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
abnormal placement of pupils Diaph3tm1b(KOMP)Mbp HET Late adult 1.08×10-06
preweaning lethality, complete penetrance Diaph3tm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal embryo turning Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00
abnormal craniofacial morphology Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
eyelids fail to open Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
irregularly shaped pupil Diaph3tm1b(KOMP)Mbp HET Late adult 6.91×10-07
narrow eye opening Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
eye hemorrhage Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
abnormal eyelid morphology Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
abnormal iris pigmentation Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
increased mean corpuscular hemoglobin concentration Diaph3tm1b(KOMP)Mbp HET   Early adult 7.78×10-06
impaired pupillary reflex Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
corneal deposits Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
decreased mean corpuscular volume Diaph3tm1b(KOMP)Mbp HET Early adult 5.27×10-05
abnormal iris morphology Diaph3tm1b(KOMP)Mbp HET Late adult 4.66×10-07
embryonic growth retardation Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
sclerocornea Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
abnormal cornea morphology Diaph3tm1b(KOMP)Mbp HET Late adult 1.57×10-06
corneal vascularization Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
embryonic growth retardation Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00
exophthalmos Diaph3tm1b(KOMP)Mbp HET Late adult 3.59×10-07
abnormal iris transillumination Diaph3tm1b(KOMP)Mbp HET Late adult 1.81×10-07
abnormal embryo size Diaph3tm1b(KOMP)Mbp HOM E9.5 0.00
decreased circulating free fatty acids level Diaph3tm1b(KOMP)Mbp HET Early adult 2.14×10-07
mydriasis Diaph3tm1b(KOMP)Mbp HET Late adult 5.26×10-13
abnormal pericardium morphology Diaph3tm1b(KOMP)Mbp HOM E12.5 0.00
corneal opacity Diaph3tm1b(KOMP)Mbp HET Late adult 1.33×10-06
decreased circulating triglyceride level Diaph3tm1b(KOMP)Mbp HET Early adult 3.19×10-06
pallor Diaph3tm1b(KOMP)Mbp HOM E12.5 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

13 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Gross Morphology Embryo E9.5

