Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
sclerocornea Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
increased mean corpuscular hemoglobin concentration Diaph3tm1b(KOMP)Mbp HET   Early adult 7.78×10-06
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
corneal deposits Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
pallor Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
decreased circulating triglyceride level Diaph3tm1b(KOMP)Mbp HET Early adult 3.09×10-06
decreased circulating free fatty acids level Diaph3tm1b(KOMP)Mbp HET Early adult 1.38×10-07
impaired pupillary reflex Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
exophthalmos Diaph3tm1b(KOMP)Mbp HET Late adult 3.20×10-07
abnormal pericardium morphology Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
embryonic growth retardation Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00
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
abnormal eyelid morphology Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
irregularly shaped pupil Diaph3tm1b(KOMP)Mbp HET Late adult 6.18×10-07
decreased mean corpuscular volume Diaph3tm1b(KOMP)Mbp HET Early adult 5.27×10-05
abnormal iris pigmentation Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
mydriasis Diaph3tm1b(KOMP)Mbp HET Late adult 4.36×10-13
abnormal craniofacial morphology Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
embryonic growth retardation Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
preweaning lethality, complete penetrance Diaph3tm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal cornea morphology Diaph3tm1b(KOMP)Mbp HET Late adult 1.40×10-06
decreased blood urea nitrogen level Diaph3tm1b(KOMP)Mbp HET   Early adult 2.53×10-05
abnormal placement of pupils Diaph3tm1b(KOMP)Mbp HET Late adult 9.60×10-07
corneal opacity Diaph3tm1b(KOMP)Mbp HET Late adult 1.18×10-06
eyelids fail to open Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
abnormal embryo turning Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00
corneal vascularization Diaph3tm1b(KOMP)Mbp HET Late adult 1.61×10-07
abnormal embryo size Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

13 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E12.5

Images

4 Images

Gross Morphology Embryo E9.5

Images

4 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

3 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

6 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 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Waardenburg Syndrome, Type 2D
Heterochromia iridis, Telecanthus OMIM:608890
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis, Sclerocornea, Hypertelorism, Iris coloboma, Retinal detachment,... OMIM:615145
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Horner Syndrome, Congenital
Heterochromia iridis, Congenital Horner syndrome, Deeply set eye OMIM:143000
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, Hypopigmentation of the fundus, White eyelashes, White... OMIM:103500
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Ptosis, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract,... ORPHA:1067
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Epicanthus, Long eyelashes, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Progressive Hemifacial Atrophy
Heterochromia iridis, Irregular hyperpigmentation, Deeply set eye, Ptosis ORPHA:1214
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
Microphthalmia, Isolated 3
Sclerocornea, Ankyloblepharon OMIM:611038
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
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
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Hypertelorism, Proptosis, Ectopia pupillae OMIM:602482
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Anterior Segment Dysgenesis 5
Developmental cataract, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasia of the iris, S... OMIM:604229
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation... OMIM:126070
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Vitreous hemorrhage, Reti... ORPHA:39044
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline 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
Megalocornea
Megalocornea OMIM:249300
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
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Macular hypoplasia, Hypopigmentation of hair OMIM:606574
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... ORPHA:163934
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Dermoids Of Cornea
Corneal opacity OMIM:304730
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Iris coloboma, Retinal deta... ORPHA:1473
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the cornea... OMIM:608470
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Intestinal Botulism
Mydriasis, Ptosis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis, Ptosis ORPHA:230800
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of the skin, Chorioretin... OMIM:619165
