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Gene: Rab19 MGI:103292

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Gene Summary

Name:
RAB19, member RAS oncogene family
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.48×10-05
increased cornea thickness Rab19tm1b(EUCOMM)Hmgu HOM Early adult 6.99×10-05
persistence of hyaloid vascular system Rab19tm1b(EUCOMM)Hmgu HOM   Early adult 6.20×10-05
decreased large unstained cell number Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.43×10-08
abnormal cornea morphology Rab19tm1b(EUCOMM)Hmgu HOM Early adult 6.31×10-05
corneal opacity Rab19tm1b(EUCOMM)Hmgu HOM Early adult 2.15×10-05
abnormal contextual conditioning behavior Rab19tm1b(EUCOMM)Hmgu HOM Early adult 5.41×10-05
decreased circulating calcium level Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.88×10-05
increased heart weight Rab19tm1b(EUCOMM)Hmgu HOM Early adult 1.00×10-09

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Rab19 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rab19 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Juvenile Temporal Arteritis
Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia, Corneal opacity ORPHA:1980
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity ORPHA:2432
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Retinal detachment, Corneal opacit... OMIM:610202
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Cognitive impairment, Hypocalcemia ORPHA:172
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Galactosialidosis
Corneal opacity ORPHA:351
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 88
Eosinophilia OMIM:619630
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Morquio Syndrome C
Corneal opacity OMIM:252300
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... ORPHA:1067
Stickler Syndrome Type 2
Cataract, Retinal detachment, Corneal opacity ORPHA:90654
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Conjunctivitis, Hypoca... ORPHA:36913
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Mucolipidosis Type Iii
Abnormal heart valve morphology, Cognitive impairment, Abnormal aortic valve morphology, Corneal ... ORPHA:577
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Winchester Syndrome
Corneal opacity OMIM:277950
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thr... OMIM:226990
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Keratitis OMIM:618523
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... ORPHA:75566
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Progressive neurologic deterioration, Opaci... OMIM:252650
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Hepat... OMIM:612526
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity ORPHA:1532
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Hyperthreoninemia, Optic disc drusen, Hepatomegaly OMIM:204000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Macular atrophy OMIM:604393
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Elevated circulating C-reactive prot... OMIM:607115
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Corneal neovascularization, Splenomegaly, Autoimmune hemolytic anemia, Punctat... OMIM:617388
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Mitral valve prolapse, Decreased corneal thickness, Kera... OMIM:229200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma OMIM:613835
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:620152
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Cognitive impairment OMIM:612462
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Leber Congenital Amaurosis 2
Optic disc pallor, Cataract, Keratoconus, Pigmentary retinopathy OMIM:204100
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Abnormality of... ORPHA:290
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity ORPHA:2370
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Corneal opacity ORPHA:79292
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:93476
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Kimura Disease
Eosinophilia ORPHA:482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Colob... OMIM:613153
Pseudohypoparathyroidism Type 1B
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... ORPHA:94089
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Corneal opacity OMIM:618815
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia, Hepatomegaly OMIM:615387
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia, Mitral valve prolapse ORPHA:1563
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocy... OMIM:603554
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Developmental cataract ORPHA:557003
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Papilledema, Developmental cataract, Transient hypophosphatemia,... OMIM:127000
Roifman Syndrome
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Hepatomegaly OMIM:616651
X-Linked Agammaglobulinemia
Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Recurrent cutaneous abscess ... ORPHA:47
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Oculoskeletodental Syndrome
Splenomegaly, Hypocalcemia, Developmental cataract, Hepatomegaly, Hypercalcemia OMIM:618440
Leber Congenital Amaurosis 9
Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the... OMIM:608553
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Cataract, Corneal neovascularization, Keratoconjunctivitis, Eosinophilia, Opacific... OMIM:158310
Albers-Schönberg Osteopetrosis
Anemia, Optic atrophy, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Gracile Bone Dysplasia
Asplenia, Aniridia, Hypoplastic spleen, Hypocalcemia OMIM:602361
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia ORPHA:169160
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Attention deficit hyperact... OMIM:152950
