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Gene: Diaph3 MGI:1927222

Gene Summary

Name:

diaphanous related formin 3

Synonyms:

4930417P13Rik, Diap3, Drf3, mDia2, p134MDia2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal craniofacial morphology	Diaph3^{tm1b(KOMP)Mbp}	HOM	E12.5	0.00
corneal deposits	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
impaired pupillary reflex	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
decreased circulating free fatty acids level	Diaph3^{tm1b(KOMP)Mbp}	HET	Early adult	2.14×10^-07
embryonic growth retardation	Diaph3^{tm1b(KOMP)Mbp}	HOM	E12.5	0.00
abnormal iris morphology	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	4.32×10^-07
abnormal placement of pupils	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.00×10^-06
eyelids fail to open	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
abnormal embryo turning	Diaph3^{tm1b(KOMP)Mbp}	HOM	E9.5	0.00
irregularly shaped pupil	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	6.45×10^-07
corneal opacity	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.23×10^-06
pallor	Diaph3^{tm1b(KOMP)Mbp}	HOM	E12.5	0.00
decreased circulating triglyceride level	Diaph3^{tm1b(KOMP)Mbp}	HET	Early adult	3.19×10^-06
decreased mean corpuscular volume	Diaph3^{tm1b(KOMP)Mbp}	HET	Early adult	5.27×10^-05
eye hemorrhage	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
abnormal iris pigmentation	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
mydriasis	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	4.68×10^-13
preweaning lethality, complete penetrance	Diaph3^{tm1b(KOMP)Mbp}	HOM	Early adult	0.00
abnormal eyelid morphology	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
narrow eye opening	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
exophthalmos	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	3.34×10^-07
abnormal embryo size	Diaph3^{tm1b(KOMP)Mbp}	HOM	E9.5	0.00
abnormal pericardium morphology	Diaph3^{tm1b(KOMP)Mbp}	HOM	E12.5	0.00
abnormal iris transillumination	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
abnormal cornea morphology	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.46×10^-06
increased mean corpuscular hemoglobin concentration	Diaph3^{tm1b(KOMP)Mbp}	HET	Early adult	7.78×10^-06
sclerocornea	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
corneal vascularization	Diaph3^{tm1b(KOMP)Mbp}	HET	Late adult	1.68×10^-07
embryonic growth retardation	Diaph3^{tm1b(KOMP)Mbp}	HOM	E9.5	0.00

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lacZ Expression

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

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

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

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

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

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

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

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

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

3 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Electroretinography 2

Rod and cone PDF

6 Images

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Auditory Brain Stem Response

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

8 Images

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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.

Human diseases associated with Diaph3 (1 diseases)
Human diseases predicted to be associated with Diaph3 (1136 diseases)

