Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated genes and diseases:
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
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: ATF6
disease_id: OMIM:616517
disease_name: ACHROMATOPSIA 7
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: 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
gene_symbol: CACNA1F
disease_id: ORPHA:178333
disease_name: Åland Islands eye disease
AIED
Forsius-Eriksson syndrome
Forsius-Eriksson type ocular albinism
gene_symbol: CACNA1F
disease_id: OMIM:300600
disease_name: ALAND ISLAND EYE DISEASE
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: PAX6
disease_id: ORPHA:2334
disease_name: Autosomal dominant keratitis
Hereditary keratitis
gene_symbol: PAX6
disease_id: OMIM:136520
disease_name: FOVEAL HYPOPLASIA 1
gene_symbol: PAX6
disease_id: OMIM:604229
disease_name: ANTERIOR SEGMENT DYSGENESIS 5
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: SLC24A5
disease_id: OMIM:113750
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VI
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: TYR
disease_id: OMIM:203100
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE IA
gene_symbol: TYR
disease_id: ORPHA:79431
disease_name: Oculocutaneous albinism type 1A
OCA1A
Tyrosinase-negative oculocutaneous albinism
gene_symbol: TYR
disease_id: ORPHA:79434
disease_name: Oculocutaneous albinism type 1B
OCA1B
Oculocutaneous albinism, Amish type
Platinum oculocutaneous albinism
Yellow oculocutaneous albinism
gene_symbol: MC1R
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: UGP2
disease_id: OMIM:618744
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83
gene_symbol: MTSS2
disease_id: OMIM:620086
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES
gene_symbol: AP3D1
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: GPR143
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: GPR143
disease_id: OMIM:300500
disease_name: ALBINISM, OCULAR, TYPE I
gene_symbol: SLC38A8
disease_id: OMIM:609218
disease_name: FOVEAL HYPOPLASIA 2
gene_symbol: HPS4
disease_id: OMIM:614073
disease_name: HERMANSKY-PUDLAK SYNDROME 4
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: DCT
disease_id: OMIM:619165
disease_name: OCULOCUTANEOUS ALBINISM, TYPE VIII
gene_symbol: CFAP418
disease_id: OMIM:617406
disease_name: BARDET-BIEDL SYNDROME 21
gene_symbol: FZD5
disease_id: OMIM:620731
disease_name: MICROPHTHALMIA/COLOBOMA 11
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: GDF6
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: GDF3
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: SLC25A19
disease_id: OMIM:607196
disease_name: MICROCEPHALY, AMISH TYPE
gene_symbol: SLC45A2
disease_id: ORPHA:79435
disease_name: Oculocutaneous albinism type 4
OCA4
gene_symbol: NEU1
disease_id: ORPHA:93400
disease_name: Congenital sialidosis type 2