Phenotype: Anophthalmia (HP:0000528)
Associated genes and diseases:
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: SMCHD1
disease_id: ORPHA:2250
disease_name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
gene_symbol: BCOR
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: NAA10
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: ALDH1A3
disease_id: OMIM:615113
disease_name: MICROPHTHALMIA, ISOLATED 8
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
gene_symbol: CSPP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RAX
disease_id: OMIM:611038
disease_name: MICROPHTHALMIA, ISOLATED 3
gene_symbol: DOCK7
disease_id: ORPHA:411986
disease_name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
gene_symbol: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: STRA6
disease_id: ORPHA:2470
disease_name: Matthew-Wood syndrome
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
gene_symbol: SHH
disease_id: OMIM:611638
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
gene_symbol: SHH
disease_id: OMIM:147250
disease_name: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
gene_symbol: ERCC8
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC8
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC4
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC6
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC6
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: FREM1
disease_id: OMIM:248450
disease_name: MANITOBA OCULOTRICHOANAL SYNDROME
gene_symbol: FREM1
disease_id: ORPHA:2717
disease_name: Oculotrichoanal syndrome
MOTA syndrome
Manitoba oculotrichoanal syndrome
Marles syndrome
Marles-Greenberg-Persaud syndrome
gene_symbol: KIF11
disease_id: ORPHA:2526
disease_name: Microcephaly-lymphedema-chorioretinopathy syndrome
MLCRD
gene_symbol: RARB
disease_id: OMIM:615524
disease_name: MICROPHTHALMIA, SYNDROMIC 12
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: CHD7
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: SEMA3E
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: FANCB
disease_id: ORPHA:3412
disease_name: VACTERL with hydrocephalus
Sujansky-Leonard syndrome
gene_symbol: POMGNT2
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: B3GALNT2
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: FKRP
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMT2
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: LARGE1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: COL4A1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: CRPPA
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: RXYLT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: DAG1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: B4GAT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMK
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: FKTN
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMGNT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: SOX2
disease_id: ORPHA:77298
disease_name: Anophthalmia/microphthalmia-esophageal atresia syndrome
MCOPS3
Syndromic microphthalmia type 3
gene_symbol: SOX2
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: BMP4
disease_id: ORPHA:139471
disease_name: Microphthalmia with brain and digit anomalies
Bakrania-Ragge syndrome
MCOPS6
Syndromic microphthalmia type 6
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: WNT7B
disease_id: ORPHA:2470
disease_name: Matthew-Wood syndrome
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
gene_symbol: NUAK2
disease_id: OMIM:619452
disease_name: ANENCEPHALY 2
gene_symbol: RBP4
disease_id: OMIM:616428
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
gene_symbol: OTX2
disease_id: OMIM:610125
disease_name: MICROPHTHALMIA, SYNDROMIC 5
gene_symbol: NDUFB11
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: COX7B
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: HCCS
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: TMEM107
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN3
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN2
disease_id: OMIM:613885
disease_name: MECKEL SYNDROME, TYPE 8
gene_symbol: B9D2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CEP290
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM216
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM231
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM67
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TXNDC15
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1L
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: MKS1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM237
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: HYLS1
disease_id: ORPHA:2189
disease_name: Hydrolethalus
gene_symbol: KIF7
disease_id: ORPHA:2189
disease_name: Hydrolethalus
gene_symbol: SIX6
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3