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	Matching phenotypes	Source
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, White eyelashes, White eyebrow, Hypopigmentation of the fundus, Het...	OMIM:103500
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o...	OMIM:617319
Anterior Segment Dysgenesis 3	Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Epicanthus, Iris cyst, Ptosis, Hypoplasia of the fovea, Upslanted palpebral fissure	OMIM:620086
Waardenburg Syndrome, Type 2D	Heterochromia iridis, Telecanthus	OMIM:608890
Pupillary Membrane, Persistence Of	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Horner Syndrome, Congenital	Heterochromia iridis, Deeply set eye, Congenital Horner syndrome	OMIM:143000
Microphthalmia, Isolated, With Coloboma 9	Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Hypertelorism,...	OMIM:615145
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter...	OMIM:619947
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe...	OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Hypopigmentation of hair, Corneal opacity, Pers...	ORPHA:1067
Progressive Hemifacial Atrophy	Ptosis, Irregular hyperpigmentation, Heterochromia iridis, Deeply set eye	ORPHA:1214
Keratoendotheliitis Fugax Hereditaria	Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia, Epiretinal membrane	OMIM:148200
Aniridia 1	Ectopia pupillae, Corneal erosion, Bilateral ptosis, Retinal vascular tortuosity, Hypoplasia of t...	OMIM:106210
Exfoliation Syndrome	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ...	ORPHA:171673
Granular Corneal Dystrophy Type Ii	Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ...	ORPHA:98963
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill...	OMIM:309300
Corneal Dystrophy, Endothelial, X-Linked	Corneal dystrophy, Corneal opacity, Band keratopathy	OMIM:300779
Corneal Dystrophy, Groenouw Type I	Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst...	OMIM:217800
Autosomal Dominant Keratitis	Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov...	ORPHA:2334
Uveal Melanoma	Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili...	ORPHA:39044
Vernal Keratoconjunctivitis	Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu...	ORPHA:70476
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Granular Corneal Dystrophy Type I	Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c...	ORPHA:98962
Anterior Segment Dysgenesis 5	Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Dilution, Pigmentary	Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation...	OMIM:126070
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
Thiel-Behnke Corneal Dystrophy	Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor...	ORPHA:98960
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ...	ORPHA:98969
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Cataract-Microcornea Syndrome	Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Albinism, Oculocutaneous, Type Iv	Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides	OMIM:606574
Galactosialidosis	Corneal opacity, Cherry red spot of the macula	ORPHA:351
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Oculocutaneous Albinism Type 6	Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul...	ORPHA:370097
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea	OMIM:217300
Atopic Keratoconjunctivitis	Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci...	ORPHA:163934
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Hypertension, Ectopia pupillae	ORPHA:1885
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Hyper...	OMIM:602482
Congenital Primary Aphakia	Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co...	ORPHA:83461
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Bilateral Acute Depigmentation Of The Iris	Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio...	ORPHA:69736
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	ORPHA:64734
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Optic atrophy, Ptosis, Cataract, Iris coloboma, Corneal opacity, Chorioret...	ORPHA:1473
Waardenburg Syndrome, Type 4B	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:613265
Intestinal Botulism	Ptosis, Mydriasis	ORPHA:178481
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia	ORPHA:99000
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal dystrophy, Palpebral edema, Corneal opacity, Opacification of the cornea...	OMIM:608470
Anterior Segment Dysgenesis 6	Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Toxin-Mediated Infectious Botulism	Ptosis, Mydriasis	ORPHA:230800
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia...	OMIM:619165
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma	OMIM:616428
Wound Botulism	Ptosis, Mydriasis, Cardiac arrest	ORPHA:178475
Waardenburg Syndrome, Type 2B	White forelock, Heterochromia iridis, Premature graying of hair	OMIM:600193
Brittle Cornea Syndrome 2	Keratoglobus, Megalocornea, Bruising susceptibility, Decreased corneal thickness, Corneal perfora...	OMIM:614170
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cryptophthalmos, Epicanthus, Long eyelashes, Microcornea, Cataract, Ectopia pupillae, Sclerocornea	OMIM:615877
Anterior Segment Dysgenesis 2	Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor...	OMIM:610256
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Iatrogenic Botulism	Orthostatic hypotension, Ptosis, Mydriasis	ORPHA:254509
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Dermochondrocorneal Dystrophy	Corneal dystrophy	ORPHA:79149
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Woolly Hair	Abnormal pupil morphology, Abnormal retinal morphology, Sparse lateral eyebrow, Hypopigmentation ...	ORPHA:170
Ring Dermoid Of Cornea	Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma...	OMIM:180550
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Distal Monosomy 6P	Downslanted palpebral fissures, Posterior embryotoxon, Epicanthus, Hypoplasia of the iris, Anteri...	ORPHA:96125
8Q21.11 Microdeletion Syndrome	Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Iris hypopigmentation, Ptosis, Hype...	ORPHA:284160
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Oculoauricular Syndrome	Morning glory anomaly, Rod-cone dystrophy, Posterior embryotoxon, Cone/cone-rod dystrophy, Macula...	OMIM:612109
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Cataract 21, Multiple Types	Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,...	OMIM:610202
Bietti Crystalline Corneoretinal Dystrophy	Retinal degeneration, Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy	OMIM:210370
Kleeblattschaedel	Recurrent corneal erosions, Proptosis	OMIM:148800
Oculocutaneous Albinism Type 1	Depigmented fundus, Iris transillumination defect, Generalized hypopigmentation of hair, Iris hyp...	ORPHA:352731
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Corneal opacity, Ectopia lentis	OMIM:613086
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea	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
Juvenile Xanthogranuloma	Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Proptosis, Hyphema,...	ORPHA:158000
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Oliver-Mcfarlane Syndrome	Central heterochromia, Retinal degeneration, Long eyebrows, Long eyelashes, Pigmentary retinopathy	OMIM:275400
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Corneal opacity, Microcornea	ORPHA:2432
Phacoanaphylactic Uveitis	Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn...	ORPHA:209959
Waardenburg Syndrome, Type 4A	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:277580
Waardenburg Syndrome Type 2	Premature graying of hair, Hypopigmented skin patches, Ptosis, White forelock, Heterochromia irid...	ORPHA:895
Gómez-López-Hernández Syndrome	Telecanthus, Hypertelorism, Corneal opacity	ORPHA:1532
Inhalational Botulism	Ptosis, Mydriasis	ORPHA:254504
Corneal Dystrophy, Meesmann, 1	Corneal dystrophy, Punctate opacification of the cornea	OMIM:122100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph...	OMIM:221900
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Astigmatism, Hypertelorism, Upper eyelid coloboma, Sclerocornea	ORPHA:2095
Foodborne Botulism	Ptosis, Mydriasis, Arrhythmia	ORPHA:228371
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Morquio Syndrome C	Corneal opacity	OMIM:252300
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Subcutaneous hemorrhage	ORPHA:1980
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Unilateral narrow palpebral fissure, Optic atrophy, Astigmatism, Cataract, Ectopia pupillae	OMIM:618727
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment...	ORPHA:2885
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Heterochromia iridis, Premature graying of hair	ORPHA:66633
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Downslanted palpebral fissures, Epicanthus, Synophrys, Abnormality of retinal pigmentation, Ptosi...	ORPHA:1390
Triopia	Abnormal pupil morphology, Abnormal eyebrow morphology, Blepharophimosis, Microcornea, Hypertelor...	ORPHA:3374
Waardenburg Syndrome, Type 2A	Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente...	OMIM:193510
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Infant Botulism	Hypotension, Mydriasis, Cardiac arrest, Keratoconjunctivitis sicca, Hypertension, Ptosis	ORPHA:178478
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dyst...	ORPHA:1806
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Persistent Hyperplastic Primary Vitreous	Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Persistent pupillary membrane...	ORPHA:91495
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c...	ORPHA:708
Frontofacionasal Dysplasia	Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Microcorne...	ORPHA:1791
Xeroderma Pigmentosum, Complementation Group D	Conjunctivitis, Telangiectasia, Entropion, Choreoathetosis, Keratoconjunctivitis sicca, Corneal n...	OMIM:278730
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Giant melanosomes in melanocytes, Abnormal macular morphology, Ocular ...	ORPHA:54
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Lattice Corneal Dystrophy Type I	Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys...	ORPHA:98964
3Q29 Microduplication Syndrome	Downslanted palpebral fissures, Aniridia, Iris coloboma, Cataract, Sclerocornea	ORPHA:251038
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Winchester Syndrome	Corneal opacity	OMIM:277950
Stickler Syndrome Type 2	Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90654
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis	OMIM:251750
Oculocutaneous Albinism Type 3	Hypopigmentation of the skin, Generalized hypopigmentation of hair, Iris hypopigmentation, White ...	ORPHA:79433
Rodrigues Blindness	Sclerocornea, Microcornea	OMIM:268320
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Dystonia	OMIM:252650
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Cardiomyopathy	ORPHA:67048
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Hypertelorism, Catar...	OMIM:614230
2Q24 Microdeletion Syndrome	Downslanted palpebral fissures, Hypertelorism, Cataract, Abnormality iris morphology	ORPHA:1617
Microphthalmia, Isolated, With Coloboma 4	Orbital cyst, Microcornea	OMIM:251505
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Corneal Dystrophy, Epithelial Basement Membrane	Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Proptosis, Optic disc pallor	OMIM:616171
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Norrie Disease	Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ...	OMIM:310600
Griscelli Syndrome Type 1	Retinopathy, Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism	ORPHA:79476
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of the fu...	OMIM:203200
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Isolated Optic Nerve Hypoplasia/Aplasia	Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,...	ORPHA:137902
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Sclerocornea	OMIM:613001
N Syndrome	Megalocornea, Abnormal eyelid morphology	ORPHA:2608
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:615285
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular fibrillation, Ve...	OMIM:300952
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Stromme Syndrome	Deeply set eye, Retinal vascular tortuosity, Optic nerve hypoplasia, Microcornea, Hypertelorism, ...	OMIM:243605
Riboflavin Transporter Deficiency	Iris hypopigmentation, Hypertension, Ptosis, Tremor, Optic disc pallor, Abnormality of macular pi...	ORPHA:97229
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e...	ORPHA:41751
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Exudative Vitreoretinopathy 4	Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo...	OMIM:601813
Waardenburg Syndrome, Type 3	Premature graying of hair, Blepharophimosis, Synophrys, Hypopigmented skin patches, White foreloc...	OMIM:148820
Eales Disease	Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin...	ORPHA:40923
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Short Syndrome	Abnormal pupil morphology, Megalocornea, Deeply set eye, Posterior embryotoxon, Hypoplasia of the...	ORPHA:3163
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Proptosis	ORPHA:2370
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Corneal Endothelial Dystrophy	Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat...	OMIM:217700
Botulism	Mydriasis, Arrhythmia	ORPHA:1267
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin...	ORPHA:85167
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Microcornea	ORPHA:2557
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle, Miosis	OMIM:156600
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmented ski...	ORPHA:3214
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri...	OMIM:601706
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Conjunctivitis, Downslanted palpebral fissures, Synophrys, Long palpebral fissure, Hypertelorism,...	OMIM:602562
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Deafness-Hypogonadism Syndrome	Hypertelorism, Heterochromia iridis, Congenital stationary night blindness, Epicanthus	ORPHA:90646
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c...	OMIM:193220
Axenfeld-Rieger Syndrome, Type 1	Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop...	OMIM:180500
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta...	OMIM:133780
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormally prominent line of Schwalbe, Hypertelorism, Proptosis, Absent extraocul...	OMIM:109120
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis	OMIM:617388
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Dystonia	OMIM:230650
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Microphthalmia, Syndromic 13	Ptosis, Iris coloboma, Chorioretinal coloboma, Microcornea	OMIM:300915
