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Gene: Diaph3 MGI:1927222

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Gene Summary

Name:
diaphanous related formin 3
Synonyms:
4930417P13Rik,  Diap3,  Drf3,  mDia2,  p134MDia2

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
corneal vascularization Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
exophthalmos Diaph3tm1b(KOMP)Mbp HET Late adult 3.20×10-07
embryonic growth retardation Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
decreased circulating triglyceride level Diaph3tm1b(KOMP)Mbp HET Early adult 3.19×10-06
abnormal craniofacial morphology Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
abnormal iris transillumination Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
abnormal iris morphology Diaph3tm1b(KOMP)Mbp HET Late adult 4.13×10-07
embryonic growth retardation Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00
decreased circulating free fatty acids level Diaph3tm1b(KOMP)Mbp HET Early adult 2.14×10-07
abnormal iris pigmentation Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
abnormal eyelid morphology Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
abnormal pericardium morphology Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
irregularly shaped pupil Diaph3tm1b(KOMP)Mbp HET Late adult 6.18×10-07
corneal opacity Diaph3tm1b(KOMP)Mbp HET Late adult 1.18×10-06
mydriasis Diaph3tm1b(KOMP)Mbp HET Late adult 4.36×10-13
abnormal placement of pupils Diaph3tm1b(KOMP)Mbp HET Late adult 9.60×10-07
eyelids fail to open Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
narrow eye opening Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
eye hemorrhage Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
pallor Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
corneal deposits Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
decreased mean corpuscular volume Diaph3tm1b(KOMP)Mbp HET Early adult 5.27×10-05
increased mean corpuscular hemoglobin concentration Diaph3tm1b(KOMP)Mbp HET   Early adult 7.78×10-06
preweaning lethality, complete penetrance Diaph3tm1b(KOMP)Mbp HOM   Early adult 0.00
impaired pupillary reflex Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
abnormal embryo turning Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00
sclerocornea Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
abnormal cornea morphology Diaph3tm1b(KOMP)Mbp HET Late adult 1.40×10-06
abnormal embryo size Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 50% (1 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Sleep Wake

Wake state (bmp file)

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Adult LacZ

LacZ Images Section

3 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

2 Images

View images
Embryo LacZ

LacZ images wholemount

12 Images

View images
X-ray

XRay Images Forepaw

10 Images

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Gross Morphology Embryo E12.5

Images

4 Images

View images
Gross Morphology Embryo E9.5

Images

4 Images

View images
Eye Morphology

Images Ophthalmoscopy

3 Images

View images
PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

6 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Diaph3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Diaph3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
OMIM:609129

