disease_name: Congenital central hypoventilation syndrome
CCHS
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
gene_symbol: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: RET
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: KIF1B
disease_id: OMIM:256700
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
gene_symbol: PIK3CA
disease_id: ORPHA:168984
disease_name: CLAPO syndrome
gene_symbol: ASCL1
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
Phenotype: Low-grade vesicoureteral reflux (HP:0033733)
Associated genes and diseases:
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
Phenotype: High-grade vesicoureteral reflux (HP:0033734)
Associated genes and diseases:
gene_symbol: SOX17
disease_id: OMIM:613674
disease_name: VESICOURETERAL REFLUX 3
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Phenotype: Grade II vesicoureteral reflux (HP:0033736)
Associated genes and diseases:
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
Phenotype: Grade III vesicoureteral reflux (HP:0033737)
Associated genes and diseases:
gene_symbol: SOX17
disease_id: OMIM:613674
disease_name: VESICOURETERAL REFLUX 3
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Phenotype: Undetectable light-adapted electroretinogram (HP:0030465)
Associated genes and diseases:
gene_symbol: ATF6
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6C
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6C
disease_id: OMIM:613093
disease_name: CONE DYSTROPHY 4
gene_symbol: RPGR
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6H
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: GNAT2
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGA3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGA3
disease_id: OMIM:216900
disease_name: ACHROMATOPSIA 2
gene_symbol: CNGB3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
Phenotype: Abnormal pattern electroretinogram (HP:0030467)
Associated genes and diseases:
gene_symbol: TLCD3B
disease_id: OMIM:619531
disease_name: CONE-ROD DYSTROPHY 22
gene_symbol: TTLL5
disease_id: OMIM:615860
disease_name: CONE-ROD DYSTROPHY 19
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated genes and diseases:
gene_symbol: RS1
disease_id: ORPHA:792
disease_name: X-linked retinoschisis
X-linked juvenile retinoschisis
XLRS
gene_symbol: RS1
disease_id: OMIM:312700
disease_name: RETINOSCHISIS 1, X-LINKED, JUVENILE
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
gene_symbol: TRPM1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CABP4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: LRIT3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA2D4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRM6
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: PDE6B
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GPR179
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRK1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA1F
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: RHO
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SLC24A1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SAG
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNB3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNAT1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: NYX
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CFAP418
disease_id: OMIM:617406
disease_name: BARDET-BIEDL SYNDROME 21
Phenotype: Abnormal amplitude of flash visual evoked potentials (HP:0030462)
Associated genes and diseases:
gene_symbol: POMGNT1
disease_id: OMIM:253280
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
Phenotype: Grade IV vesicoureteral reflux (HP:0033741)
Associated genes and diseases:
gene_symbol: SOX17
disease_id: OMIM:613674
disease_name: VESICOURETERAL REFLUX 3
Phenotype: Macular agenesis (HP:0033743)
Associated genes and diseases:
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
Phenotype: Abnormal dark-adapted bright flash electroretinogram (HP:0030470)
Associated genes and diseases:
gene_symbol: LRIT3
disease_id: OMIM:615058
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
gene_symbol: LRIT3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRK1
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: GRK1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SAG
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: SAG
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: RS1
disease_id: ORPHA:792
disease_name: X-linked retinoschisis
X-linked juvenile retinoschisis
XLRS
gene_symbol: RS1
disease_id: OMIM:312700