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal hemorrhage, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage, Limb dystonia, P...	OMIM:175780
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Iris transillumination defect, Iris hypopigmentation, White eyelash...	ORPHA:79432
Woolly Hair Nevus	Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane	ORPHA:79414
Hec Syndrome	Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm...	ORPHA:2119
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal opacity, Corneal guttata, Corneal stromal edema	OMIM:613267
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Iris hypopigmentation, Hypertelorism, Cataract, Retinal detachment, ...	ORPHA:85194
Phace Syndrome	Abnormality of the orbital region, Retinal vascular malformation, Lens coloboma, Optic nerve hypo...	ORPHA:42775
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Harel-Yoon Syndrome	Deeply set eye, Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opaci...	OMIM:617183
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Galactosialidosis	Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula	OMIM:256540
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro...	ORPHA:79435
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Trisomy 9P	Abnormal pupil morphology, Downslanted palpebral fissures, Hypertelorism, Deeply set eye	ORPHA:236
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Albinism, Oculocutaneous, Type Vii	Albinism, Iris transillumination defect	OMIM:615179
Phenylketonuria	Fair hair, Cataract, Blue irides, Generalized hypopigmentation	OMIM:261600
Ermine Phenotype	Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ...	ORPHA:999
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology	ORPHA:293621
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Brushfield spots, Epicanthus, Hypertelorism, Cataract, Palpebral edema, Up...	OMIM:214110
Spastic Ataxia-Corneal Dystrophy Syndrome	Developmental cataract, Corneal dystrophy, Optic atrophy	ORPHA:2572
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma, Angina pectoris, Xanthelasma	ORPHA:425
Hermansky-Pudlak Syndrome 11	Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Bruising ...	OMIM:619172
Wyburn-Mason Syndrome	Retinal vascular malformation, Cerebral hemorrhage, Iris hypopigmentation, Epistaxis, Proptosis, ...	ORPHA:53719
Acrofrontofacionasal Dysostosis	Downslanted palpebral fissures, Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Hypopigmente...	ORPHA:1784
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Downslanted palpebral fissures, Retinal fold, Upslanted palpebral fissure, Optic atrophy, Epicant...	OMIM:152950
Late-Onset Retinal Degeneration	Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa...	ORPHA:67042
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Corneal neovascularization	OMIM:615225
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract, Proptosis	ORPHA:85172
Mucoepithelial Dysplasia, Hereditary	Keratoconjunctivitis, Corneal neovascularization, Cataract, Opacification of the corneal stroma, ...	OMIM:158310
Intermediate Uveitis	Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Vas...	ORPHA:279914
Donnai-Barrow Syndrome	Downslanted palpebral fissures, Retinal dystrophy, Iris coloboma, Hypertelorism, Proptosis, Retin...	ORPHA:2143
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Ocular albinism, Albinism, Generalized hypopigmentation, Bruising ...	OMIM:614077
Waardenburg Syndrome, Type 1	Premature graying of hair, Blepharophimosis, Synophrys, White eyelashes, White eyebrow, Hypoplast...	OMIM:193500
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Prolonged QT interval, Arrhythmia	ORPHA:2151
Tangier Disease	Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion, Ectropion	OMIM:205400
Crouzon Syndrome	Conjunctivitis, Melanocytic nevus, Optic atrophy, Hypopigmented skin patches, Ptosis, Hypertelori...	ORPHA:207
Serotonin Syndrome	Hypotension, Mydriasis, Hypertension, Tremor, Tachycardia	ORPHA:43116
Keratoconus Posticus Circumscriptus	Hypertelorism, Keratoconus, Central posterior corneal opacity	OMIM:244600
Axenfeld-Rieger Syndrome, Type 2	Anterior chamber synechiae, Microcornea, Hypertelorism, Opacification of the corneal stroma, Tele...	OMIM:601499
Cat-Eye Syndrome (Type I)	Downslanted palpebral fissures, Iris coloboma	DECIPHER:42
Craniotubular Dysplasia, Ikegawa Type	Optic nerve compression, Optic atrophy, Mydriasis, Epicanthus, Hypertelorism, Proptosis, Optic ne...	OMIM:619727
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypertelorism, Epicanthus, Pulmonic stenosis, Ectopia pupillae	OMIM:618223
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia of the eyebrow, Abnormal eyelid morphology, Corneal opacity, Abnormal eyelash ...	ORPHA:1794
Cherubism	Marcus Gunn pupil, Lower eyelid retraction, Macular scar, Proptosis, Optic neuropathy	OMIM:118400
Glaucoma 3, Primary Congenital, E	Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio	OMIM:617272
Bartsocas-Papas Syndrome 2	Ankyloblepharon, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Corneal opacity	OMIM:619339
Tonne-Kalscheuer Syndrome	Downslanted palpebral fissures, Hypertelorism, Tremor, Blue irides, Hypotelorism	OMIM:300978
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif...	OMIM:107250
Pelvis-Shoulder Dysplasia	Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma	OMIM:169550
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Ectopia lentis, Ptosis, Iris coloboma, Palpebral edema	ORPHA:1259
Central Retinal Vein Occlusion	Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg...	ORPHA:411527
Oculocutaneous Albinism	Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ...	ORPHA:55
Noonan Syndrome 9	Downslanted palpebral fissures, Sparse eyebrow, Prominent corneal nerve fibers, Ptosis, Hypertelo...	OMIM:616559
Cataract 9, Multiple Types	Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract	OMIM:604219
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe...	ORPHA:790
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Albinism, Bruising susceptibility, Epistaxis, Hyp...	OMIM:614074
Corneal Dystrophy, Lattice Type Iiia	Lattice corneal dystrophy, Corneal erosion	OMIM:608471
Congenital Microcoria	Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo...	ORPHA:566
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Bra...	OMIM:618815
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Retinal infarction, Hypertension, Mydriasis	OMIM:613834
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Alexander Disease	Microcoria	OMIM:203450
Neovascular Glaucoma	Iris neovascularization, Retinal vascular proliferation, Corneal stromal edema, Abnormal posterio...	ORPHA:94058
Vitreoretinopathy, Neovascular Inflammatory	Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe...	OMIM:193235
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals, Pigmentary retinopathy	ORPHA:411629
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch...	OMIM:614195
Retinal Capillary Malformation	Vitreous hemorrhage, Retinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters...	ORPHA:71213
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Pituitary Apoplexy	Hypotension, Ptosis, Hypertension, Mydriasis	ORPHA:95613
Proteus-Like Syndrome	Abnormal pupil morphology, Downslanted palpebral fissures, Irregular hyperpigmentation, Limbal de...	ORPHA:2969
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
Scheie Syndrome	Aortic regurgitation, Retinal degeneration, Corneal opacity, Aortic valve stenosis	OMIM:607016
Waardenburg Syndrome, Type 2E	Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Hypoplasia of the iris, Iris hypop...	OMIM:611584
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Deeply set eye, Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Cataract, Cor...	ORPHA:496790
Piebaldism	Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock...	ORPHA:2884
Congenital Hereditary Endothelial Dystrophy Type Ii	Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co...	ORPHA:293603
Noonan Syndrome 4	Downslanted palpebral fissures, Sparse eyebrow, Bilateral ptosis, Epicanthus, Abnormal bleeding, ...	OMIM:610733
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Telecanthus, Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Chromosome 6Pter-P24 Deletion Syndrome	Short palpebral fissure, Telecanthus, Downslanted palpebral fissures, Telangiectasia, Posterior e...	OMIM:612582
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys	ORPHA:1895
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Iris coloboma, Peters anomaly, Cataract, Junctional ectopic tachycar...	OMIM:309801
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin	ORPHA:3319
Waardenburg Syndrome Type 1	Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,...	ORPHA:894
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia...	ORPHA:998
Lecithin:Cholesterol Acyltransferase Deficiency	Corneal arcus	OMIM:245900
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract	OMIM:619649
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Corneal opacity, Proptosis	OMIM:166300
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Deeply set eye, Cafe-au-lait spot, Epicanthus, Hand tremor, Blue irides, Upslanted palpebral fissure	ORPHA:3041
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract	OMIM:610092
Epithelial Recurrent Erosion Dystrophy	Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit...	ORPHA:293381
Hypercholesterolemia, Familial, 3	Corneal arcus, Xanthelasma	OMIM:603776
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Long eyelashes, Long palpebral fissure, Proptosis, Highly arched eyebrow	ORPHA:411493
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Telangiectasia, Hypertension, Leukocoria	OMIM:219250
Generalized Eruptive Keratoacanthoma	Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion	ORPHA:411777
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ...	ORPHA:79434
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic...	OMIM:616689
Hypercholesterolemia, Familial, 1	Corneal arcus, Xanthelasma	OMIM:143890
Arachnoid Cyst	Ptosis, Subarachnoid hemorrhage, Mydriasis	ORPHA:2356
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Lipomas of eyelids, Lacrimal punctal atresia, Hypertelorism, Cataract, Abnormal e...	ORPHA:2399
Gomez-Lopez-Hernandez Syndrome	Downslanted palpebral fissures, Hypertelorism, Opacification of the corneal stroma	OMIM:601853
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Stickler Syndrome Type 1	Retinal detachment, Abnormal vitreous humor morphology, Proptosis, Cataract	ORPHA:90653
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma, Lacrimal duct atresia	ORPHA:139450
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Mydriasis, Thin eyebrow, Choreoathetosis, Tremor, Cardiac conduction abnormality...	ORPHA:2131
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia	OMIM:608898
Chromosome 5P13 Duplication Syndrome	Short palpebral fissure, Epicanthus, Blepharophimosis, Long palpebral fissure, Astigmatism, Hyper...	OMIM:613174
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Hypertelorism, Proptosis	OMIM:618961
Alagille Syndrome	Abnormal pupil morphology, Downslanted palpebral fissures, Deeply set eye, Hypertension, Hypertel...	ORPHA:52
Coats Disease	Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm...	ORPHA:190
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Narrow palpebral fissure, Cataract, Optic disc pallor, Sclerocornea	OMIM:619869
Wolf-Hirschhorn Syndrome	Downslanted palpebral fissures, Retinopathy, Megalocornea, Optic atrophy, Epicanthus, Ptosis, Hyp...	ORPHA:280
Trisomy 12P	Epicanthus, Aplasia/Hypoplasia of the iris, Hypertelorism, Proptosis, Thick eyebrow	ORPHA:1699
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Chorioretinal degeneration, Posterior subcapsular cataract, Telecanthus, Microcornea	OMIM:615458
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Waardenburg Syndrome, Type 4C	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:613266
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Warburg-Cinotti Syndrome	Epicanthus, Blepharophimosis, Retinal dystrophy, Limbal stem cell deficiency, Narrow palpebral fi...	OMIM:618175
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Limbal dermoid, Microcornea, Astigmatism, Hypertrophic car...	OMIM:600268
Retinopathy Of Prematurity	Vitreous hemorrhage, Tractional retinal detachment, Abnormal macular morphology, Retinal arteriol...	ORPHA:90050
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation, Athetosis	ORPHA:834
Zellweger Syndrome	Brushfield spots, Posterior embryotoxon, Optic atrophy, Epicanthus, Abnormal chorioretinal morpho...	ORPHA:912
Cocaine Intoxication	Hypotension, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia...	ORPHA:90068
Oculocutaneous Albinism Type 1A	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ...	ORPHA:79431
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Corneal opacity, Curly eyelashes, Sparse eyelashes, Blepharitis	OMIM:602400
Hermansky-Pudlak Syndrome	Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye...	ORPHA:79430
Cat-Eye Syndrome	Downslanted palpebral fissures, Hypertelorism, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Kid Syndrome	Conjunctivitis, Sparse eyebrow, Corneal erosion, Limbal stem cell deficiency, Keratoconjunctiviti...	ORPHA:477
Sturge-Weber Syndrome	Pulmonary embolism, Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telan...	ORPHA:3205
Hypercholesterolemia, Familial, 2	Corneal arcus, Xanthelasma	OMIM:144010
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Proptosis, Optic atrophy	OMIM:617481
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Hermansky-Pudlak Syndrome 7	Ocular albinism, Post-partum hemorrhage, Albinism, Bruising susceptibility, Epistaxis, Menorrhagi...	OMIM:614076
Microphthalmia With Linear Skin Defects Syndrome	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormality of skin pigmenta...	ORPHA:2556
Noonan Syndrome 13	Downslanted palpebral fissures, Cafe-au-lait spot, Epicanthus, Broad eyebrow, Multiple lentigines...	OMIM:619087
Fuchs Endothelial Corneal Dystrophy	Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci...	ORPHA:98974
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Epicanthus, Microcornea	ORPHA:2536
Piebald Trait	Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti...	OMIM:172800
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Albinism, Astigmatism, Hypoplasia of the fovea, Hypopigmentation of hair, Blue i...	OMIM:203100
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Optic disc pallor, Proptosis, Optic atrophy	OMIM:259720
Duane Retraction Syndrome	Abnormal pupil morphology, Short palpebral fissure, Irregular hyperpigmentation, Blepharospasm, D...	ORPHA:233
Oculocerebral Hypopigmentation Syndrome, Cross Type	Choroideremia, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Cataract, Cornea...	ORPHA:2719