The table below shows human diseases predicted to be associated to Diaph3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Waardenburg Syndrome, Type 2D
Telecanthus, Heterochromia iridis OMIM:608890
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microcornea, Iris coloboma, Narrow palpebral fissure, Ocular anterior segment... OMIM:615145
Horner Syndrome, Congenital
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis OMIM:143000
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyebrow, White eyelashes, Hypopigmentation of th... OMIM:103500
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Telecanthus, Heterochromia irid... OMIM:619947
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Progressive Hemifacial Atrophy
Deeply set eye, Irregular hyperpigmentation, Ptosis, Heterochromia iridis ORPHA:1214
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia OMIM:148200
Aniridia 1
Ptosis, Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of th... OMIM:106210
Microphthalmia, Isolated 3
Ankyloblepharon, Sclerocornea OMIM:611038
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Megalocornea
Miosis, Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism... OMIM:309300
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o... OMIM:126070
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Atopic Keratoconjunctivitis
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... ORPHA:163934
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis, Hypertension ORPHA:1885
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Proptosis, Hypoplasia of the iris, Posterior synechiae o... OMIM:602482
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Intestinal Botulism
Ptosis, Mydriasis ORPHA:178481
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Toxin-Mediated Infectious Botulism
Ptosis, Mydriasis ORPHA:230800
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi... OMIM:619165
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal erosion, Corneal d... OMIM:608470
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Wound Botulism
Cardiac arrest, Ptosis, Mydriasis ORPHA:178475
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Ectopia pupillae, Microcornea, Epicanthus, Long eyelashes, Cataract, Sclerocornea OMIM:615877
Griscelli Syndrome Type 3
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79478
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Iatrogenic Botulism
Orthostatic hypotension, Ptosis, Mydriasis ORPHA:254509
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Urocanase Deficiency
Tremor, Fair hair, Blue irides OMIM:276880
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Proptosis, Cataract, Macular atrophy OMIM:616171
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, D... ORPHA:96125
Woolly Hair
Abnormal pupil morphology, Hypopigmentation of hair, Abnormal retinal morphology, Cataract, Spars... ORPHA:170
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, ... OMIM:612109
8Q21.11 Microdeletion Syndrome
Corneal opacity, Downslanted palpebral fissures, Iris hypopigmentation, Epicanthus, Cataract, Hyp... ORPHA:284160
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Kleeblattschaedel
Proptosis, Recurrent corneal erosions OMIM:148800
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner... ORPHA:352731
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Microphthalmia With Brain And Digit Anomalies
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Sclerocornea, Chorioretinal coloboma ORPHA:139471
Juvenile Xanthogranuloma
Blepharitis, Iritis, Asymmetry of iris pigmentation, Proptosis, Uveitis, Multiple cafe-au-lait sp... ORPHA:158000
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Ocular Cystinosis
Corneal crystals ORPHA:411641
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy, Long eyelashes, Long eyebrows, Central heterochromia OMIM:275400
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... ORPHA:209959
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Telecanthus, Heterochromia iridis, White forelock, Premature graying of... ORPHA:895
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Astigmatism, Hypertelorism, Sclerocornea, Abnormal eyelid morphology ORPHA:2095
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity, Hypertelorism ORPHA:1532
Inhalational Botulism
Ptosis, Mydriasis ORPHA:254504
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Morquio Syndrome C
Corneal opacity OMIM:252300
Foodborne Botulism
Arrhythmia, Ptosis, Mydriasis ORPHA:228371
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Unilateral narrow palpebral fissure, Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, White eyebrow, White eyel... OMIM:193510
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair, Heterochromia iridis ORPHA:66633
Frontofacionasal Dysplasia
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... ORPHA:1791
Infant Botulism
Hypotension, Mydriasis, Hypertension, Keratoconjunctivitis sicca, Cardiac arrest, Ptosis ORPHA:178478
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Abnormality of skin pigmentation, Corneal dystrophy, Keratoconjunctivitis ... ORPHA:1806
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Downslanted palpebral ... ORPHA:1390
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Telangiectasia, Ectropion, Corneal neovascularization, Choreoathetosis, Cataract, Entr... OMIM:278730