disease_name: RETINOSCHISIS 1, X-LINKED, JUVENILE
gene_symbol: CACNA2D4
disease_id: OMIM:610478
disease_name: RETINAL CONE DYSTROPHY 4
gene_symbol: CACNA2D4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
gene_symbol: CABP4
disease_id: OMIM:610427
disease_name: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE
gene_symbol: CABP4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: TRPM1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRM6
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: PDE6B
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GPR179
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA1F
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA1F
disease_id: OMIM:300071
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
gene_symbol: RHO
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SLC24A1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNB3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNAT1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: NYX
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CFAP418
disease_id: OMIM:617406
disease_name: BARDET-BIEDL SYNDROME 21
Phenotype: Undetectable dark-adapted electroretinogram (HP:0030474)
Associated genes and diseases:
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
Phenotype: Abnormal amplitude of dark-adapted bright flash electroretinogram (HP:0030478)
Associated genes and diseases:
gene_symbol: LRIT3
disease_id: OMIM:615058
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
gene_symbol: LRIT3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRK1
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: GRK1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SAG
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: SAG
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: RS1
disease_id: ORPHA:792
disease_name: X-linked retinoschisis
X-linked juvenile retinoschisis
XLRS
gene_symbol: RS1
disease_id: OMIM:312700
disease_name: RETINOSCHISIS 1, X-LINKED, JUVENILE
gene_symbol: CACNA2D4
disease_id: OMIM:610478
disease_name: RETINAL CONE DYSTROPHY 4
gene_symbol: CACNA2D4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
gene_symbol: CABP4
disease_id: OMIM:610427
disease_name: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE
gene_symbol: CABP4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: TRPM1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRM6
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: PDE6B
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GPR179
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA1F
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA1F
disease_id: OMIM:300071
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
gene_symbol: RHO
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SLC24A1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNB3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNAT1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: NYX
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CFAP418
disease_id: OMIM:617406
disease_name: BARDET-BIEDL SYNDROME 21
Phenotype: Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479)
Associated genes and diseases:
gene_symbol: CACNA1F
disease_id: OMIM:300071
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
Phenotype: Abnormal light-adapted flicker electroretinogram (HP:0030473)
Associated genes and diseases:
gene_symbol: PDE6H
disease_id: OMIM:610024
disease_name: RETINAL CONE DYSTROPHY 3A
gene_symbol: KIF3B
disease_id: OMIM:618955
disease_name: RETINITIS PIGMENTOSA 89
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
gene_symbol: CACNA1F
disease_id: OMIM:300071
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
Phenotype: Abnormal left ventricular end-diastolic volume (HP:0033754)
Associated genes and diseases:
gene_symbol: DMD
disease_id: OMIM:302045
disease_name: CARDIOMYOPATHY, DILATED, 3B
gene_symbol: CRYAB
disease_id: OMIM:615184
disease_name: CARDIOMYOPATHY, DILATED, 1II
gene_symbol: TNNI3
disease_id: OMIM:613286
disease_name: CARDIOMYOPATHY, DILATED, 1FF
gene_symbol: TNNI3
disease_id: OMIM:611880
disease_name: CARDIOMYOPATHY, DILATED, 2A
gene_symbol: MYBPC3
disease_id: OMIM:615396
disease_name: LEFT VENTRICULAR NONCOMPACTION 10
gene_symbol: MYH6
disease_id: OMIM:613252
disease_name: CARDIOMYOPATHY, DILATED, 1EE
gene_symbol: MYPN
disease_id: OMIM:615248
disease_name: CARDIOMYOPATHY, DILATED, 1KK
gene_symbol: NEXN
disease_id: OMIM:613122
disease_name: CARDIOMYOPATHY, DILATED, 1CC
gene_symbol: BAG3
disease_id: OMIM:613881