Hepatic Lipase Deficiency	Corneal arcus, Angina pectoris	OMIM:614025
Juvenile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals, Hypovolemia	ORPHA:411634
Griscelli Syndrome	Abnormal eyebrow morphology, Premature graying of hair, Iris hypopigmentation, Hypopigmented skin...	ORPHA:381
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex	OMIM:615147
Griscelli Syndrome Type 2	Premature graying of hair, Petechiae, Iris hypopigmentation, Hypopigmentation of hair, Partial al...	ORPHA:79477
Baraitser-Winter Cerebrofrontofacial Syndrome	Downslanted palpebral fissures, Epicanthus, Transient ischemic attack, Long palpebral fissure, Mi...	ORPHA:2995
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Ma...	OMIM:270200
Corneal Dystrophy, Congenital Stromal	Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy	OMIM:610048
Retinoschisis 1, X-Linked, Juvenile	Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M...	OMIM:312700
Norrie Disease	Abnormal pupil morphology, Deeply set eye, Optic atrophy, Hypoplasia of the iris, Hypotelorism, A...	ORPHA:649
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism	OMIM:300500
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Familial Dysautonomia	Abnormal pupil morphology, Corneal erosion, Optic atrophy, Hypertension, Heterochromia iridis, Co...	ORPHA:1764
Bartsocas-Papas Syndrome	Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Corneal...	ORPHA:1234
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Downslanted palpebral fissures, Hypertelorism, Iris coloboma	OMIM:155145
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism, Bruising susceptibility, Epistaxis, Gingival bleeding	ORPHA:352723
Bickerstaff Brainstem Encephalitis	Anisocoria, Ptosis, Mydriasis	ORPHA:79138
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism, Abnormal bleeding, Bruising susceptibility, Epistaxis, Hypoplasia of t...	OMIM:614073
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Erythrokeratodermia Variabilis	Hypermelanotic macule, Cataract, Corneal opacity, Irregular hyperpigmentation	ORPHA:317
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Insensitivity To Pain, Congenital, With Anhidrosis	Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor...	OMIM:256800
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities	Hypertelorism, Megalocornea, Proptosis, Epicanthus	OMIM:618354
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Oculodentodigital Dysplasia, Autosomal Recessive	Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Microcornea, Cataract, Spars...	OMIM:257850
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Hypomelanosis Of Ito	Epicanthus, Macular hypopigmented whorls, streaks, and patches, Hypertelorism, Iris coloboma, Cat...	OMIM:300337
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Mydriasis	OMIM:619351
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy...	OMIM:136800
Vitamin K Antagonist Embryofetopathy	Hypertelorism, Proptosis, Optic atrophy, Cataract	ORPHA:1914
Knobloch Syndrome 1	Horizontal eyebrow, Peripapillary atrophy, Iris transillumination defect, Epicanthus, Macular hyp...	OMIM:267750
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Lagophthalmos, Cone/cone-rod dystrophy, Lingual dystonia, Optic atrophy, Optic disc pallor, Corne...	ORPHA:404454
Waardenburg Syndrome	Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr...	ORPHA:3440
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:290
Hurler-Scheie Syndrome	Corneal opacity, Cardiomyopathy	ORPHA:93476
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Abnormal left ventricular function, Abnormal iris pigmentation	OMIM:132900
Scorpion Envenomation	Mydriasis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, Purpura, C...	ORPHA:466677
Coloboma, Ocular, Autosomal Dominant	Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma...	OMIM:120200
Sialidosis Type 2	Tremor, Corneal opacity, Abnormal macular morphology	ORPHA:87876
Meckel Syndrome	Optic atrophy, Aplasia/Hypoplasia of the iris, Abnormal chorioretinal morphology, Microcornea, Hy...	ORPHA:564
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Hypopigmented skin patches	ORPHA:3453
Smith-Lemli-Opitz Syndrome	Downslanted palpebral fissures, Optic atrophy, Epicanthus, Ptosis, Hypertelorism, Iris coloboma, ...	ORPHA:818
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism	ORPHA:370091
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Ptosis, Hypertelorism, Iris coloboma, Eyelid coloboma, Corneal opacity	ORPHA:1647
Aniridia 2	Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia	OMIM:617141
Mucolipidosis Iii Alpha/Beta	Retinopathy, Hyperopic astigmatism, Retinal degeneration, Aortic regurgitation, Opacification of ...	OMIM:252600
Proboscis Lateralis	Abnormal nasolacrimal system morphology, Epicanthus, Abnormality of the ocular adnexa, Optic nerv...	ORPHA:141099
Facial Spasm	Anisocoria	OMIM:134300
Mowat-Wilson Syndrome	Downslanted palpebral fissures, Deeply set eye, Broad eyebrow, Microcornea, Ptosis, Hypertelorism...	OMIM:235730
Familial Drusen	Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ...	ORPHA:75376
Frontoocular Syndrome	Short palpebral fissure, Epicanthus, Blepharophimosis, Ptosis, Proptosis, Upslanted palpebral fis...	OMIM:605321
Intellectual Developmental Disorder, Autosomal Dominant 26	Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Hypertelorism, Propt...	OMIM:615834
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori...	OMIM:212550
Donnai-Barrow Syndrome	Downslanted palpebral fissures, Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Hyperte...	OMIM:222448
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Wagro Syndrome	Downslanted palpebral fissures, Hypertension, Ptosis, Cataract, Corneal opacity, Aniridia	OMIM:612469
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Hereditary Bullous Dystrophy, Macular Type	Heart murmur, Spotty hypopigmentation, Cataract, Corneal opacity, Hyperpigmentation of the skin	ORPHA:1867
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume	OMIM:620044
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Microcephaly 5, Primary, Autosomal Recessive	Highly arched eyebrow, Proptosis	OMIM:608716
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Abnormality iris morphology, Deeply set eye, Hypotelorism	ORPHA:250999
Usher Syndrome Type 2	Iris hypopigmentation, Cataract	ORPHA:231178
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Oculocerebral Hypopigmentation Syndrome, Preus Type	Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Cataract, White hair	ORPHA:2720
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Splenomegaly	OMIM:612840
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Ir...	ORPHA:231736
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Van Den Ende-Gupta Syndrome	Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Cystinosis, Nephropathic	Hypopigmentation of the skin, Retinopathy, Retinal pigment epithelial mottling, Corneal crystals,...	OMIM:219800
3Mc Syndrome 3	Blepharophimosis, Ptosis, Hypertelorism, Epicanthus inversus, Corneal opacity, Highly arched eyebrow	OMIM:248340
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Upslanted palpebral fissure, Proptosis	OMIM:618492
Familial Pseudohyperkalemia	Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Sclerocornea, Optic nerve hypoplasia	OMIM:206900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Primary Myelofibrosis	Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu...	ORPHA:824
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Exudative retinopathy, Corneal opacity, Retinal detachment, Abnormal...	ORPHA:2788
Pseudo-Torch Syndrome 1	Cataract, Dystonia, Opacification of the corneal stroma, Petechiae	OMIM:251290
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Macular hypoplasia, Albinism, Abnormal bleeding, B...	OMIM:614075
Lacrimoauriculodentodigital Syndrome	Keratoconjunctivitis, Absent lacrimal punctum, Limbal stem cell deficiency, Keratoconjunctivitis ...	ORPHA:2363
Macular Degeneration, Age-Related, 1	Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy...	OMIM:603075
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thick eyebrow	ORPHA:585
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the fundus, Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Wolf-Hirschhorn Syndrome	Rieger anomaly, Epicanthus, Ptosis, Hypertelorism, Iris coloboma, Proptosis, Ectopia pupillae, Hi...	OMIM:194190
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Optic atrophy, Epicanthus, Hypoplasia of the iris, Ptosis, Hypertel...	OMIM:251300
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Rod-cone dystrophy, Microcornea	OMIM:619082
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal...	OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal guttata, Corneal dystrophy	OMIM:610158
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity	OMIM:613153
Hurler Syndrome	Bilateral ptosis, Retinal degeneration, Aortic regurgitation, Hypertelorism, Mitral regurgitation...	OMIM:607014
Xeroderma Pigmentosum	Telangiectasia, Melanocytic nevus, Entropion, Optic atrophy, Ankyloblepharon, Pterygium, Hypopigm...	ORPHA:910
Idiopathic Panuveitis	Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu...	ORPHA:280921
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Angelman Syndrome	Hypopigmentation of the skin, Deeply set eye, Fair hair, Blue irides, Limb tremor	OMIM:105830
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Developmental cataract	OMIM:616603
Alpha-Mannosidosis	Hypertelorism, Corneal opacity, Cataract	ORPHA:61
Mucolipidosis Type Iv	Retinopathy, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:578
Autosomal Recessive Cutis Laxa Type 2A	Downslanted palpebral fissures, Abnormal bleeding, Abnormal cornea morphology, Corneal opacity, A...	ORPHA:357058
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Brushfield spots, Rod-cone dystrophy, Optic atrophy, Epicanthus, Heart mur...	OMIM:614866
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Weill-Marchesani Syndrome 4	Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb...	OMIM:613195
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Posterior subcapsular cataract, Astigmatism, Upslanted palpebral fissure, Proptosis	OMIM:619234
Crouzon Syndrome	Conjunctivitis, Optic atrophy, Hypertelorism, Proptosis, Keratitis, Shallow orbits	OMIM:123500
Brittle Cornea Syndrome 1	Keratoglobus, Epicanthus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Kera...	OMIM:229200
Oligoarticular Juvenile Idiopathic Arthritis	Anterior chamber synechiae, Uveitis, Cataract, Band keratopathy	ORPHA:85410
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Epicanthus, Hypertelorism, Cataract, Upslanted palpebral fissure, Opacification...	OMIM:214100
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Lathosterolosis	Downslanted palpebral fissures, Epicanthus, Microcornea, Ptosis, Cataract, Opacification of the c...	ORPHA:46059
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Cherubism	Proptosis, Optic atrophy	ORPHA:184
Autism Spectrum Disorder Due To Auts2 Deficiency	Short palpebral fissure, Bilateral ptosis, Epicanthus, Hypertelorism, Proptosis, Upslanted palpeb...	ORPHA:352490
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis, Leukocoria	OMIM:180200
Megalocornea-Intellectual Disability Syndrome	Downslanted palpebral fissures, Megalocornea, Epicanthus, Hypoplasia of the iris, Astigmatism, Hy...	ORPHA:2479
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Trichinellosis	Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Abnormal optic nerve morpho...	ORPHA:863
22Q11.2 Deletion Syndrome	Downslanted palpebral fissures, Abnormal eyelid morphology, Posterior embryotoxon, Optic atrophy,...	ORPHA:567
Carpenter Syndrome 1	Optic atrophy, Epicanthus, Pulmonic stenosis, Microcornea, Opacification of the corneal stroma, T...	OMIM:201000
Frias Syndrome	Downslanted palpebral fissures, Hypertelorism, Proptosis, Ptosis	OMIM:609640
Herpes Simplex Virus Stromal Keratitis	Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha...	ORPHA:137599
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Pai Syndrome	Downslanted palpebral fissures, Hypertelorism, Iris coloboma, Telecanthus	ORPHA:1993
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Chorioretinal coloboma	OMIM:611638
Breath-Holding Spells	Pallor	OMIM:607578
Linear Verrucous Nevus Syndrome	Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Developmental And Epileptic Encephalopathy 48	Rod-cone dystrophy, Long eyelashes, Long palpebral fissure, Proptosis, Optic disc pallor	OMIM:617276
Revesz Syndrome	Leukocoria, Fine, reticulate skin pigmentation, Megalocornea, Exudative retinopathy	OMIM:268130
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Sparse eyebrow, Hypertension, Hypertelorism, Cataract, Proptosis...	ORPHA:3472
Angelman Syndrome	Hypopigmentation of the skin, Optic atrophy, Optic disc pallor, Fair hair, Iris hypopigmentation,...	ORPHA:72
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Conjunctivitis, Sparse eyebrow, Sparse eyelashes, Ectropion, Keratitis, Corneal dystrophy, Blepha...	OMIM:308800
Cenani-Lenz Syndrome	Downslanted palpebral fissures, Ptosis, Hypertelorism, Cataract, Ectropion, Proptosis	ORPHA:3258
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Developmental glaucoma, Telecanthus, Aniridia	OMIM:206750
Lateral Meningocele Syndrome	Downslanted palpebral fissures, Epicanthus, Ptosis, Hypertelorism, Iris coloboma, Proptosis	ORPHA:2789
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos...	OMIM:203300
Chediak-Higashi Syndrome	Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Macular hypoplas...	OMIM:214500
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi...	ORPHA:3202
Neuroocular Syndrome	Lagophthalmos, Synophrys, Lens coloboma, Iris coloboma, Peters anomaly, Blue irides, Distichiasis...	OMIM:619539
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Orthostatic hypotension, Optic atrophy, Hyperpigmentation of the skin	OMIM:231550
Pediatric-Onset Graves Disease	Abnormal eyelid morphology, Sinus tachycardia, Congestive heart failure, Hypertension, Tremor, Pa...	ORPHA:525731
Pierson Syndrome	Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi...	OMIM:609049
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Autoimmune Hemolytic Anemia, Cold Type	Pallor	ORPHA:228312
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Reticu...	ORPHA:822
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia	OMIM:259710
Neu-Laxova Syndrome 2	Hypertelorism, Proptosis, Cataract, Ablepharon	OMIM:616038
Axenfeld-Rieger Syndrome	Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Hypertelorism, Abnormal anterior chamber m...	ORPHA:782
Lowry-Maclean Syndrome	Downslanted palpebral fissures, Developmental glaucoma, Megalocornea, Corneal opacity, Proptosis	ORPHA:2409
Leptospirosis	Hypotension, Retinal hemorrhage, Chorioretinitis, Conjunctival hyperemia, Pulmonary hemorrhage, S...	ORPHA:509