Images

4 Images

Gross Morphology Embryo E12.5

Images

4 Images

Eye Morphology

Images Ophthalmoscopy

2 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
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis OMIM:620086
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Horner Syndrome, Congenital
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis OMIM:143000
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Narrow palpebral ... OMIM:615145
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat... OMIM:619947
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Progressive Hemifacial Atrophy
Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis, Ptosis ORPHA:1214
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... OMIM:309300
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Microphthalmia, Syndromic 16
Ankyloblepharon, Sclerocornea OMIM:611038
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Galactosialidosis
Cherry red spot of the macula, Corneal opacity 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
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... OMIM:602482
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Dermoids Of Cornea
Corneal opacity OMIM:304730
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Intestinal Botulism
Ptosis, Mydriasis ORPHA:178481
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Toxin-Mediated Infectious Botulism
Ptosis, Mydriasis ORPHA:230800
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... OMIM:608470
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos OMIM:615877
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Wound Botulism
Ptosis, Cardiac arrest, Mydriasis ORPHA:178475
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Iatrogenic Botulism
Ptosis, Orthostatic hypotension, Mydriasis ORPHA:254509
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Distal Deletion 6P
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Anteri... ORPHA:96125
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Woolly Hair
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars... ORPHA:170
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Hypertelorism, Blepha... ORPHA:284160
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Kleeblattschaedel
Proptosis, Recurrent corneal erosions OMIM:148800
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Ocular Cystinosis
Corneal crystals ORPHA:411641
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Oliver-Mcfarlane Syndrome
Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration OMIM:275400
Juvenile Xanthogranuloma
Hyphema, Uveitis, Asymmetry of iris pigmentation, Proptosis, Iritis, Multiple cafe-au-lait spots,... ORPHA:158000
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Waardenburg Syndrome Type 2
Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi... ORPHA:895
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity, Hypertelorism ORPHA:1532
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Inhalational Botulism
Ptosis, Mydriasis ORPHA:254504
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Hypertelorism, Abnormal eyelid morphology, Upper eyelid coloboma, Astigmatism ORPHA:2095
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... OMIM:221900
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Foodborne Botulism
Ptosis, Arrhythmia, Mydriasis ORPHA:228371
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral fissure OMIM:618727
Morquio Syndrome C
Corneal opacity OMIM:252300
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,... ORPHA:1390
Infant Botulism
Mydriasis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Ptosis ORPHA:178478
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Hypertelorism, Abnormal pupil morphology, Microcornea, Blepharophimo... ORPHA:3374
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc... ORPHA:1806
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Hypertelorism, Upper eyelid coloboma, ... ORPHA:1791
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conj... OMIM:278730
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... ORPHA:54
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma ORPHA:251038
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Winchester Syndrome
Corneal opacity OMIM:277950
Mucolipidosis Iv
Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration OMIM:252650
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Cataract, Iris hypopigmentation ORPHA:67048
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Sclerocornea, Hypertelorism, Pigmentary retinopathy, Downslanted palpebral ... OMIM:614230
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Orbital cyst OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Proptosis, Retinopathy OMIM:616171
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
2Q24 Microdeletion Syndrome
Cataract, Downslanted palpebral fissures, Abnormality iris morphology, Hypertelorism ORPHA:1617
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Griscelli Syndrome Type 1
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation ORPHA:79476
Miller Fisher Syndrome
Anisocoria, Ptosis, Mydriasis ORPHA:98919
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid OMIM:613001
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Tremor, Hypertension, Abnormality of macular pigmentati... ORPHA:97229
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Lacrimal duct atresia, Ventricular tachycar... OMIM:300952
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
N Syndrome
Megalocornea, Abnormal eyelid morphology ORPHA:2608
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypertelorism, Microcornea, Deeply set eye, Peter... OMIM:243605
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Waardenburg Syndrome, Type 3
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... OMIM:148820
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis, Corneal opacity ORPHA:2370
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Eales Disease
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans... ORPHA:40923
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Botulism
Arrhythmia, Mydriasis ORPHA:1267
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Short Syndrome
Posterior embryotoxon, Telecanthus, Corneal opacity, Hypertelorism, Abnormal pupil morphology, Hy... ORPHA:3163
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... ORPHA:3214
Deafness-Hypogonadism Syndrome
Congenital stationary night blindness, Epicanthus, Heterochromia iridis, Hypertelorism ORPHA:90646
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Hypertelorism, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Dow... OMIM:602562
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Telecanthus, Hypertelorism, Proptosis, Absent extraocular muscles, Abnormally pro... OMIM:109120
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis OMIM:617388
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Harel-Yoon Syndrome
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Deeply set e... OMIM:617183
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Ptosis OMIM:300915
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Hypert... ORPHA:85194
Woolly Hair Nevus
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal... OMIM:175780
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... ORPHA:2119
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes,... ORPHA:79432
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... ORPHA:42775
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Phenylketonuria
Fair hair, Generalized hypopigmentation, Cataract, Blue irides OMIM:261600
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Generalized hypopigmentation OMIM:617306
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma OMIM:256540
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... OMIM:152950
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Trisomy 9P
Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fissures, Hypertelorism ORPHA:236
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Acrofrontofacionasal Dysostosis
Hypertelorism, Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebr... ORPHA:1784