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Wound Botulism
Mydriasis, Cardiac arrest, Ptosis ORPHA:178475
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension, Ptosis ORPHA:254509
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Chromosome 8Q21.11 Deletion Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Opacification of the... OMIM:614230
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Hypertelorism, Epicanthus, Downslanted palpebral f... ORPHA:96125
Urocanase Deficiency
Blue irides, Fair hair, Tremor OMIM:276880
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Proptosis, Cataract, Retinopathy, Microcornea OMIM:616171
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Woolly Hair
Sparse lateral eyebrow, Abnormal pupil morphology, Cataract, Hypopigmentation of hair, Abnormal r... ORPHA:170
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Morning glory a... OMIM:612109
8Q21.11 Microdeletion Syndrome
Ptosis, Sclerocornea, Hypertelorism, Epicanthus, Downslanted palpebral fissures, Corneal opacity,... ORPHA:284160
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Kleeblattschaedel
Recurrent corneal erosions, Proptosis OMIM:148800
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Proptosis, Multiple cafe-au-lait spots, Blepharitis, Iri... ORPHA:158000
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Iris transillumination defect... ORPHA:352731
Winchester Syndrome
Corneal opacity OMIM:277950
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Microcornea ORPHA:139471
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Ocular Cystinosis
Corneal crystals ORPHA:411641
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Oliver-Mcfarlane Syndrome
Retinal degeneration, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Long eyebrows OMIM:275400
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... ORPHA:209959
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Ptosis, Telecanthus, Heterochromia iridis, White forelock, Hypopigmen... ORPHA:895
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... OMIM:221900
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:277580
Gómez-López-Hernández Syndrome
Hypertelorism, Corneal opacity, Telecanthus ORPHA:1532
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Inhalational Botulism
Mydriasis, Ptosis ORPHA:254504
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Sclerocornea, Hypertelorism, Abnormal eyelid morphology, Astigmatism ORPHA:2095
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Morquio Syndrome C
Corneal opacity OMIM:252300
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Foodborne Botulism
Mydriasis, Arrhythmia, Ptosis ORPHA:228371
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Cataract, Unilateral narrow palpebral fissure, Astigmatism, Ectopia pupillae OMIM:618727
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia,... OMIM:310600
Waardenburg Syndrome, Type 2A
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... OMIM:193510
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair, Tremor ORPHA:66633
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Abnormality of skin pigmentation, Corneal dystrophy, Ca... ORPHA:1806
Infant Botulism
Mydriasis, Hypertension, Keratoconjunctivitis sicca, Ptosis, Cardiac arrest, Hypotension ORPHA:178478
Frontofacionasal Dysplasia
Limbal dermoid, Upper eyelid coloboma, Ptosis, Hypertelorism, Brushfield spots, Telecanthus, Iris... ORPHA:1791
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... ORPHA:91495
Triopia
Hypertelorism, Abnormal eyebrow morphology, Iris coloboma, Abnormal pupil morphology, Microcornea... ORPHA:3374
3Q29 Microduplication Syndrome
Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma, Cataract ORPHA:251038
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Ptosis, Epicanthus, Downslanted palpebral fissures, Heteroch... ORPHA:1390
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmenta... ORPHA:54
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Linear hyperpigmentation, Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, ... OMIM:613001
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Telangiectasia, Ectropion, Keratitis, Cataract, Corneal neovasculariz... OMIM:278730
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Orbital cyst OMIM:251505
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Iris hypopigmentation, Cataract ORPHA:67048
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
2Q24 Microdeletion Syndrome
Hypertelorism, Downslanted palpebral fissures, Cataract, Abnormality iris morphology ORPHA:1617
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
N Syndrome
Megalocornea, Abnormal eyelid morphology ORPHA:2608
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Broad eyebrow, Decreased corneal sensation, Upslanted palpebral fissure, Hypertelorism, Keratitis... OMIM:122430
Griscelli Syndrome Type 1
Partial albinism, White hair, Iris hypopigmentation, Retinopathy, Premature graying of hair ORPHA:79476