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Non-Syndromic Bicoronal Craniosynostosis	Hypertelorism, Proptosis	ORPHA:35099
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Megalocornea-Mental Retardation Syndrome	Downslanted palpebral fissures, Megalocornea, Epicanthus, Hypoplasia of the iris, Hypertelorism, ...	OMIM:249310
Cataract 47	Cataract, Microcornea	OMIM:612018
Plague	Hypotension, Mydriasis, Abnormal bleeding, Arrhythmia, Hematemesis, Tachycardia, Conjunctival hyp...	ORPHA:707
Corneal Dystrophy, Thiel-Behnke Type	Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy	OMIM:602082
Dermatitis, Atopic	Facial erythema, Dry skin, Pallor	OMIM:603165
Cutis Laxa, Autosomal Recessive, Type Iiia	Corneal arcus, Hypertelorism, Cataract, Athetosis, Hypotelorism	OMIM:219150
Marshall Syndrome	Sparse eyebrow, Vitreoretinopathy, Ectopia lentis, Hypertelorism, Cataract, Proptosis, Retinal de...	ORPHA:560
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Walker-Warburg Syndrome	Optic atrophy, Retinal dystrophy, Microcornea, Retinal dysplasia, Iris coloboma, Cataract, Cornea...	ORPHA:899
Congenital Sialidosis Type 2	Telangiectasia, Optic atrophy, Abnormal EKG, Petechiae, Developmental cataract, Hypoplasia of the...	ORPHA:93400
Sialidosis Type 1	Retinopathy, Cataract, Tremor, Corneal opacity, Cherry red spot of the macula	ORPHA:812
Pontocerebellar Hypoplasia, Type 3	Optic disc pallor, Long palpebral fissure, Proptosis, Optic atrophy	OMIM:608027
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Optic Atrophy 1	Pallor	OMIM:165500
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Koolen-De Vries Syndrome	Epicanthus, Blepharophimosis, Iris hypopigmentation, Fair hair, Ptosis, Cataract, Upslanted palpe...	OMIM:610443
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Optic disc pallor, Corneal opacity	ORPHA:309288
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Tetralogy Of Fallot	Proptosis	OMIM:187500
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F...	ORPHA:231222
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Ventricular septal defect, Atrial septal defect, Pallor	ORPHA:49827
Developmental And Epileptic Encephalopathy 75	Optic atrophy, Hypertelorism, Proptosis, Upslanted palpebral fissure, Optic disc pallor, Cardiomy...	OMIM:618437
Collagenoma, Familial Cutaneous	Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu...	OMIM:115250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Growth delay, Pallor	OMIM:613561
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Farber Disease	Abnormal conjunctiva morphology, Macular degeneration, Corneal opacity, Opacification of the corn...	ORPHA:333
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Tremor, Hypopigmentation of hair	ORPHA:98794
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Ptosis, Orthostatic hypotension	OMIM:615510
Toriello-Lacassie-Droste Syndrome	Short palpebral fissure, Abnormal conjunctiva morphology, Epicanthus, Blepharophimosis, Limbal de...	ORPHA:3339
Anophthalmia Plus Syndrome	Blepharophimosis, Hypertelorism, Iris coloboma, Eyelid coloboma	ORPHA:1104
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Tonic pupil, Slow pupillary light response, Abnormal pupil morphology	ORPHA:90658
Acrodysostosis 1 With Or Without Hormone Resistance	Melanocytic nevus, Optic atrophy, Epicanthus, Hypertelorism, Blue irides	OMIM:101800
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Lower eyelid coloboma, Blepharophimosis, Absent eyelashes, Ankylobleph...	OMIM:263650
Kniest Dysplasia	Lattice retinal degeneration, Bilateral ptosis, Lens luxation, Rhegmatogenous retinal detachment,...	ORPHA:485
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Lcat Deficiency	Corneal opacity	ORPHA:650
Schimke Immunoosseous Dysplasia	Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Hypertension, Asti...	OMIM:242900
Blau Syndrome	Iritis, Hypertension, Uveitis, Pericarditis, Nongranulomatous uveitis, Cystoid macular edema, Cat...	OMIM:186580
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal dystrophy, Corneal guttata	OMIM:609141
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Downslanted palpebral fissures, Pulmonic stenosis, Optic nerve hypoplasia, Astigmatism, Hypertelo...	OMIM:301056
Nail-Patella Syndrome	Lester's sign, Microcornea, Antecubital pterygium, Ptosis, Cataract, Keratoconus, Microphakia	OMIM:161200
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Dural Sinus Malformation	Cerebellar hemorrhage, Subarachnoid hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Sub...	ORPHA:97339
Neurotrophic Keratopathy	Allodynia, Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent c...	ORPHA:137596
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat...	ORPHA:163746
Marfanoid-Progeroid-Lipodystrophy Syndrome	Downslanted palpebral fissures, Deeply set eye, Melanocytic nevus, Keratoconjunctivitis sicca, Hy...	OMIM:616914
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Opacification of the corneal stroma, Mitral regurgitation, Corneal opacity	OMIM:253010
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Blepharophimosis, Upslanted palpebral fissure, Ocular albinism	ORPHA:1352
Goldberg-Shprintzen Megacolon Syndrome	Ptosis, Hypertelorism, Iris coloboma, Sparse eyebrow	ORPHA:66629
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Epicanthus, Blepharophimosis, Narrow palpebral fissure, Congestive ...	OMIM:181270
Cyclic Vomiting Syndrome	Cardiomyopathy, Growth delay, Pallor	OMIM:500007
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Downslanted palpebral fissures, Proptosis, Bruising susceptibility	ORPHA:157965
Edict Syndrome	Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus	OMIM:614303
Acrofrontofacionasal Dysostosis 1	S-shaped palpebral fissures, Optic atrophy, Long eyebrows, Long eyelashes, Ptosis, Hypertelorism,...	OMIM:201180
Holoprosencephaly 11	Synophrys, Thick eyebrow, Proptosis, Hypotelorism	OMIM:614226
Teebi Hypertelorism Syndrome 2	Ptosis, Hypertelorism, Upper eyelid coloboma, Proptosis, Thick eyebrow	OMIM:619736
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Lip telangiectasia, Telangiectasia of the oral mucosa, Telan...	ORPHA:79280
Scheie Syndrome	Aortic regurgitation, Corneal opacity	ORPHA:93474
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Cafe-au-lait spot, Synophrys, Thin eyebrow, Hypertelorism, Corneal opaci...	ORPHA:364577
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Deeply set eye, Optic atrophy, Epicanthus, Broad eyebrow, Pulmonic ste...	ORPHA:261552
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Heart murmur, Narrow palpebral fissure, Hypertelorism, Anisocoria, Highly arched eyebrow	OMIM:618653
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage...	ORPHA:99827
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Megalocornea, Optic atrophy, Optic nerve hypoplasia, Cataract, Retinal detachment...	ORPHA:370959
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia	ORPHA:1068
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Gaucher Disease, Type Iiic	Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Keratoconjunctivitis, Hypopigmented skin patches, Gingival bleeding,...	ORPHA:2907
Neurofibromatosis Type 1	Abnormal eyelid morphology, Melanocytic nevus, Hypertension, Abnormality of retinal pigmentation,...	ORPHA:636
Tetralogy Of Fallot	Proptosis	ORPHA:3303
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Absent eyelashes, Cataract, Proptosis, Hyperpigmentation of the skin	ORPHA:90153
Juvenile Sialidosis Type 2	Cataract, Cherry red spot of the macula, Corneal opacity, Optic atrophy	ORPHA:93399
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyelashes, Corneal neovascularization, Hypertension, Ptosis, Absent eyebrow, Keratitis, Op...	OMIM:308205
Noonan Syndrome 10	Downslanted palpebral fissures, Sparse eyebrow, Cafe-au-lait spot, Epicanthus, Mitral stenosis, P...	OMIM:616564
Apert Syndrome	Downslanted palpebral fissures, Corneal erosion, Optic atrophy, Hypertension, Hypertelorism, Prop...	ORPHA:87
Multiple Synostoses Syndrome 3	Proptosis	OMIM:612961
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Iris coloboma, Chorioretinal coloboma, Retinal coloboma	ORPHA:2921
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma	OMIM:216820
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Frontofacionasal Dysplasia	S-shaped palpebral fissures, Blepharophimosis, Ankyloblepharon, Microcornea, Ptosis, Hyperteloris...	OMIM:229400
Chops Syndrome	Optic atrophy, Synophrys, Long eyelashes, Hypertelorism, Cataract, Proptosis, Thick eyebrow	OMIM:616368
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Deeply set eye, Iris hypopigmentation, Almond-shaped palpebral fiss...	ORPHA:177907
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Abnormal nasolacrimal system morphology, Retinopathy, Abnormal e...	ORPHA:2396
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular...	ORPHA:98870
Mosaic Trisomy 1	Downslanted palpebral fissures, Congenital bilateral ptosis, Opacification of the corneal stroma	ORPHA:1692
Dysbetalipoproteinemia	Corneal arcus, Angina pectoris, Xanthelasma	ORPHA:412
Cutis Laxa, Autosomal Recessive, Type Iie	Downslanted palpebral fissures, Long eyelashes, Highly arched eyebrow, Proptosis	OMIM:619451
Idiopathic Anterior Uveitis	Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle...	ORPHA:280914
Dominant Beta-Thalassemia	Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos...	ORPHA:231226
Hurler-Scheie Syndrome	Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation, Corneal opacity	OMIM:607015
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Ptosis, Hypertelorism, Proptosis, Optic atrophy	ORPHA:93262
Digeorge Syndrome	Short palpebral fissure, Posterior embryotoxon, Blepharophimosis, Hypertelorism, Sclerocornea	OMIM:188400
2Q31.1 Microdeletion Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Synophrys, Ptosis, Hypertelo...	ORPHA:251014
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Beta-Thalassemia Major	Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c...	ORPHA:231214
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Hypopigmentation of the skin, Megalocornea, Epicanthus, Heart murmur, Congestive ...	OMIM:252500
Ichthyosis, Congenital, Autosomal Recessive 4B	Ectropion, Proptosis	OMIM:242500
Sitosterolemia 1	Corneal arcus, Abnormal bleeding, Xanthelasma	OMIM:210250
Cystinosis	Portal hypertension, Retinopathy, Corneal opacity	ORPHA:213
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Keratoconus 9	Decreased corneal thickness, Keratoconus	OMIM:617928
Lathosterolosis	Downslanted palpebral fissures, Epicanthus, Ptosis, Cataract, Opacification of the corneal stroma	OMIM:607330
H Syndrome	Abnormal cardiovascular system physiology, Abnormal eyebrow morphology, Corneal arcus, Facial tel...	ORPHA:168569
Microphthalmia, Syndromic 6	Retinal dystrophy, Orbital cyst, Sclerocornea, Microcornea	OMIM:607932
Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Deeply set eye, Epicanthus, Iris hypopigmentation, Narrow palpebral...	ORPHA:398073
Cinca Syndrome	Papilledema, Proptosis, Uveitis	OMIM:607115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Nail-Patella Syndrome	Antecubital pterygium, Primary congenital glaucoma, Abnormal iris pigmentation, Lester's sign	ORPHA:2614
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea	OMIM:116200
Marburg Hemorrhagic Fever	Hypotension, Hypovolemia, Petechiae, Abnormal bleeding, Uveitis, Bruising susceptibility, Shock, ...	ORPHA:99826
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Upslanted palpebral fissure, Cafe-au-lait spot, Deeply set eye, Proptosis	OMIM:618707
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypertelorism, Long eyelashes, Proptosis	OMIM:618577
Cutis Marmorata Telangiectatica Congenita	Subcutaneous hemorrhage, Leukocoria, Purpura, Multiple cafe-au-lait spots, Telangiectasia of the ...	ORPHA:1556
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macular hypoplasia, Downslanted palpebral fissures, Iris coloboma, Optic atrophy	OMIM:615219
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Hypermyelinated retinal nerve fibers, Hypertelorism, Proptosis, Corneal op...	OMIM:601812
Muenke Syndrome	Downslanted palpebral fissures, Ptosis, Hypertelorism, Proptosis	OMIM:602849
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Kniest Dysplasia	Retinal detachment, Cataract, Proptosis	OMIM:156550
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ptosis, Tremor, Iris atrophy	OMIM:146500
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Short stature, Pallor	OMIM:615631
Visual Impairment And Progressive Phthisis Bulbi	Ptosis, Flat cornea	OMIM:618283
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Hypertelorism, Corneal opacity, Proptosis, Hypermelanotic...	OMIM:259600
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Lethal Osteosclerotic Bone Dysplasia	Proptosis	ORPHA:1832
Pseudoxanthoma Elasticum	Retinal hemorrhage, Restrictive cardiomyopathy, Retinal peau d'orange, Optic disc drusen, Angioid...	OMIM:264800
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Cockayne Syndrome B	Abnormality of skin pigmentation, Deeply set eye, Optic atrophy, Hypoplasia of the iris, Hyperten...	OMIM:133540
Muenke Syndrome	Hypopigmented skin patches, Ptosis, Hypertelorism, Hypopigmentation of hair, Proptosis, Hypermela...	ORPHA:53271
Stuve-Wiedemann Syndrome 1	Short palpebral fissure, Pulmonary arterial hypertension, Deeply set eye, Blotching pigmentation ...	OMIM:601559
Hermansky-Pudlak Syndrome 10	Albinism, Hypotelorism, Dystonia, Ocular albinism	OMIM:617050
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Cataract, Proptosis, Degenerative vitreoretinopathy	ORPHA:1427
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Proptosis, Developmental cataract	ORPHA:1865
Rheumatic Fever	Endocarditis, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pallor, Pericar...	ORPHA:3099
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Pterygium, Hypertelorism, Ca...	ORPHA:2671
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Macular edema, Anterior chamber flare, Posterior synechiae of the anterior c...	ORPHA:91500
Rhizomelic Limb Shortening With Dysmorphic Features	Downslanted palpebral fissures, Proptosis	OMIM:618821
Sanjad-Sakati Syndrome	Astigmatism, Deeply set eye, Corneal opacity	ORPHA:2323
Juvenile Nasopharyngeal Angiofibroma	Epistaxis, Proptosis	ORPHA:289596
Jackson-Weiss Syndrome	Ptosis, Hypertelorism, Proptosis	ORPHA:1540
Moebius Syndrome	Epicanthus, Ptosis, Multiple cafe-au-lait spots, Corneal opacity, Blepharitis	ORPHA:570
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Anisocoria, Head tremor, Abnormal optic nerve morphology, Abnormal pupillary light...	ORPHA:99949
Mucopolysaccharidosis Type 3	Rod-cone dystrophy, Optic atrophy, Reduced left ventricular ejection fraction, Retinal degenerati...	ORPHA:581