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Abnormal macular morphology, Hypoplasia of the fovea,... ORPHA:54
Triopia
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Iris coloboma, Hypertelorism... ORPHA:3374
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
3Q29 Microduplication Syndrome
Downslanted palpebral fissures, Iris coloboma, Cataract, Aniridia, Sclerocornea ORPHA:251038
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Winchester Syndrome
Corneal opacity OMIM:277950
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Optic nerve misrouting, Iris hypopigmentation, White e... ORPHA:79433
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy, Dystonia OMIM:252650
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Linear hyperpigment... OMIM:613001
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Pigmentary retinopathy, Downslanted palpebral fissures, Epicanthus, Cata... OMIM:614230
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea OMIM:251505
2Q24 Microdeletion Syndrome
Downslanted palpebral fissures, Hypertelorism, Cataract, Abnormality iris morphology ORPHA:1617
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... OMIM:203200
Griscelli Syndrome Type 1
Retinopathy, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair ORPHA:79476
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... ORPHA:137902
N Syndrome
Megalocornea, Abnormal eyelid morphology ORPHA:2608
Stromme Syndrome
Deeply set eye, Optic nerve hypoplasia, Microcornea, Peters anomaly, Iris coloboma, Retinal vascu... OMIM:243605
Eales Disease
Vitreous hemorrhage, Transient ischemic attack, Cystoid macular edema, Rhegmatogenous retinal det... ORPHA:40923
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Riboflavin Transporter Deficiency
Abnormality of macular pigmentation, Iris hypopigmentation, Optic disc pallor, Tremor, Hypertensi... ORPHA:97229
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Waardenburg Syndrome, Type 3
Blue irides, Telecanthus, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Prem... OMIM:148820
Short Syndrome
Corneal opacity, Deeply set eye, Abnormal pupil morphology, Abnormal anterior chamber morphology,... ORPHA:3163
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Proptosis ORPHA:2370
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Mental Retardation, Buenos Aires Type
Fair hair, Blue irides, Curly eyelashes, Downslanted palpebral fissures, Long eyelashes, Hypertel... OMIM:249630
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Ectopia pupillae, Hypertelorism, Epicanthus OMIM:618223
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Botulism
Arrhythmia, Mydriasis ORPHA:1267
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Retinal... ORPHA:85167
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Microcoria, Congenital
Miosis, Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Epicanthus, Proptosis, Megalocornea, Hypertelorism OMIM:618354
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... OMIM:601706
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Ectropion, Thick eyebrow, Long palpebral fissure, Downslanted palpebr... OMIM:602562
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ca... OMIM:158310
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Anterior ... ORPHA:3214
Deafness-Hypogonadism Syndrome
Epicanthus, Hypertelorism, Congenital stationary night blindness, Heterochromia iridis ORPHA:90646
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Abnormally prominent line of Schwalbe, Telecanthus, Proptosis, Rieger... OMIM:109120
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Autoinflammation With Arthritis And Dyskeratosis
Corneal neovascularization, Keratoconjunctivitis sicca, Uveitis, Punctate keratitis OMIM:617388
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigment... ORPHA:85194
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Brachymesomelia-Renal Syndrome
Blepharophimosis, Opacification of the corneal stroma, Short palpebral fissure OMIM:113470
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, Mi... OMIM:175780
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Phace Syndrome
Optic nerve hypoplasia, Sclerocornea, Iris coloboma, Cataract, Abnormality of the orbital region,... ORPHA:42775
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Retinitis Pigmentosa 42
Pallor OMIM:612943
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Phenylketonuria
Cataract, Blue irides, Fair hair, Generalized hypopigmentation OMIM:261600
Harel-Yoon Syndrome
Corneal opacity, Deeply set eye, Upslanted palpebral fissure, Optic atrophy, Developmental catara... OMIM:617183
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Hec Syndrome
Abnormal pupil morphology, Abnormal retinal vascular morphology, Arrhythmia, Developmental catara... ORPHA:2119
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... ORPHA:999
Tangier Disease
Myocardial infarction, Ectropion, Cicatricial ectropion, Opacification of the corneal stroma OMIM:205400
Trisomy 9P
Downslanted palpebral fissures, Hypertelorism, Deeply set eye, Abnormal pupil morphology ORPHA:236
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula OMIM:256540
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis, Cataract ORPHA:85172
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... ORPHA:67042