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albinism, Hypopigmentation ... OMIM:203200
Stromme Syndrome
Sclerocornea, Optic nerve hypoplasia, Hypertelorism, Peters anomaly, Iris coloboma, Cataract, Ret... OMIM:243605
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Riboflavin Transporter Deficiency
Hypertension, Optic disc pallor, Ptosis, Tremor, Abnormality of macular pigmentation, Iris hypopi... ORPHA:97229
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Hypertelorism, Telecanthus, Abnormal pupil morphol... ORPHA:3163
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Partial albinism, Telecanthus, Heterochromia iridis, Whi... OMIM:148820
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Proptosis ORPHA:2370
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Botulism
Mydriasis, Arrhythmia ORPHA:1267
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypertelorism, Epicanthus, Ectopia pupillae, Pulmonic stenosis OMIM:618223
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Mental Retardation, Buenos Aires Type
Blue irides, Ptosis, Curly eyelashes, Long eyelashes, Downslanted palpebral fissures, Hypertelori... OMIM:249630
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... OMIM:133780
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Macular atrophy, Lens subluxation, Retinal atrophy, Retinal ... ORPHA:85167
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Crystalline corneal dystrophy, Choriore... ORPHA:41751
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... OMIM:601706
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Proptosis, Hypertelorism, Epicanthus, Megalocornea OMIM:618354
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Hypertelorism, Telecanthus, Proptosis, Abnormally prominent line of Schwalbe, Abs... OMIM:109120
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Ectropion, Hypertelorism, Downslanted palpebral fissures, Long palpebral fissure,... OMIM:602562
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Abnormal size of the palpebral fissures, Hyperpigmentation... ORPHA:3214
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Keratoconjunctivitis, Corneal neovasculari... OMIM:158310
Deafness-Hypogonadism Syndrome
Heterochromia iridis, Hypertelorism, Epicanthus, Congenital stationary night blindness ORPHA:90646
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Blepharophimosis, Short palpebral fissure OMIM:113470
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis OMIM:617388
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal neovascularization, Vitreous hemorrhage, Retin... OMIM:193220
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Phace Syndrome
Lens coloboma, Abnormality of the orbital region, Retinal vascular malformation, Ptosis, Scleroco... ORPHA:42775
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Hypertelorism, Abnormal eyebrow morphology, Retinal detachment, C... ORPHA:85194
Retinal Venous Beading
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... OMIM:180080
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Retinitis Pigmentosa 42
Pallor OMIM:612943
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Phenylketonuria
Blue irides, Generalized hypopigmentation, Cataract, Fair hair OMIM:261600
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis, Cataract ORPHA:85172
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Developmental cataract, Retinal arteriolar tortuosity, Polycoria, Hypoplasia... OMIM:175780
Hec Syndrome
Developmental cataract, Cardiomyopathy, Abnormal pupil morphology, Abnormal retinal vascular morp... ORPHA:2119
Trisomy 9P
Abnormal pupil morphology, Hypertelorism, Downslanted palpebral fissures, Deeply set eye ORPHA:236
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Ptosis, Hypertelorism, Brushfield spots, Downslanted palpebral fissur... ORPHA:1784
Peroxisome Biogenesis Disorder 2A (Zellweger)
Upslanted palpebral fissure, Hypertelorism, Brushfield spots, Epicanthus, Palpebral edema, Catara... OMIM:214110
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Late-Onset Retinal Degeneration
Macular atrophy, Multifocal subretinal deposits, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Hermansky-Pudlak Syndrome 11
Menorrhagia, Gingival bleeding, Ocular albinism, Hypoplasia of the fovea, Iris transillumination ... OMIM:619172
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion, Ectropion OMIM:205400
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula OMIM:256540
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Upslanted palpebral fissure, Chorioretinal dyspl... OMIM:152950
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Retinal vascular malformation, Epistaxis, Iris hypopigmen... ORPHA:53719
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Serotonin Syndrome
Mydriasis, Hypertension, Tachycardia, Tremor, Hypotension ORPHA:43116
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypertelorism, Brushfield spots, Epicanthus, Palpebral edema, Cataract, Pigmentary retinopathy, O... OMIM:614866