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palp...	ORPHA:98754
De Barsy Syndrome	Downslanted palpebral fissures, Deeply set eye, Epicanthus, Abnormal fundus fluorescein angiograp...	ORPHA:2962
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn...	ORPHA:364055
Vici Syndrome	Cardiomyopathy, Hypopigmentation of the skin, Ocular albinism, Macular hypoplasia, Epicanthus, Al...	OMIM:242840
Histiocytosis-Lymphadenopathy Plus Syndrome	Pulmonary arterial hypertension, Downslanted palpebral fissures, Corneal arcus, Facial telangiect...	OMIM:602782
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Downslanted palpebral fissures, Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia...	OMIM:601552
Osteopetrosis, Autosomal Recessive 3	Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis	OMIM:259730
Granulomatosis With Polyangiitis	Conjunctivitis, Retinal hemorrhage, Diffuse alveolar hemorrhage, Uveitis, Localized pulmonary hem...	OMIM:608710
Distal Monosomy 10Q	Downslanted palpebral fissures, Epicanthus, Astigmatism, Proptosis, Upslanted palpebral fissure, ...	ORPHA:96148
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Sparse eyebrow, Epicanthus, Heart murmur, Hypertelorism, Catarac...	OMIM:216340
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palp...	ORPHA:98793
Spinocerebellar Ataxia-Dysmorphism Syndrome	Ptosis, Proptosis, Optic atrophy, Epicanthus	ORPHA:1185
Hypophosphatasia, Childhood	Proptosis	OMIM:241510
Cinca Syndrome	Pseudopapilledema, Purpura, Uveitis, Retrobulbar optic neuritis, Proptosis	ORPHA:1451
Acrocraniofacial Dysostosis	Downslanted palpebral fissures, Ptosis, Proptosis, Hypotelorism	OMIM:201050
Multiple Sulfatase Deficiency	Retinal degeneration, Corneal opacity	OMIM:272200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palp...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palp...	ORPHA:177901
Desbuquois Syndrome	Proptosis, Abnormal eyelash morphology	ORPHA:1425
Lujo Hemorrhagic Fever	Hypotension, Myocarditis, Resting tremor, Purpura, Ecchymosis, Shock, Excessive bleeding after a ...	ORPHA:319213
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, Torticollis, White eyebrow, Hypopigmented skin patches, White forelock, Heteroch...	OMIM:609136
Incontinentia Pigmenti	Pulmonary arterial hypertension, Retinal hemorrhage, Irregular hyperpigmentation, Abnormality of ...	ORPHA:464
Isolated Congenital Alacrima	Conjunctivitis, Corneal erosion, Distichiasis, Lacrimal punctal atresia, Lacrimal gland hypoplasi...	ORPHA:91416
Beta-Thalassemia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:848
Tangier Disease	Ectropion, Corneal opacity	ORPHA:31150
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Hurler Syndrome	Retinopathy, Abnormality of skin pigmentation, Angina pectoris, Hypertension, Corneal opacity, Th...	ORPHA:93473
Prader-Willi Syndrome	Hypopigmentation of the skin, Generalized hypopigmentation, Iris hypopigmentation, Almond-shaped ...	OMIM:176270
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276556
Crouzon Syndrome With Acanthosis Nigricans	Hypertelorism, Melanocytic nevus, Proptosis	OMIM:612247
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Int...	OMIM:609053
Alagille Syndrome 1	Deeply set eye, Posterior embryotoxon, Axenfeld anomaly, Microcornea, Hypertelorism, Cataract, Ch...	OMIM:118450
Cockayne Syndrome A	Abnormality of skin pigmentation, Deeply set eye, Optic atrophy, Retinal atrophy, Retinal pigment...	OMIM:216400
Fucosidosis	Corneal opacity	ORPHA:349
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia	OMIM:613839
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Hermansky-Pudlak Syndrome 2	Generalized hypopigmentation, Epicanthus, Fair hair, Ocular albinism, Albinism, Aberrant melanoso...	OMIM:608233
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Megalocornea, Right bundle branch block, Optic atrophy, Wolff-Parki...	ORPHA:137675
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Gm1 Gangliosidosis	Cardiomyopathy, Optic atrophy, Congestive heart failure, Tremor, Corneal opacity, Generalized dys...	ORPHA:354
Tbck-Related Intellectual Disability Syndrome	Deeply set eye, Epicanthus, Synophrys, Corneal opacity, Upslanted palpebral fissure, Thick eyebro...	ORPHA:488632
Mosaic Trisomy 8	Hypopigmentation of the skin, Deeply set eye, Hypopigmented skin patches, Hypertelorism, Corneal ...	ORPHA:96061
Filippi Syndrome	Dystonia, Proptosis, Optic atrophy	OMIM:272440
Chédiak-Higashi Syndrome	Hypopigmentation of the skin, Iris hypopigmentation, Abnormal bleeding, Large clumps of pigment i...	ORPHA:167
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyebrow, Corneal scarring, Keratoconjunctivitis sicca, Keratitis, Sparse eyelashes, Recurr...	OMIM:148210
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276575
Gillessen-Kaesbach-Nishimura Syndrome	Telecanthus, Hypertelorism, Proptosis, Epicanthus	OMIM:263210
Acrofrontofacionasal Dysostosis 2	Downslanted palpebral fissures, Ptosis, Hypertelorism, Proptosis	OMIM:239710
Superficial Siderosis	Abnormal bleeding, Internal hemorrhage, Anisocoria, Subarachnoid hemorrhage, Persistent bleeding ...	ORPHA:247245
20Q13.33 Microdeletion Syndrome	Downslanted palpebral fissures, Epicanthus, Hematochezia, Hypertelorism, Proptosis, Upslanted pal...	ORPHA:261311
Trisomy 8P	Heart murmur, Astigmatism, Hypertelorism, Heterochromia iridis, Upslanted palpebral fissure	ORPHA:264450
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Corneal opacity	OMIM:163200
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Astigmatism, Hypertelorism, Cataract, Mitral regurgitation, Proptosis, Corn...	ORPHA:309282
Chime Syndrome	Epicanthus, Ptosis, Hypertelorism, Corneal opacity, Upslanted palpebral fissure, Retinal coloboma	ORPHA:3474
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis in the skin, Blepharitis, Subconjunctival hemorrhage, Hematochezia, Vasculitis	OMIM:617718
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276580
Ogden Syndrome	Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Cardiogenic shock, Torticollis...	ORPHA:276432
Periventricular Nodular Heterotopia 7	Hypertelorism, Optic disc pallor, Deeply set eye, Proptosis	OMIM:617201
Oculodentodigital Dysplasia	Deeply set eye, Optic atrophy, Epicanthus, Hypotelorism, Microcornea, Hypertelorism, Cataract, Ar...	ORPHA:2710
Progeria-Short Stature-Pigmented Nevi Syndrome	Hyperpigmented nevi, Cataract, Band keratopathy, Supraventricular arrhythmia	ORPHA:2959
Prolidase Deficiency	Petechiae, Ptosis, Hypertelorism, Proptosis, Diffuse telangiectasia	OMIM:170100
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Mucopolysaccharidosis, Type Vii	Thick eyebrow, Corneal opacity, Cardiomyopathy	OMIM:253220
Ritscher-Schinzel Syndrome 4	Downslanted palpebral fissures, Deeply set eye, Hypertelorism, Proptosis, Athetosis, Hypotelorism	OMIM:619435
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Subconjun...	ORPHA:464329
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Synophrys, Broad eyebrow, Keratoconjunctivitis sicca, Long eyelashes, Optic nerve...	ORPHA:495875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Megalocornea, Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Ret...	OMIM:253280
Shashi-Pena Syndrome	Epicanthus, Synophrys, Long eyelashes, Ptosis, Hypertelorism, Proptosis, Highly arched eyebrow	OMIM:617190
Neonatal Marfan Syndrome	Downslanted palpebral fissures, Megalocornea, Deeply set eye, Heart murmur, Ectopia lentis, Mitra...	ORPHA:284979
Fabry Disease	Mucosal telangiectasiae, Optic atrophy, Transient ischemic attack, Bundle branch block, Telangiec...	ORPHA:324
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis	ORPHA:79303
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse eyebrow, Dacryocystitis, Generalized hypopigmentation, Blepharophimosis, Fair hair, Hypert...	OMIM:129900
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Desbuquois Dysplasia 1	Developmental glaucoma, Proptosis	OMIM:251450
Saul-Wilson Syndrome	Cataract, Proptosis	OMIM:618150
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Megalocornea, Corneal dystrophy, Mitral regurgitation, Abnormal size of the palpebral fissures, A...	ORPHA:1101
Autosomal Dominant Cerebellar Ataxia	Postural tremor, Resting tremor, Retinal degeneration, Macular degeneration, Choreoathetosis, Tor...	ORPHA:99
Wilson Disease	Kayser-Fleischer ring, Bruising susceptibility	ORPHA:905
Mosaic Trisomy 9	Upslanted palpebral fissure, Hypertelorism, Corneal opacity, Hypotelorism	ORPHA:99776
Mullegama-Klein-Martinez Syndrome	Curly eyelashes, Proptosis	OMIM:301022
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Spondylodysplastic Ehlers-Danlos Syndrome	Downslanted palpebral fissures, Megalocornea, Optic nerve hypoplasia, Posterior subcapsular catar...	ORPHA:536471
Schimke Immuno-Osseous Dysplasia	Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, C...	ORPHA:1830
Hemorrhagic Fever-Renal Syndrome	Hypotension, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, Epistaxi...	ORPHA:340
19P13.12 Microdeletion Syndrome	Epicanthus, Synophrys, Aortic regurgitation, Hypertelorism, Mitral regurgitation, Proptosis, Arrh...	ORPHA:254346
Tyshchenko Syndrome	Ptosis, Pulmonic stenosis, Proptosis	OMIM:615102
Blomstrand Lethal Chondrodysplasia	Telecanthus, Cataract, Proptosis	ORPHA:50945
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Cafe-au-lait spot, Synophrys, Thin eyebrow, Hypertelorism, Corneal opaci...	OMIM:608670
Thanatophoric Dysplasia	Downslanted palpebral fissures, Proptosis	ORPHA:2655
Whipple Disease	Hypotension, Uveitis, Generalized hyperpigmentation, Pericarditis, Myocardial infarction, Proptos...	ORPHA:3452
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Ptosis, Proptosis	ORPHA:2522
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Proptosis	ORPHA:2774
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Downslanted palpebral fissures, Melanocytic nevus, Optic atrophy, Hypertension, Ptosis, Hypertelo...	ORPHA:1555
Cornelia De Lange Syndrome 1	Optic atrophy, Synophrys, Long eyelashes, Microcornea, Astigmatism, Ptosis, Proptosis, Curly eyel...	OMIM:122470
Ablepharon Macrostomia Syndrome	Cryptophthalmos, Abnormality of skin pigmentation, Corneal erosion, Absent eyelashes, Ablepharon,...	ORPHA:920
Optic Pathway Glioma	Papilledema, Proptosis, Optic atrophy	ORPHA:2086
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Cockayne Syndrome	Optic atrophy, Retinal atrophy, Keratoconjunctivitis sicca, Action tremor, Band keratopathy, Mios...	ORPHA:191
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Diffuse al...	ORPHA:464321
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Persistent fetal circulation, Epicanthus, Congestive heart failu...	ORPHA:363705
Frank-Ter Haar Syndrome	Downslanted palpebral fissures, Developmental glaucoma, Megalocornea, Cafe-au-lait spot, Buphthal...	OMIM:249420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Megalocornea, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia, Buphthal...	OMIM:236670
Spinocerebellar Ataxia Type 3	Dystonia, Proptosis	ORPHA:98757
Osteolysis Syndrome, Recessive	Proptosis	OMIM:259610
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Generalized hypopigmentation, Blepharophi...	OMIM:604292
Fibrochondrogenesis 1	Megalocornea, Proptosis	OMIM:228520
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Epicanthus, Hypertelorism, Proptosis, Thick eyebrow	OMIM:614800
Fryns Syndrome	Blepharophimosis, Hypertelorism, Narrow palpebral fissure, Opacification of the corneal stroma	OMIM:229850
Myelofibrosis	Purpura, Pallor	OMIM:254450
Localized Scleroderma	Deeply set eye, Raynaud phenomenon, Uveitis, Hypopigmented skin patches, Proptosis, Arrhythmia, V...	ORPHA:90289
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Hypovolemia, Transient ischemic attack, Hypertension, Bruising susceptibility, A...	ORPHA:91387
Mucopolysaccharidosis Type 1	Retinopathy, Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Corneal opacity	ORPHA:579
Down Syndrome	Upslanted palpebral fissure, Brushfield spots, Epicanthus	OMIM:190685
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Autosomal Recessive Distal Osteolysis Syndrome	Proptosis	ORPHA:2776
Evans Syndrome	Petechiae, Pallor	ORPHA:1959
20Q11.2 Microduplication Syndrome	Downslanted palpebral fissures, Lingual dystonia, Epicanthus, Abnormal shape of the palpebral fis...	ORPHA:363659
Fanconi Anemia	Short palpebral fissure, Irregular hyperpigmentation, Abnormal eyelid morphology, Abnormality of ...	ORPHA:84
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Deeply set eye, Lentiglobus, Generalized hypopigmentation, Buphthalmos...	ORPHA:534
Hennekam-Beemer Syndrome	Hypotension, Irregular hyperpigmentation, Abnormality of skin pigmentation, Optic atrophy, Telang...	ORPHA:2135
Weill-Marchesani Syndrome 2	Lens luxation, Pulmonic stenosis, Congestive heart failure, Ectopia lentis, Astigmatism, Shallow ...	OMIM:608328
Focal Dermal Hypoplasia	Abnormality of skin pigmentation, Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Corneal ...	ORPHA:2092
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Proptosis	OMIM:606893
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Cockayne Syndrome Type 3	Retinal hemorrhage, Deeply set eye, Lentiglobus, Premature graying of hair, Retinal atrophy, Reti...	ORPHA:90324
Acrocraniofacial Dysostosis	Downslanted palpebral fissures, Ptosis, Hypertelorism, Proptosis, Telecanthus	ORPHA:949
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Proptosis, Optic atrophy	OMIM:618346
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Aplasia/Hypoplasia of the eyebrow, Deeply set eye, Hypoplastic lacrima...	ORPHA:286
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Mosaic Variegated Aneuploidy Syndrome	Downslanted palpebral fissures, Abnormality of skin pigmentation, Epicanthus, Aortic regurgitatio...	ORPHA:1052
Elsahy-Waters Syndrome	Downslanted palpebral fissures, Megalocornea, Synophrys, Hypertelorism, Cataract, Proptosis, Thic...	OMIM:211380
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Corneal scarring, Blotching pigmentation of the skin, Hypertension, Bradycard...	OMIM:614653
Irida Syndrome	Pallor	ORPHA:209981
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Thrombocytopenia, Neut...	OMIM:600901
Cardiofaciocutaneous Syndrome 1	Optic nerve dysplasia, Downslanted palpebral fissures, Epicanthus, Absent eyelashes, Palpebral th...	OMIM:115150
Distal Monosomy 9P	Upslanted palpebral fissure, Hypertelorism, Proptosis, Epicanthus	ORPHA:1642
Stickler Syndrome	Epicanthus, Uveitis, Ectopia lentis, Astigmatism, Hypertelorism, Cataract, Proptosis, Arrhythmia,...	ORPHA:828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Opacification of the corneal stroma, Retinal dysplasia	OMIM:615287
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Downslanted palpebral fissures, Developmental glaucoma, Hypertelorism, Proptosis, Thick eyebrow	OMIM:245600