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Upslanted palpebral fissure, Myopic astigmatism, Retinal detachment, Microcornea... OMIM:152950
Hermansky-Pudlak Syndrome 11
Ocular albinism, Fair hair, Bruising susceptibility, Menorrhagia, Hypoplasia of the fovea, Gingiv... OMIM:619172
Acrofrontofacionasal Dysostosis
Aplasia/Hypoplasia of the eyebrow, Downslanted palpebral fissures, Brushfield spots, Eyelid colob... ORPHA:1784
Wyburn-Mason Syndrome
Cerebral hemorrhage, Subarachnoid hemorrhage, Iris hypopigmentation, Gingival bleeding, Proptosis... ORPHA:53719
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Peroxisome Biogenesis Disorder 2A (Zellweger)
Upslanted palpebral fissure, Palpebral edema, Opacification of the corneal stroma, Pigmentary ret... OMIM:214110
Serotonin Syndrome
Tachycardia, Hypotension, Mydriasis, Tremor, Hypertension ORPHA:43116
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma, Xanthelasma ORPHA:425
Retinitis Pigmentosa 81
Pallor OMIM:617871
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Waardenburg Syndrome, Type 1
Hypoplastic iris stroma, Premature graying of hair, Thick eyebrow, Blue irides, Telecanthus, Part... OMIM:193500
Crouzon Syndrome
Optic atrophy, Iris coloboma, Proptosis, Melanocytic nevus, Hypertelorism, Conjunctivitis, Hypopi... ORPHA:207
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Downslanted palpebral fissures, Iris coloboma, Proptosis, ... ORPHA:2143
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Vasculitis, Anterior uvei... ORPHA:279914
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Microcornea, Retinal dystrophy, Iris coloboma OMIM:615147
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Mydriasis, Optic atrophy, Epicanthus, Proptosis, Optic nerve compression, Hyper... OMIM:619727
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Opacification of the corneal stroma, Pigmentary retinopathy, Optic nerve dysplas... OMIM:614866
Keratoconus Posticus Circumscriptus
Hypertelorism, Keratoconus, Central posterior corneal opacity OMIM:244600
Cat-Eye Syndrome (Type I)
Downslanted palpebral fissures, Iris coloboma DECIPHER:42
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cherubism
Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil, Macular scar OMIM:118400
Joint Laxity, Short Stature, And Myopia
Iris coloboma, Retinal detachment, Proptosis, Chorioretinal coloboma OMIM:617662
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Telecanthus, Hypert... OMIM:601499
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Oculomaxillofacial Dysostosis
Corneal opacity, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Sparse or absent... ORPHA:1794
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Bartsocas-Papas Syndrome 2
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Axillary pterygium, Antecubital pterygium OMIM:619339
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Alexander Disease
Microcoria OMIM:203450
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Palpebral edema, Iris coloboma, Ectopia lentis, Ptosis ORPHA:1259
Chromosome 5P13 Duplication Syndrome
Hypotelorism, Short palpebral fissure, Upslanted palpebral fissure, Astigmatism, Epicanthus, Prop... OMIM:613174
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma OMIM:169550
Hermansky-Pudlak Syndrome 5
Ocular albinism, Bruising susceptibility, Menorrhagia, Hypoplasia of the fovea, Albinism, Iris tr... OMIM:614074
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Miosis, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Choriore... OMIM:212550
Noonan Syndrome 9
Sparse eyebrow, Pulmonic stenosis, Downslanted palpebral fissures, Prominent corneal nerve fibers... OMIM:616559
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Retinoblastoma
Hypopyon, Heterochromia iridis, Retinoblastoma, Vitreous hemorrhage, Abnormality of retinal pigme... ORPHA:790
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Congenital Microcoria
Hypoplastic iris stroma, Abnormal pupillary light reflex, Nuclear cataract, Corneal stromal edema... ORPHA:566
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Coats Disease
Exudative retinal detachment, Retinal telangiectasia, Leukocoria OMIM:300216
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Retinal infarction, Hypertension, Mydriasis OMIM:613834
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... ORPHA:94058
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Bra... OMIM:618815
Retinal Capillary Malformation
Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Epiretinal membrane, Vitreous floa... ORPHA:71213
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Pigmentary retinopathy, Corneal crystals ORPHA:411629
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse eyelashes, Opacification of the corneal stroma, Downslanted palpebral fissures, Distichias... OMIM:211370
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411515
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, Hypoplasia of the iris, White... OMIM:611584
Pituitary Apoplexy
Hypertension, Ptosis, Hypotension, Mydriasis ORPHA:95613
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Telecanthus, Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea OMIM:615458
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Piebaldism
Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal... ORPHA:2884
Proteus-Like Syndrome
Abnormal pupil morphology, Irregular hyperpigmentation, Retinal detachment, Limbal dermoid, Downs... ORPHA:2969