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Hamartoma of the orbital region, Hypertelorism, Telecanthus, Sparse eyebr... ORPHA:2399
Retinitis Pigmentosa 81
Pallor OMIM:617871
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, Hypoplastic iris stroma, Hypertelorism, Telecanthus, Hypopigmentat... OMIM:193500
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Ankyloblepharon, Antecubital pterygium, Corneal opacity, Axillary pterygium OMIM:619339
Crouzon Disease
Hypopigmented skin patches, Optic atrophy, Ptosis, Hypertelorism, Melanocytic nevus, Iris colobom... ORPHA:207
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Angina pectoris, Xanthelasma ORPHA:425
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Donnai-Barrow Syndrome
Retinal dystrophy, Hypertelorism, Downslanted palpebral fissures, Iris coloboma, Retinal detachme... ORPHA:2143
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea OMIM:615147
Cat-Eye Syndrome (Type I)
Downslanted palpebral fissures, Iris coloboma DECIPHER:42
Intermediate Uveitis
Vitreous floaters, Macular edema, Anterior uveitis, Optic neuritis, Vitreous snowballs, Vasculiti... ORPHA:279914
Cherubism
Optic neuropathy, Marcus Gunn pupil, Proptosis, Lower eyelid retraction, Macular scar OMIM:118400
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Keratoconus Posticus Circumscriptus
Hypertelorism, Keratoconus, Central posterior corneal opacity OMIM:244600
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Oculomaxillofacial Dysostosis
Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opacity, Sparse or absent eyelas... ORPHA:1794
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Hypertelorism, Telecanthus, Opacification of the corneal stroma, Micr... OMIM:601499
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, Hypoplasia of the fovea,... ORPHA:55
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Chromosome 5P13 Duplication Syndrome
Upslanted palpebral fissure, Hypotelorism, Epicanthus, Hypertelorism, Short palpebral fissure, Pr... OMIM:613174
Retinoblastoma
Retinal calcification, Abnormality of retinal pigmentation, Hypopyon, Subretinal pigment epitheli... ORPHA:790
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Miosis, Iris coloboma, Retinal detach... OMIM:212550
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Optic disc coloboma, Iris coloboma OMIM:169550
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Ret... OMIM:193235
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Congenital Microcoria
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... ORPHA:566
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Retinal capillary hemangioma, Vitre... ORPHA:71213
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse eyelashes, Downslanted palpebral fissures, Distichiasis, Cataract, Opacification of the co... OMIM:211370
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Noonan Syndrome 9
Ptosis, Prolonged prothrombin time, Hypertelorism, Sparse eyebrow, Downslanted palpebral fissures... OMIM:616559
Neovascular Glaucoma
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... ORPHA:94058
Pituitary Apoplexy
Mydriasis, Hypertension, Hypotension, Ptosis ORPHA:95613
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Chorioretinal coloboma, Proptosis, Iris coloboma OMIM:617662
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Corneal... OMIM:618815
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Ma... OMIM:270200
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Sclerocornea, Iris coloboma, Cataract, Pigmentary retinopathy, Arrhy... OMIM:309801
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Telecanthus, Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Proteus-Like Syndrome
Limbal dermoid, Downslanted palpebral fissures, Heterochromia iridis, Abnormal pupil morphology, ... ORPHA:2969
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys ORPHA:1895
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse and thin eyebrow, Corneal opacity, Blepharitis OMIM:602400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Telecanthus, Developmental glaucoma ORPHA:1064
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Retinitis Pigmentosa 60
Pallor OMIM:613983
Albinism-Deafness Syndrome
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... ORPHA:998
Scheie Syndrome
Aortic regurgitation, Corneal opacity, Aortic valve stenosis, Retinal degeneration OMIM:607016
Noonan Syndrome 4
Blue irides, Hypertrophic cardiomyopathy, Ptosis, Bilateral ptosis, Hypertelorism, Epicanthus, Do... OMIM:610733
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Van Den Ende-Gupta Syndrome
Sclerocornea, Blepharophimosis, Abnormal eyebrow morphology OMIM:600920
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Upslanted palpebral fissure, Hand tremor, Epicanthus, Deeply set eye, Cafe-au-lait spot ORPHA:3041
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Upslanted palpebral fissure, Optic nerve hypoplasia, ... ORPHA:496790