Bainbridge-Ropers Syndrome	Downslanted palpebral fissures, Deeply set eye, Epicanthus, Synophrys, Thin eyebrow, Long eyelash...	OMIM:615485
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Carpenter Syndrome	Abnormal cornea morphology	ORPHA:65759
Machado-Joseph Disease	Ptosis, Dystonia, Proptosis	OMIM:109150
Congenital Disorder Of Deglycosylation 1	Ptosis, Hypertelorism, Corneal opacity, Action tremor, Athetosis, Corneal ulceration	OMIM:615273
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormality of the orbital region, Optic nerve compression, Keratoconjunctivitis sicca, Enlarged ...	ORPHA:79078
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Pulmonary insufficiency, Intention tremor, Proptosis, Shallow orbits	OMIM:619322
Graves Disease, Susceptibility To, 1	Congestive heart failure, Proptosis	OMIM:275000
Leishmaniasis	Skin ulcer, Pallor	ORPHA:507
Pseudohypoparathyroidism Type 1A	Conjunctivitis, Choreoathetosis, Hypertension, Cataract, Prolonged QT interval, Laryngeal dystoni...	ORPHA:79443
Arboleda-Tham Syndrome	Conjunctivitis, Lacrimal duct stenosis, Deeply set eye, Optic atrophy, Epicanthus, Thin eyebrow, ...	OMIM:616268
American Trypanosomiasis	Cardiomyopathy, Myocarditis, Pallor	ORPHA:3386
Microhydranencephaly	Athetosis, Proptosis	OMIM:605013
Cerebrotendinous Xanthomatosis	Abnormal eyelid morphology, Resting tremor, Optic atrophy, Hypermyelinated retinal nerve fibers, ...	ORPHA:909
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Thrombocytopenia, Neut...	OMIM:227650
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal scarring, Corneal ulceration	OMIM:616488
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Ptosis, Proptosis	ORPHA:1323
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Developmental And Epileptic Encephalopathy 80	Upslanted palpebral fissure, Hypertelorism, Optic disc pallor, Proptosis	OMIM:618580
Aminopterin/Methotrexate Embryofetopathy	Hypertelorism, Proptosis, Epicanthus	ORPHA:1908
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Melanocytic nevus, Synophrys, Broad eyebrow, Iris coloboma, Juvenile cataract, Thick eyebrow, Iso...	OMIM:619475
Cole-Carpenter Syndrome 2	Downslanted palpebral fissures, Hypertelorism, Proptosis	OMIM:616294
Fanconi Anemia, Complementation Group C	Anemia, Reticulocytopenia, Leukemia, Pancytopenia, Prolonged G2 phase of cell cycle, Thrombocytop...	OMIM:227645
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Growth delay, Pallor	OMIM:600462
Fryns Syndrome	Hypertelorism, Corneal opacity	ORPHA:2059
Hypomandibular Faciocranial Dysostosis	Upslanted palpebral fissure, Downslanted palpebral fissures, Optic disc coloboma, Proptosis	ORPHA:1790
Waldenström Macroglobulinemia	Retinal hemorrhage, Vasculitis, Purpura, Congestive heart failure, Epistaxis, Proptosis, Gingival...	ORPHA:33226
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Deeply set eye, Aortic regurgitation, Astigmatism, Corneal opacity, Retinal detachment, Aortic va...	ORPHA:464311
Proteus Syndrome	Sudden cardiac death, Downslanted palpebral fissures, Pulmonary embolism, Abnormality of skin pig...	ORPHA:744
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Pulmonary arterial hypertension, Downslanted palpebral fissures, Synophrys, Long eyelashes, Conge...	ORPHA:444077
Larsen Syndrome	Corneal opacity, Hypertelorism, Shallow orbits	OMIM:150250
Zygomycosis	Pericarditis, Ptosis, Epistaxis, Retinal arterial occlusion, Proptosis, Chemosis, Retinal detachm...	ORPHA:73263
Incontinentia Pigmenti	Retinal hemorrhage, Abnormality of skin pigmentation, Retinal vascular proliferation, Optic atrop...	OMIM:308300
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Pallor	ORPHA:99931
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia	ORPHA:2169
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Portal hypertension, Ptosis, Hypertelorism, Proptosis	OMIM:613385
Dravet Syndrome	Pallor	ORPHA:33069
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Pontocerebellar Hypoplasia, Type 10	Synophrys, Long eyelashes, Long palpebral fissure, Proptosis, Highly arched eyebrow	OMIM:615803
Antley-Bixler Syndrome	Downslanted palpebral fissures, Hypertelorism, Proptosis	ORPHA:83
Proteasome-Associated Autoinflammatory Syndrome 1	Conjunctivitis, Premature graying of hair, Congestive heart failure, Punctate opacification of th...	OMIM:256040
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypopigmentation of the skin, Depigmentation/hyperpigmentation of skin, Corneal opacity, Hyperpig...	ORPHA:79396
Roberts-Sc Phocomelia Syndrome	Downslanted palpebral fissures, Cafe-au-lait spot, Hypertelorism, Cataract, Eyelid coloboma, Corn...	OMIM:268300
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Kosaki Overgrowth Syndrome	Downslanted palpebral fissures, Ptosis, Proptosis, Xanthelasma	OMIM:616592
Atelosteogenesis Type I	Retinal dysplasia, Hypertelorism, Telecanthus, Proptosis	ORPHA:1190
Kindler Epidermolysis Bullosa	Conjunctivitis, Abnormality of skin pigmentation, Ectropion, Corneal opacity	ORPHA:2908
Mucopolysaccharidosis, Type Vi	Pulmonary arterial hypertension, Pulmonary insufficiency, Tricuspid regurgitation, Sinus tachycar...	OMIM:253200
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Spotty hypopigmentation, Spotty hyperpigmentation, Proptosis, Telecanthus	OMIM:615789
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Proptosis	ORPHA:93359
Chondrodysplasia With Joint Dislocations, Gpapp Type	Proptosis	OMIM:614078
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Beare-Stevenson Cutis Gyrata Syndrome	Downslanted palpebral fissures, Optic atrophy, Hypertension, Ptosis, Hypertelorism, Proptosis	OMIM:123790
Bohring-Opitz Syndrome	Upslanted palpebral fissure, Epicanthus, Hypertelorism, Proptosis, Abnormal optic nerve morphology	OMIM:605039
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Marshall-Smith Syndrome	Bruising susceptibility, Hypertelorism, Proptosis, Optic atrophy	ORPHA:561
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Congenital Disorder Of Glycosylation, Type Iig	Upslanted palpebral fissure, Downslanted palpebral fissures, Hypertelorism, Proptosis	OMIM:611209
Cold Agglutinin Disease	Pallor	ORPHA:56425
Tarp Syndrome	Intrauterine growth retardation, Extramedullary hematopoiesis	ORPHA:2886
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Peripapillary atrophy, Torticollis, Bruising susceptibility, Microcornea, Proptosis	ORPHA:536467
Mucopolysaccharidosis Type 2, Severe Form	Retinopathy, Abnormal foveal morphology, Optic atrophy, Heart murmur, Hypertension, Abnormality o...	ORPHA:217085
Acrodysostosis With Multiple Hormone Resistance	Fair hair, Red hair, Blue irides	ORPHA:280651
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Caffey Disease	Proptosis	ORPHA:1310
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downslanted palpebral fissures, Ptosis, Proptosis, Hypotelorism	ORPHA:2215
Mucopolysaccharidosis Type 2, Attenuated Form	Retinopathy, Abnormal foveal morphology, Optic atrophy, Heart murmur, Hypertension, Abnormality o...	ORPHA:217093
Dyrk1A-Related Intellectual Disability Syndrome	Deeply set eye, Aortic regurgitation, Astigmatism, Corneal opacity, Aortic valve stenosis, Optic ...	ORPHA:464306
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Hyperostosis Cranialis Interna	Proptosis, Optic atrophy	OMIM:144755
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Ecchymosis, Ptosis, Corneal op...	ORPHA:2072
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pulmonary arterial hypertension, Intention tremor, Optic nerve hypoplasia, Prolonged QT interval,...	OMIM:620029
Wiedemann-Rautenstrauch Syndrome	Sparse eyebrow, Downslanted palpebral fissures, Deeply set eye, Entropion, Absent eyelashes, Broa...	OMIM:264090
Autoimmune Hemolytic Anemia	Pallor	ORPHA:98375
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Proptosis	ORPHA:352582
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Conjunctivitis, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Corneal eros...	ORPHA:2273
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Elliptocytosis 1	Pallor	OMIM:611804
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Witteveen-Kolk Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Medial flaring of the eyebrow, Deeply se...	OMIM:613406
Peters Plus Syndrome	Short palpebral fissure, Optic atrophy, Anterior chamber synechiae, Microcornea, Hypertelorism, I...	ORPHA:709
Loeys-Dietz Syndrome 5	Downslanted palpebral fissures, Long palpebral fissure, Bruising susceptibility, Ptosis, Hypertel...	OMIM:615582
Hutchinson-Gilford Progeria Syndrome	Pulmonary arterial hypertension, Left ventricular diastolic dysfunction, Transient ischemic attac...	ORPHA:740
Cole-Carpenter Syndrome 1	Shallow orbits, Proptosis, Orbital craniosynostosis	OMIM:112240
Autosomal Dominant Cutis Laxa	Congestive heart failure, Developmental cataract, Aortic regurgitation, Ptosis, Mitral regurgitat...	ORPHA:90348
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Downslanted palpebral fissures, Deeply set eye, Synophrys, Hypertelorism, Tremor, Proptosis, Naso...	OMIM:300966
Williams Syndrome	Sudden cardiac death, Epicanthus, Aplasia/Hypoplasia of the iris, Retinal arteriolar tortuosity, ...	ORPHA:904
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Limb Body Wall Complex	Lens subluxation, Hypertelorism, Iris coloboma, Corneal opacity	ORPHA:2369
Thanatophoric Dysplasia Type 2	Proptosis	ORPHA:93274
Alacrima, Congenital, Autosomal Dominant	Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia	OMIM:103420
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma, Cyclopia, Chorioretinal coloboma, Proptos...	OMIM:157170
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil...	ORPHA:811
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Proptosis, Telangiectasia of the skin	OMIM:615381
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal hemorrhage, Telangiectasia, Macular edema, Retinal exudate, Punctate vasculitis skin lesi...	OMIM:192315
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Fraser Syndrome 1	Cryptophthalmos, Absent eyelashes, Lacrimal duct aplasia, Malformed lacrimal duct, Hypertelorism,...	OMIM:219000
Okamoto Syndrome	Long palpebral fissure, Astigmatism, Hypertelorism, Ptosis, Proptosis, Aortic valve stenosis	ORPHA:2729
Robinow Syndrome, Autosomal Dominant 3	Epicanthus, Long eyelashes, Hypertelorism, Proptosis, Upslanted palpebral fissure, Telecanthus, T...	OMIM:616894
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Downslanted palpebral fissures, Proptosis	ORPHA:85184
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Nestor-Guillermo Progeria Syndrome	Pulmonary arterial hypertension, Sparse eyebrow, Right bundle branch block, Sinus tachycardia, Hy...	OMIM:614008
Chitayat Syndrome	Hypertelorism, Proptosis	OMIM:617180
Mucopolysaccharidosis Type 2	Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Hypertension, Abnor...	ORPHA:580
Robinow Syndrome, Autosomal Recessive 2	Hypertelorism, Long eyelashes, Proptosis	OMIM:618529
Shprintzen-Goldberg Syndrome	Downslanted palpebral fissures, Ptosis, Hypertelorism, Mitral regurgitation, Proptosis, Telecanthus	ORPHA:2462
Fibrochondrogenesis	Downslanted palpebral fissures, Hypertelorism, Proptosis	ORPHA:2021
Cole-Carpenter Syndrome	Downslanted palpebral fissures, Proptosis	ORPHA:2050
Rift Valley Fever	Retinal hemorrhage, Macular edema, Abnormal bleeding, Uveitis, Retinitis, Retinal vasculitis, Gin...	ORPHA:319251
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Premature graying of hair, Epicanthus, Blepharophimosis, Retinal a...	OMIM:194050
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hypertelorism, Shallow orbits, Proptosis	ORPHA:73230
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Proptosis	OMIM:274300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Downslanted palpebral fissures, Hypertelorism, Proptosis	OMIM:235255
Holoprosencephaly-Caudal Dysgenesis Syndrome	Hypertelorism, Proptosis, Cyclopia	ORPHA:2165
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an...	OMIM:127550
Shprintzen-Goldberg Craniosynostosis Syndrome	Downslanted palpebral fissures, Shallow orbits, Ptosis, Hypertelorism, Proptosis, Telecanthus	OMIM:182212
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
17Q11 Microdeletion Syndrome	Pulmonary arterial hypertension, Downslanted palpebral fissures, Deeply set eye, Retinal vascular...	ORPHA:97685
Proximal Renal Tubular Acidosis	Cataract, Hypovolemia, Band keratopathy	ORPHA:47159
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Prolidase Deficiency	White forelock, Hypertelorism, Proptosis, Abnormality of retinal pigmentation	ORPHA:742
Desbuquois Dysplasia 2	Synophrys, Proptosis, Epicanthus	OMIM:615777
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Downslanted palpebral fissures, Ptosis, Hypertelorism, Eyelid coloboma, Proptosis	ORPHA:2211
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Jackson-Weiss Syndrome	Proptosis	OMIM:123150
Tay-Sachs Disease	Pallor	OMIM:272800
Gaucher Disease	Pulmonary arterial hypertension, Retinopathy, Abnormality of skin pigmentation, Abnormal macular ...	ORPHA:355
Rubinstein-Taybi Syndrome 1	Downslanted palpebral fissures, Deeply set eye, Cafe-au-lait spot, Epicanthus, Broad eyebrow, Lon...	OMIM:180849
Congenital Myopathy 17	Downslanted palpebral fissures, Ptosis, Telecanthus, Proptosis	OMIM:618975
Acrocardiofacial Syndrome	Mitral stenosis, Hypertelorism, Long eyelashes, Proptosis	ORPHA:2008
14Q22Q23 Microdeletion Syndrome	Downslanted palpebral fissures, Epicanthus, Optic nerve aplasia, Ptosis, Hypertelorism, Proptosis	ORPHA:264200
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal hemorrhage, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomeno...	OMIM:611773
Roberts Syndrome	Hypertelorism, Proptosis, Cataract	ORPHA:3103
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi...	ORPHA:124
Baller-Gerold Syndrome	Hypertelorism, Epicanthus, Proptosis, Hypotelorism	ORPHA:1225
Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Thrombocytopenia-Absent Radius Syndrome	Ptosis, Cataract, Prolonged bleeding following circumcision, Corneal opacity	OMIM:274000
Neu-Laxova Syndrome 1	Absent eyelashes, Pterygium, Ablepharon, Hypertelorism, Cataract, Proptosis	OMIM:256520
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Ptosis, Portal hypertension, Proptosis	ORPHA:228426
Robinow Syndrome, Autosomal Dominant 2	Upslanted palpebral fissure, Hypertelorism, Proptosis	OMIM:616331
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Noonan Syndrome	Downslanted palpebral fissures, Melanocytic nevus, Abnormal bleeding, Ptosis, Hypertelorism, Prop...	ORPHA:648
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Heart murmur, Intracranial hemorrhage, Proptosi...	ORPHA:163979
Xylt1-Cdg	Synophrys, Proptosis	ORPHA:370930
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Steatorrhea, Thrombocy...	OMIM:260400