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Telecanthus, Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Retinal degeneration, Aortic regurgitation OMIM:607016
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Opacification of the corneal stroma OMIM:252605
Noonan Syndrome 4
Blue irides, Sparse eyebrow, Bruising susceptibility, Pulmonic stenosis, Abnormal bleeding, Downs... OMIM:610733
Edinburgh Malformation Syndrome
Synophrys, Brushfield spots ORPHA:1895
Chromosome 6Pter-P24 Deletion Syndrome
Hypertelorism, Short palpebral fissure, Axenfeld anomaly, Opacification of the corneal stroma, Po... OMIM:612582
Retinitis Pigmentosa 60
Pallor OMIM:613983
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Deeply set eye, Upslanted palpebral fissure, Optic nerve hypoplasia, Optic atrop... ORPHA:496790
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Deeply set eye, Blue irides, Hand tremor, Upslanted palpebral fissure, Epicanthus, Cafe-au-lait spot ORPHA:3041
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity, Proptosis OMIM:166300
Pontocerebellar Hypoplasia Type 10
Long palpebral fissure, Optic atrophy, Proptosis, Long eyelashes, Highly arched eyebrow ORPHA:411493
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, Telecanthus, White eyebrow, White eyelashes, Synophrys, ... ORPHA:894
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Arrhythmia, Pigmentary retinopathy, Peters anomaly, Iris coloboma... OMIM:309801
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia, Retinal detachment, Leukocoria OMIM:219250
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Epicanthus, Microcornea ORPHA:2536
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Thin eyebrow, Arrhythmia, Mydriasis, Tremor, Choreoathetosis, Cardiomyopathy, Ca... ORPHA:2131
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Sparse eyebrow, Lipomas of eyelids, Hamartoma of the orbital region, Telecanthus... ORPHA:2399
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Optic disc pallor, Narrow palpebral fissure, Cataract, Sclerocornea OMIM:619869
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Proptosis, Hypertelorism OMIM:618961
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Ectropion, Conjunctivitis, Keratoconjunctivitis sicca ORPHA:411777
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Wolf-Hirschhorn Syndrome
Retinopathy, Megalocornea, Downslanted palpebral fissures, Epicanthus, Iris coloboma, Optic atrop... ORPHA:280
Arachnoid Cyst
Subarachnoid hemorrhage, Ptosis, Mydriasis ORPHA:2356
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Trisomy 12P
Thick eyebrow, Epicanthus, Proptosis, Hypertelorism, Aplasia/Hypoplasia of the iris ORPHA:1699
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma OMIM:603776
Stickler Syndrome Type 1
Proptosis, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma, Lacrimal duct atresia ORPHA:139450
Alagille Syndrome
Telangiectasia of the skin, Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fiss... ORPHA:52
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Hypercholesterolemia, Familial, 1
Corneal arcus, Xanthelasma OMIM:143890
Waardenburg Syndrome, Type 4C
Blue irides, Lacrimal gland hypoplasia, White eyebrow, White eyelashes, Heterochromia iridis, Whi... OMIM:613266
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Retinal dystrophy, Epicanthus, Narrow palpebral fissure... OMIM:618175
Oculoectodermal Syndrome
Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism, Epicanthus, Propto... OMIM:600268
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Proptosis, Cataract OMIM:617481
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Hypertelorism, Opacification of the corneal stroma OMIM:601853
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea,... ORPHA:79431
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Vitritis, Abnormality of retinal pigmentation, Tricuspid regurgitation, Abnormal... ORPHA:2556
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Zellweger Syndrome
Corneal opacity, Upslanted palpebral fissure, Posterior embryotoxon, Abnormal chorioretinal morph... ORPHA:912
Hermansky-Pudlak Syndrome
Ocular albinism, Bruising susceptibility, Abnormal bleeding, Hypopigmentation of the skin, Hypopi... ORPHA:79430
Ichthyosis, Congenital, Autosomal Recessive 11
Blepharitis, Corneal opacity, Sparse eyebrow, Sparse eyelashes, Curly eyelashes OMIM:602400
Noonan Syndrome 13
Blue irides, Bruising susceptibility, Mitral regurgitation, Broad eyebrow, Multiple lentigines, D... OMIM:619087
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation, Athetosis ORPHA:834
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Whi... OMIM:172800
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Hypoplasia of the fovea, Astigmatism, Alb... OMIM:203100
Cat-Eye Syndrome
Downslanted palpebral fissures, Iris coloboma, Hypertelorism, Chorioretinal coloboma ORPHA:195
Sturge-Weber Syndrome
Abnormal retinal vascular morphology, Retinal detachment, Conjunctival telangiectasia, Pulmonary ... ORPHA:3205
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Choroideremia, Ocular albinism, Ectropion, Hypopigmentation of hair, Athetosis, ... ORPHA:2719
Baraitser-Winter Cerebrofrontofacial Syndrome
Hypertelorism, Long palpebral fissure, Palpebral edema, Microcornea, Euryblepharon, Optic disc co... ORPHA:2995
Duane Retraction Syndrome