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Aortic regurgitation, Aortic valve stenosis OMIM:252605
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Highly arched eyebrow, Long eyelashes, Long palpebral fissure, Proptosis ORPHA:411493
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Ptosis, White hair, Telecanthus, White eyelashes, Heterochromia iridi... ORPHA:894
Waardenburg Syndrome, Type 2E
Blue irides, Hypopigmented skin patches, Hypoplasia of the iris, Ocular albinism, Hypopigmentatio... OMIM:611584
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion, Conjunctivitis ORPHA:411777
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Optic atrophy, Ptosis, Sclerocornea, Hypertelorism, Epicanthus, Downslante... ORPHA:280
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Corneal opacity, Proptosis OMIM:618961
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Microcornea, Epicanthus ORPHA:2536
Arachnoid Cyst
Mydriasis, Subarachnoid hemorrhage, Ptosis ORPHA:2356
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension, Retinal detachment, Leukocoria OMIM:219250
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ptosis, Ectopia lentis, Iris coloboma, Palpebral edema ORPHA:1259
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Alagille Syndrome
Hypertension, Hypertelorism, Telangiectasia of the skin, Downslanted palpebral fissures, Corneal ... ORPHA:52
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Proptosis, Cataract ORPHA:90653
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, L... OMIM:613266
Cocaine Intoxication
Mydriasis, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tach... ORPHA:90068
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis, Hypertension, Retinal infarction, Pulmonary arterial hypertension OMIM:613834
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma ORPHA:139450
Trisomy 12P
Hypertelorism, Epicanthus, Aplasia/Hypoplasia of the iris, Thick eyebrow, Proptosis ORPHA:1699
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Posterior embryotoxon, Axenfeld anomaly, Hypertelorism, Telecanthus, Peters anoma... OMIM:612582
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Oculoectodermal Syndrome
Limbal dermoid, Hypertrophic cardiomyopathy, Eyelid coloboma, Hyperpigmentation of the skin, Asti... OMIM:600268
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Dilated cardiomyopathy, Abnormality of retinal pigmentation, Hypertro... ORPHA:2556
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Zellweger Syndrome
Optic atrophy, Posterior embryotoxon, Upslanted palpebral fissure, Brushfield spots, Epicanthus, ... ORPHA:912
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Warburg-Cinotti Syndrome
Decreased corneal thickness, Narrow palpebral fissure, Symblepharon, Retinal dystrophy, Epicanthu... OMIM:618175
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Retinal dystrophy, Cataract OMIM:263100
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Hypertelorism, Downslanted palpebral fissures OMIM:601853
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Hypoplasia of the fovea, Ocular albinism, Freckling, Hypopigmenta... ORPHA:79431
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Proptosis, Cataract OMIM:617481
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Noonan Syndrome 13
Blue irides, Highly arched eyebrow, Broad eyebrow, Almond-shaped palpebral fissure, Mitral regurg... OMIM:619087
Alternating Hemiplegia Of Childhood
Mydriasis, Abnormal T-wave, Thin eyebrow, Cardiac conduction abnormality, Cardiomyopathy, Tremor,... ORPHA:2131
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Partial albinism, Ocular albinism, Epistaxis, Long eyelashes, Car... ORPHA:79430
Duane Retraction Syndrome
Hypopigmented skin patches, Patchy hypopigmentation of hair, Chorioretinal coloboma, Ptosis, Anir... ORPHA:233
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albi... OMIM:203100
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Cat-Eye Syndrome
Hypertelorism, Chorioretinal coloboma, Downslanted palpebral fissures, Iris coloboma ORPHA:195
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Upslanted palpebral fissure, Corneal dystrophy, Rod-cone dystrophy, Short palpebral fissure, Deep... OMIM:617763
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Ptosis, Hypertelorism, Telecanthus, Epicanthus, Downslanted palpebral fiss... ORPHA:2995
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Anisocoria
Anisocoria OMIM:106240
Sturge-Weber Syndrome
Optic atrophy, Conjunctival telangiectasia, Corneal dystrophy, Iris coloboma, Heterochromia iridi... ORPHA:3205
Juvenile Nephropathic Cystinosis
Hypovolemia, Abnormal cornea morphology, Corneal crystals ORPHA:411634
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Donnai-Barrow Syndrome
Hypoplasia of the iris, Retinal dystrophy, Hypertelorism, Downslanted palpebral fissures, Iris co... OMIM:222448
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Albinism, Ocular, Type I
Depigmented fundus, Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Norrie Disease