Apolipoprotein A-I Deficiency
Xanthelasma, Angina pectoris, Opacification of the corneal stroma ORPHA:425
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris... OMIM:619172
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Hypertelorism, Brushfield spots, Optic nerve dysplasia, Up... OMIM:214110
Wyburn-Mason Syndrome
Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Proptosis, Retinal vascular malformation... ORPHA:53719
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Hypertelorism, Proptosis, Downslanted palpebral fissures, ... ORPHA:2143
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Proptosis ORPHA:85172
Waardenburg Syndrome, Type 1
Telecanthus, White eyelashes, White eyebrow, Partial albinism, Hypertelorism, Synophrys, Blue iri... OMIM:193500
Serotonin Syndrome
Tachycardia, Tremor, Hypertension, Hypotension, Mydriasis ORPHA:43116
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Tonne-Kalscheuer Syndrome
Hypertelorism, Tremor, Blue irides, Hypotelorism, Downslanted palpebral fissures OMIM:300978
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip... OMIM:614077
Crouzon Syndrome
Hypertelorism, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Proptosis, Conjuncti... ORPHA:207
Tangier Disease
Ectropion, Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion OMIM:205400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Ectopia pupillae, Pulmonic stenosis, Hypertelorism OMIM:618223
Axenfeld-Rieger Syndrome, Type 2
Telecanthus, Hypertelorism, Microcornea, Opacification of the corneal stroma, Anterior chamber sy... OMIM:601499
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Cat-Eye Syndrome (Type I)
Downslanted palpebral fissures, Iris coloboma DECIPHER:42
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Hypertelorism OMIM:244600
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... ORPHA:1794
Craniotubular Dysplasia, Ikegawa Type
Epicanthus, Optic neuropathy, Hypertelorism, Optic atrophy, Proptosis, Optic nerve compression, M... OMIM:619727
Cherubism
Macular scar, Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil OMIM:118400
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium OMIM:619339
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Noonan Syndrome 9
Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Prolonged prothrombin time, Pulmon... OMIM:616559
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis ORPHA:1259
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... OMIM:618815
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Prolonged bleeding time, Epistaxis, Albinism, Ocular albinism, Iris tran... OMIM:614074
Congenital Microcoria
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... ORPHA:566
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Chromosome 6Pter-P24 Deletion Syndrome
Epicanthus, Telecanthus, Hypertelorism, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly,... OMIM:612582
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis OMIM:613834
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Hypertelorism, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of... OMIM:614195
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, De... ORPHA:496790
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Pituitary Apoplexy
Ptosis, Hypertension, Hypotension, Mydriasis ORPHA:95613
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv... OMIM:193235
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... ORPHA:71213
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Proteus-Like Syndrome
Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d... ORPHA:2969
Alexander Disease
Microcoria OMIM:203450
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus ORPHA:1064
Noonan Syndrome 4
Abnormal bleeding, Epicanthus, Hypertelorism, Sparse eyebrow, Bilateral ptosis, Blue irides, Pulm... OMIM:610733
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys ORPHA:1895
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H... OMIM:309801
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Synophrys, White hair, Hyp... ORPHA:894
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proptosis, Corneal opacity OMIM:166300
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus OMIM:245900
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Epicanthus, Blue irides, Hand tremor, Upslanted palpebral fissure, Deeply set eye, Cafe-au-lait spot ORPHA:3041
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Optic atrophy, Proptosis, Long eyelashes, Long palpebral fissure ORPHA:411493
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion ORPHA:411777
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma ORPHA:139450
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Gomez-Lopez-Hernandez Syndrome
Downslanted palpebral fissures, Opacification of the corneal stroma, Hypertelorism OMIM:601853
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Thin eyebrow, Dystonia, ... ORPHA:2131
Stickler Syndrome Type 1
Retinal detachment, Cataract, Proptosis, Abnormal vitreous humor morphology ORPHA:90653
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Abnormal eyelash morph... ORPHA:2399
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Leukocoria, Telangiectasia OMIM:219250
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Proptosis, Corneal opacity, Hypertelorism OMIM:618961
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Trisomy 12P
Epicanthus, Hypertelorism, Aplasia/Hypoplasia of the iris, Proptosis, Thick eyebrow ORPHA:1699
Wolf-Hirschhorn Syndrome
Epicanthus, Sclerocornea, Highly arched eyebrow, Hypertelorism, Optic atrophy, Proptosis, Retinop... ORPHA:280
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure OMIM:619869
Arachnoid Cyst
Ptosis, Subarachnoid hemorrhage, Mydriasis ORPHA:2356
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Chromosome 5P13 Duplication Syndrome
Epicanthus, Blepharophimosis, Hypertelorism, Hypotelorism, Upslanted palpebral fissure, Astigmati... OMIM:613174
Alagille Syndrome
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Hypertelorism, Abnormal pupil morphol... ORPHA:52
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy, Proptosis OMIM:617481
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Blue irides, M... OMIM:619087
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Telecanthus, Chorioretinal degeneration OMIM:615458
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Athetosis, Iris hypopigmentation ORPHA:834
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Zellweger Syndrome
Epicanthus, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Optic... ORPHA:912
Oculoectodermal Syndrome
Epicanthus, Transient ischemic attack, Hyperpigmented streaks, Chorioretinal atrophy, Microcornea... OMIM:600268
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Warburg-Cinotti Syndrome
Epicanthus, Retinal dystrophy, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficienc... OMIM:618175
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis OMIM:602400
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... ORPHA:3205
Kid Syndrome
Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun... ORPHA:477
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Palpebral edema, Transient ischemic attack, Highly arched eyebrow, Hyper... ORPHA:2995
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albin... ORPHA:79430
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Cat-Eye Syndrome
Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma, Hypertelorism ORPHA:195
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi... OMIM:614076
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Abnormal nasolacri... ORPHA:2556
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Petechiae, Iris hypopigmen... ORPHA:79477
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Microcornea, Epicanthus ORPHA:2536
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Iris hypopigmentation, Ocular albinism, Athe... ORPHA:2719
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... ORPHA:381
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Proptosis, Optic atrophy, Mydriasis OMIM:259720
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Duane Retraction Syndrome