disease_name: CARDIOMYOPATHY, DILATED, 1HH
gene_symbol: PSEN1
disease_id: OMIM:613694
disease_name: CARDIOMYOPATHY, DILATED, 1U
gene_symbol: PSEN2
disease_id: OMIM:613697
disease_name: CARDIOMYOPATHY, DILATED, 1V
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: BAG5
disease_id: OMIM:619747
disease_name: CARDIOMYOPATHY, DILATED, 2F
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: RAF1
disease_id: OMIM:615916
disease_name: CARDIOMYOPATHY, DILATED, 1NN
gene_symbol: DSG2
disease_id: OMIM:612877
disease_name: CARDIOMYOPATHY, DILATED, 1BB
gene_symbol: FKTN
disease_id: OMIM:611615
disease_name: CARDIOMYOPATHY, DILATED, 1X
gene_symbol: ADAMTS19
disease_id: OMIM:620067
disease_name: CARDIAC VALVULAR DYSPLASIA 2
gene_symbol: TPM1
disease_id: OMIM:611878
disease_name: CARDIOMYOPATHY, DILATED, 1Y
gene_symbol: SGCD
disease_id: OMIM:606685
disease_name: CARDIOMYOPATHY, DILATED, 1L
gene_symbol: LDB3
disease_id: OMIM:601493
disease_name: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: VCL
disease_id: OMIM:611407
disease_name: CARDIOMYOPATHY, DILATED, 1W
gene_symbol: CSRP3
disease_id: OMIM:607482
disease_name: CARDIOMYOPATHY, DILATED, 1M
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated genes and diseases:
gene_symbol: DMD
disease_id: OMIM:302045
disease_name: CARDIOMYOPATHY, DILATED, 3B
gene_symbol: CRYAB
disease_id: OMIM:615184
disease_name: CARDIOMYOPATHY, DILATED, 1II
gene_symbol: TNNI3
disease_id: OMIM:613286
disease_name: CARDIOMYOPATHY, DILATED, 1FF
gene_symbol: TNNI3
disease_id: OMIM:611880
disease_name: CARDIOMYOPATHY, DILATED, 2A
gene_symbol: MYBPC3
disease_id: OMIM:615396
disease_name: LEFT VENTRICULAR NONCOMPACTION 10
gene_symbol: MYH6
disease_id: OMIM:613252
disease_name: CARDIOMYOPATHY, DILATED, 1EE
gene_symbol: MYPN
disease_id: OMIM:615248
disease_name: CARDIOMYOPATHY, DILATED, 1KK
gene_symbol: NEXN
disease_id: OMIM:613122
disease_name: CARDIOMYOPATHY, DILATED, 1CC
gene_symbol: BAG3
disease_id: OMIM:613881
disease_name: CARDIOMYOPATHY, DILATED, 1HH
gene_symbol: PSEN1
disease_id: OMIM:613694
disease_name: CARDIOMYOPATHY, DILATED, 1U
gene_symbol: PSEN2
disease_id: OMIM:613697
disease_name: CARDIOMYOPATHY, DILATED, 1V
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: BAG5
disease_id: OMIM:619747
disease_name: CARDIOMYOPATHY, DILATED, 2F
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: RAF1
disease_id: OMIM:615916
disease_name: CARDIOMYOPATHY, DILATED, 1NN
gene_symbol: DSG2
disease_id: OMIM:612877
disease_name: CARDIOMYOPATHY, DILATED, 1BB
gene_symbol: FKTN
disease_id: OMIM:611615
disease_name: CARDIOMYOPATHY, DILATED, 1X
gene_symbol: ADAMTS19
disease_id: OMIM:620067
disease_name: CARDIAC VALVULAR DYSPLASIA 2
gene_symbol: TPM1
disease_id: OMIM:611878
disease_name: CARDIOMYOPATHY, DILATED, 1Y
gene_symbol: SGCD
disease_id: OMIM:606685
disease_name: CARDIOMYOPATHY, DILATED, 1L
gene_symbol: LDB3
disease_id: OMIM:601493
disease_name: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: VCL
disease_id: OMIM:611407
disease_name: CARDIOMYOPATHY, DILATED, 1W
gene_symbol: CSRP3
disease_id: OMIM:607482
disease_name: CARDIOMYOPATHY, DILATED, 1M
Phenotype: Pancreatic steatosis (HP:0033757)
Associated genes and diseases:
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
Phenotype: Impaired renal tubular reabsorption of magnesium (HP:0033759)
Associated genes and diseases:
gene_symbol: CNNM2
disease_id: OMIM:613882
disease_name: HYPOMAGNESEMIA 6, RENAL
Phenotype: Broad uvula (HP:0010809)
Associated genes and diseases:
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Underdeveloped nasolabial fold (HP:0010801)
Associated genes and diseases:
gene_symbol: MAN1B1
disease_id: OMIM:614202
disease_name: RAFIQ SYNDROME
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
gene_symbol: PGM2L1
disease_id: OMIM:620191
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
Phenotype: Absent cupid's bow (HP:0010800)
Associated genes and diseases:
gene_symbol: WAC
disease_id: ORPHA:284169
disease_name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
10p12p11 microdeletion syndrome
Del(10)(p11.21p12.31)
Deletion 10p11.21p12.31
Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion
Monosomy 10p11.21p12.31
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: CEP295
disease_id: OMIM:620767
disease_name: SECKEL SYNDROME 11
gene_symbol: DDX59
disease_id: ORPHA:2919
disease_name: Orofaciodigital syndrome type 5
OFD5
Oral-facial-digital syndrome type 5
Orofaciodigital syndrome, Thurston type
Polydactyly postaxial with median cleft of upper lip
Thurston syndrome