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocy... OMIM:259720
Wells Syndrome
Eosinophilia ORPHA:901
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Alpha-Mannosidosis, Adult Form
Cataract, Confusion, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Optic disc pallor ORPHA:309288
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Acute leukemia, Corneal opacity ORPHA:281090
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentratio... ORPHA:2070
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Brittle Cornea Syndrome
Corneal scarring, Mitral valve prolapse, Pulmonic stenosis, Decreased corneal thickness, Retinal ... ORPHA:90354
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Hepatomegaly ORPHA:39041
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity ORPHA:2323
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Corneal opacity ORPHA:87876
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly OMIM:259700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis OMIM:618282
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Aspergillosis
Eosinophilia, Keratitis, Neutropenia ORPHA:1163
Lcat Deficiency
Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating apolipoprotein A-... ORPHA:650
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Developmental cataract, Corneal opacity OMIM:617183
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hemolytic anemia, N... OMIM:245900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Rapid neurologic deterioration, Splenomegaly, Abnormality of retinal pig... ORPHA:585
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocardi... ORPHA:31824
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Optic atrophy, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis ORPHA:2902
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... OMIM:615952
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Astigmatism, Opacification of the corne... OMIM:270200
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Pearson Syndrome
Cataract, Bone marrow hypocellularity, Pigmentary retinopathy, Cardiomyopathy, Hypomagnesemia, Ab... ORPHA:699
Incontinentia Pigmenti
Cataract, Keratitis, Eosinophilia, Attention deficit hyperactivity disorder, Retinal detachment, ... ORPHA:464
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce... ORPHA:411634
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma,... OMIM:615145
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Cardiomyopathy, Leukocytosis, Splenomegaly, Hypocalcemia, Hypophosphatemia, H... ORPHA:289157
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypocalcemia, Patent foramen... ORPHA:26793
Alpha-Mannosidosis
Hepatomegaly, Cataract, Splenomegaly, Corneal opacity ORPHA:61
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Confusion, Elevated circulating creatinine concentration, Abscess, Hypocalcemia,... ORPHA:36234
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Corneal opacity, Optic nerve hypoplasia ORPHA:496790
Linear Verrucous Nevus Syndrome
Cataract, Mental deterioration, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma ORPHA:2611
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Astigmatism, Keratoglobus OMIM:108145
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis ORPHA:293173
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Corneal op... ORPHA:93399
Pseudohypoparathyroidism Type 1C
Cataract, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Conjunctiv... ORPHA:79444
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Adamantinoma
Hypercalcemia ORPHA:55881
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Coloboma, Hypertriglyceridemia, Peri... OMIM:618183
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Splenomegaly, Autoimmune hemolytic anemia, Hypocalcemia, Decreas... ORPHA:37042
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Hypocalcemia, Truncus arteriosus, Ventricular septal... ORPHA:3426
Pseudohypoparathyroidism, Type Ia
Cataract, Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cel... OMIM:102700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Optic atrophy, Cognitive impairment, Hypocalcemia OMIM:618476
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Scheie Syndrome
Aortic valve stenosis, Retinal degeneration, Mitral stenosis, Corneal opacity OMIM:607016
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Cystic Echinococcosis
Peritoneal abscess, Abnormal heart morphology, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinop... ORPHA:400
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Splenomegaly, Retinal degeneration, Corneal opacity, Hepatomegaly OMIM:272200
Incontinentia Pigmenti
Cataract, Optic atrophy, Keratitis, Leukocytosis, Eosinophilia, Retinal detachment, Retinal hemor... OMIM:308300
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Cataract, Corneal opacity ORPHA:1867
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Abnormal optic disc morphology, Decreased corneal thickness ORPHA:293967
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia OMIM:615816
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalcemia, Calc... ORPHA:79443
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... OMIM:243700
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity ORPHA:2788
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Astigmatism, Ventricular septal defect, Elevated circulating creatine kinase concentr... OMIM:301056
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyperuricemia, Macrocytic anemia, Hyponatremia, Eosinophilia, Hypercalcemia ORPHA:199299
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Hypocalcemia, Patent foramen ovale OMIM:607143
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis ORPHA:139402
Velocardiofacial Syndrome
Tetralogy of Fallot, Posterior embryotoxon, Hypocalcemia, Ventricular septal defect OMIM:192430