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology	OMIM:244400
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Hypertelorism, Mitral regurgitation, Proptosis, Epicanthus	ORPHA:457395
Retinal Arteries, Tortuosity Of	Retinal hemorrhage, Retinal arteriolar tortuosity	OMIM:180000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Trichohepatoenteric Syndrome 1	Downslanted palpebral fissures, Cafe-au-lait spot, Generalized hypopigmentation, Aortic regurgita...	OMIM:222470
Ogden Syndrome	Pulmonary arterial hypertension, Sparse eyebrow, Downslanted palpebral fissures, Abnormal eyelid ...	OMIM:300855
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Absent anterior chamber of the eye, Exudative retinopathy, Vitreoretinopat...	OMIM:259770
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Pancytopenia, Prolonged G2 phase of cell cycle, Thrombocytopenia, Neut...	OMIM:227646
Donohue Syndrome	Hypermelanotic macule, Proptosis	OMIM:246200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Proptosis	OMIM:617895
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Melanocytic nevus, Synophrys, Hypertension, Optic nerve hypoplas...	OMIM:602535
Sponastrime Dysplasia	Microcoria, Epicanthus, Cataract, Congenital aphakia	ORPHA:93357
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Patchy hypo- and hyperpigmentation, Synophrys, Unilateral ptosis, Hypertelorism, ...	ORPHA:3063
Tropical Endomyocardial Fibrosis	Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio...	ORPHA:75565
Machado-Joseph Disease Type 1	Dystonia, Proptosis	ORPHA:276238
Machado-Joseph Disease Type 2	Dystonia, Proptosis	ORPHA:276241
1P36 Deletion Syndrome	Horizontal eyebrow, Abnormal eyebrow morphology, Deeply set eye, Telangiectasia, Optic atrophy, E...	ORPHA:1606
Letterer-Siwe Disease	Pallor	OMIM:246400
Microcephaly 3, Primary, Autosomal Recessive	Proptosis	OMIM:604804
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Mitral regurgitation, Proptosis, Ectopia lentis	OMIM:271640
Erdheim-Chester Disease	Ptosis, Congestive heart failure, Proptosis, Xanthelasma	ORPHA:35687
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormality of the orbital region, Attenuation of retinal blood vessels, Optic nerve hypoplasia, ...	ORPHA:468631
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Autosomal Dominant Robinow Syndrome	Downslanted palpebral fissures, Epicanthus, Long eyelashes, Long palpebral fissure, Ptosis, Hyper...	ORPHA:3107
Autosomal Recessive Robinow Syndrome	Downslanted palpebral fissures, Epicanthus, Long eyelashes, Long palpebral fissure, Ptosis, Hyper...	ORPHA:1507
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Chorioretinal coloboma, Optic atrophy, Proptosis	OMIM:210730
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Downslanted palpebral fissures, Sparse eyebrow, Hypertelorism, Proptosis, Upslanted palpebral fis...	OMIM:617011
Pseudoxanthoma Elasticum	Sudden cardiac death, Retinal hemorrhage, Retinopathy, Restrictive cardiomyopathy, Angioid streak...	ORPHA:758
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Cerebral hemorrhage, Angioid streaks of the fundus, Macular degeneration, Ang...	OMIM:177850
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Specc1L-Related Hypertelorism Syndrome	Downslanted palpebral fissures, Ptosis, Hypertelorism, Proptosis, Arrhythmia, Thick eyebrow, High...	ORPHA:1519
Raine Syndrome	Downslanted palpebral fissures, Hypertelorism, Highly arched eyebrow, Proptosis	OMIM:259775
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Proptosis	ORPHA:440354
Restrictive Dermopathy 2	Proptosis	OMIM:619793
Machado-Joseph Disease Type 3	Dystonia, Proptosis	ORPHA:276244
Alg9-Cdg	Torticollis, Shallow orbits, Hypertelorism, Proptosis, Telecanthus, Tricuspid regurgitation	ORPHA:79328
Sclerosteosis 1	Hypertelorism, Papilledema, Proptosis, Optic atrophy	OMIM:269500
Diamond-Blackfan Anemia 1	Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Tricuspid stenosis, Intra...	OMIM:105650
Granulomatosis With Polyangiitis	Retinopathy, Cerebral ischemia, Purpura, Angina pectoris, Hypertension, Pericarditis, Epistaxis, ...	ORPHA:900
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy, Synophrys, Hypertelorism, Proptosis, Bradycardia	ORPHA:97297
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Abnormal bleeding, Proptosis	ORPHA:370348
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Proptosis	OMIM:602613
Thanatophoric Dysplasia Type 1	Proptosis	ORPHA:1860
Branchioskeletogenital Syndrome	Downslanted palpebral fissures, Blepharochalasis, Synophrys, Hypertelorism, Eyelid coloboma, Prop...	ORPHA:1299
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Downslanted palpebral fissures, Sparse eyebrow, Broad eyebrow, Hypertelorism, Proptosis, Upslante...	ORPHA:457359
Sepsis In Premature Infants	Purpura, Petechiae, Pallor	ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Fumarase Deficiency	Pallor	OMIM:606812
Wiedemann-Rautenstrauch Syndrome	Lagophthalmos, Deeply set eye, Entropion, Optic atrophy, Synophrys, Pulmonic stenosis, Optic disc...	ORPHA:3455
Melnick-Needles Syndrome	Hypertelorism, Proptosis	ORPHA:2484
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Rare Circulatory System Disease	Pallor	ORPHA:98028
Cutis Laxa, Autosomal Recessive, Type Ib	Downslanted palpebral fissures, Pulmonary insufficiency, Narrow palpebral fissure, Hypertelorism,...	OMIM:614437
Apert Syndrome	Downslanted palpebral fissures, Hypertelorism, Shallow orbits, Proptosis	OMIM:101200
Robinow Syndrome, Autosomal Recessive 1	Downslanted palpebral fissures, Right ventricular outlet tract obstruction, Long eyelashes, Long ...	OMIM:268310
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Growth delay	ORPHA:329971
Dysostosis, Stanescu Type	Hypertelorism, Proptosis	ORPHA:1798
Wilson Disease	Limb dystonia, Hand tremor, Tremor, Kayser-Fleischer ring, Dystonia	OMIM:277900
Mandibuloacral Dysplasia With Type B Lipodystrophy	Mottled pigmentation, Proptosis	OMIM:608612
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Pallor	ORPHA:20
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Downslanted palpebral fissures, Hypertelorism, Subretinal pigment epithelium hemorrhage	ORPHA:357074
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Metaphyseal Chondrodysplasia, Jansen Type	Hypertelorism, Proptosis	OMIM:156400
Glutaryl-Coa Dehydrogenase Deficiency	Retinal hemorrhage, Limb dystonia, Tremor, Subdural hemorrhage, Athetosis, Dystonia	ORPHA:25
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Degcags Syndrome	Pulmonary arterial hypertension, Hypopigmentation of the skin, Abnormal eyebrow morphology, Abnor...	OMIM:619488
Pfeiffer Syndrome Type 1	Hypertelorism, Proptosis	ORPHA:93258
Idiopathic Aplastic Anemia	Epistaxis, Retinal hemorrhage, Gingival bleeding, Ecchymosis	ORPHA:88
Meier-Gorlin Syndrome 7	Thin eyebrow, Second degree atrioventricular block, Proptosis, Heart block	OMIM:617063
Prolactinoma	Delayed puberty, Pallor	ORPHA:2965
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyelashes, Absent eyebrow, Proptosis	ORPHA:85199
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Aregenerative Anemia	Pallor	ORPHA:101096
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Adenohypophysitis	Pallor	ORPHA:95512
Pseudoaminopterin Syndrome	Epicanthus, Blepharophimosis, Hypertelorism, Proptosis, Highly arched eyebrow	ORPHA:221120
Meester-Loeys Syndrome	Downslanted palpebral fissures, Hypertelorism, Proptosis, Bruising susceptibility	OMIM:300989
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Hypertension associated with pheochromocytoma, Prominent corneal nerve fiber...	ORPHA:653
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Opisthotonus, Deeply set eye, Proptosis	ORPHA:508533
Pycnodysostosis	Proptosis	ORPHA:763
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Robinow Syndrome, Autosomal Dominant 1	Downslanted palpebral fissures, Right ventricular outlet tract obstruction, Epicanthus, Long eyel...	OMIM:180700
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Proptosis	OMIM:215150
Craniosynostosis 4	Hypertelorism, Proptosis, Optic nerve hypoplasia	OMIM:600775
Thymoma	Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia	ORPHA:99867
Panhypophysitis	Pallor	ORPHA:95513
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Refractory Anemia With Excess Blasts	Retinal hemorrhage, Abnormal bleeding, Palpitations	ORPHA:86839
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Campomelic Dysplasia	Hypertelorism, Proptosis	ORPHA:140
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Esophageal Atresia	Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor	ORPHA:1199
Keppen-Lubinsky Syndrome	Opisthotonus, Shallow orbits, Proptosis	OMIM:614098
Catel-Manzke Syndrome	Thin eyebrow, Hypertelorism, Proptosis, Upslanted palpebral fissure, Nasolacrimal duct obstruction	OMIM:616145
Pfeiffer Syndrome Type 2	Hypertelorism, Proptosis	ORPHA:93259
Fetal Akinesia Deformation Sequence 1	Short palpebral fissure, Blepharophimosis, Ptosis, Hypertelorism, Proptosis, Telecanthus	OMIM:208150
Loeys-Dietz Syndrome 3	Bruising susceptibility, Hypertelorism, Cataract, Mitral regurgitation, Proptosis, Subarachnoid h...	OMIM:613795
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Proptosis	OMIM:615349
Pfeiffer Syndrome Type 3	Hypertelorism, Proptosis	ORPHA:93260
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Proptosis	OMIM:207410
Fontaine Progeroid Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Pulmonary arterial hypertension, Synophr...	OMIM:612289
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperpigmentation of the skin, Proptosis	ORPHA:90154
Keppen-Lubinsky Syndrome	Opisthotonus, Shallow orbits, Proptosis	ORPHA:435628
Hyperthyroidism, Nonautoimmune	Tachycardia, Proptosis	OMIM:609152
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Corneal opacity, Bruising susceptibility	ORPHA:666
Congenital Total Pulmonary Venous Return Anomaly	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous...	ORPHA:99125
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Mitral regurgitation, Proptosis, Shallow orbits, Tricuspid regurgitation	OMIM:619127
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Blepharochalasis, Epicanthus, Bruising susceptibility, Ecchymosis, Arter...	ORPHA:287
Lead Poisoning	Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia	ORPHA:330015
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Delayed puberty, Pallor	ORPHA:91347
Familial Gestational Hyperthyroidism	Hand tremor, Proptosis	ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hand tremor, Proptosis	ORPHA:424
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Growth delay, Pallor	ORPHA:667
Idiopathic Hypereosinophilic Syndrome	Myocardial eosinophilic infiltration, Dilated cardiomyopathy, Pallor	ORPHA:3260
Atelosteogenesis, Type I	Hypertelorism, Proptosis	OMIM:108720
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Holoprosencephaly 3	Hypotelorism, Cyclopia, Proptosis	OMIM:142945
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Mandibuloacral Dysplasia With Type A Lipodystrophy	Mottled pigmentation, Proptosis	OMIM:248370
Meningioma	Papilledema, Proptosis, Cerebral hemorrhage, Syncope	ORPHA:2495
Beckwith-Wiedemann Syndrome	Hypertrophic cardiomyopathy, Melanocytic nevus, Proptosis, Choroideremia	ORPHA:116
Osteopetrosis, Autosomal Recessive 7	Optic nerve compression, Proptosis, Optic atrophy	OMIM:612301
Pallister-Killian Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Hypopigmented streaks, Epicanthus, Ptosis, Hypertel...	OMIM:601803
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:301040
Von Hippel-Lindau Disease	Cardiomyopathy, Myocarditis, Pallor	ORPHA:892
Melnick-Needles Syndrome	Pulmonary arterial hypertension, Hypertelorism, Proptosis	OMIM:309350
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Downslanted palpebral fissures, Thin eyebrow, Loss of eyelashes, Proptosis	ORPHA:2636
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Proptosis	ORPHA:93315
Camurati-Engelmann Disease	Optic nerve compression, Proptosis	OMIM:131300
Schinzel-Giedion Syndrome	Hypertelorism, Shallow orbits, Proptosis	ORPHA:798
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pallor	ORPHA:544482
Camurati-Engelmann Disease	Hypertrophic cardiomyopathy, Optic nerve compression, Proptosis, Optic atrophy	ORPHA:1328
Viss Syndrome	Pulmonary arterial hypertension, Deeply set eye, Epidural hemorrhage, Long palpebral fissure, Bru...	OMIM:619472
Craniosynostosis And Dental Anomalies	Downslanted palpebral fissures, Hypertelorism, Papilledema, Proptosis	OMIM:614188
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension, Sparse eyebrow, Sparse eyelashes, Proptosis	OMIM:210710
Robinow Syndrome	Pulmonic stenosis, Hypertelorism, Proptosis	ORPHA:97360
Osteogenesis Imperfecta, Type Viii	Proptosis	OMIM:610915
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Hypertelorism, Proptosis	OMIM:130070
Liver Disease, Severe Congenital	Systolic heart murmur, Proptosis, Abnormal left ventricular function, Epicanthus	OMIM:619991
Orofaciodigital Syndrome Type 4	Hypertelorism, Proptosis	ORPHA:2753
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Retinal hemorrhage, Angioid streaks of the fundus, Transient isc...	ORPHA:51608
Isolated Exencephaly	Proptosis	ORPHA:563612
Loeys-Dietz Syndrome 1	Hypertelorism, Proptosis	OMIM:609192
Eisenmenger Syndrome	Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia	ORPHA:97214
Beckwith-Wiedemann Syndrome	Proptosis, Cardiomyopathy	OMIM:130650
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypertelorism, Proptosis	OMIM:271665
Loeys-Dietz Syndrome 2	Hypertelorism, Proptosis	OMIM:610168
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertension, Hypertelorism, Proptosis	OMIM:201750
Osteogenesis Imperfecta, Type Vii	Proptosis	OMIM:610682
Goodpasture Syndrome	Pallor	OMIM:233450
Auditory Neuropathy, Autosomal Dominant 1		OMIM:609129

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Diaph3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Diaph3.

No publications found that use IMPC mice or data for Diaph3.

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MGI Allele	Allele Type	Produced
Diaph3^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Diaph3^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice
Diaph3^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Diaph3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Diaph3^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

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Gene: Diaph3 MGI:1927222

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Sleep Wake

X-ray

Embryo LacZ

X-ray

Gross Morphology Embryo E12.5

X-ray

Eye Morphology

Electrocardiogram (ECG)

X-ray

Gross Morphology Embryo E9.5

Adult LacZ

Eye Morphology

Electroretinography 2

Auditory Brain Stem Response

Human diseases caused by Diaph3 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data