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hypereosinophilia ORPHA:449400
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Hypoproteinemia OMIM:235255
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Pigmentary retinopathy, Cardiomyopathy, Hypocalcemia ORPHA:746
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Microtriplication 11Q24.1
Keratoconus, Hyperlipidemia ORPHA:289522
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Scheie Syndrome
Hepatomegaly, Splenomegaly, Corneal opacity ORPHA:93474
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Abnormal heart morphology, Hepatosplenomegaly, Developmental cataract, C... ORPHA:93400
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Cartilage-Hair Hypoplasia
Cardiomyopathy, Abnormality of retinal pigmentation, Hypocalcemia, Anemia, Cognitive impairment, ... ORPHA:175
Zellweger Syndrome
Cataract, Optic atrophy, Ventricular septal defect, Posterior embryotoxon, Cognitive impairment, ... ORPHA:912
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Keratoconus, Increased serum bile acid concentration, Conjunctivitis, Decreased ... OMIM:242150
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly OMIM:230650
Eosinophilic Granulomatosis With Polyangiitis
Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocard... ORPHA:183
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma ORPHA:139471
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Ventricular septal defect, Hepatomegaly, Hypoprot... ORPHA:1655
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale, Retinal degeneration ORPHA:542306
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Attention deficit hyperactivity disorder, Optic atrophy, Optic nerve hypoplasia ORPHA:401777
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Sialidosis Type 1
Cataract, Splenomegaly, Corneal opacity ORPHA:812
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Memory impairment, Dementia, Confusion, Hepatosplenomegaly, Thrombocytosi... ORPHA:3260
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Abnormal circulating creatine kinase concentration, Retinal... ORPHA:899
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Thrombocytopenia-Absent Radius Syndrome
Cataract, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, V... OMIM:274000
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Visceromegaly OMIM:256540
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Netherton Syndrome
Hypereosinophilia OMIM:256500
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemi... ORPHA:1830
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Keratoconus, Atrial septal defect OMIM:175700
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Left ven... ORPHA:31150
22Q11.2 Deletion Syndrome
Cataract, Optic atrophy, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Corneal neovas... ORPHA:567
Cystinosis
Hypokalemia, Hypophosphatemia, Corneal opacity ORPHA:213
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Developmental cataract, Anemia, Retinal calc... ORPHA:93325
Fucosidosis
Hepatomegaly, Cardiomegaly, Corneal opacity ORPHA:349
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Mucolipidosis Type Iii Alpha/Beta
Right ventricular hypertrophy, Cognitive impairment, Corneal opacity ORPHA:423461
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Hurler Syndrome
Progressive neurologic deterioration, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelasto... OMIM:607014
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Optic atrophy, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circ... ORPHA:2785
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypotriglyceridemia, Ectopia pupillae, Abnormality of retinal pigmentation, Retinal atrophy, Colo... ORPHA:85167
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Igg4-Related Pachymeningitis
Confusion, Mental deterioration, Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Hypophosphatemic rickets, Corneal opacity OMIM:163200
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Coloboma, Corneal opacity ORPHA:2399
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Corneal opacity, Co... ORPHA:1764
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... OMIM:619991
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Peters anomaly, Megalocornea, Elevated circulating creatine kinase conce... OMIM:236670
Gm1 Gangliosidosis
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Hepatosplenomegaly, Splenomegaly, Ventr... ORPHA:354
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Fabry Disease
Cataract, Optic atrophy, Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, H... ORPHA:324
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Corneal opacity OMIM:607015
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia, Pericardial effusion ORPHA:73224
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Alveolar Echinococcosis
Cutaneous abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Ane... ORPHA:284
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Abnormality of retinal pigmentation, ... ORPHA:791
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Myocarditis, Hyperkale... ORPHA:544482
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Wilson Disease
Kayser-Fleischer ring, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly ORPHA:905
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Episodic hemolytic anemia, Increased blood urea nitrogen, ... ORPHA:251004
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Lowry-Maclean Syndrome
Atrioventricular canal defect, Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Pterygium, Hypertrophic cardiomyopathy, Concentric hypertrophic cardio... OMIM:618052
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Abnormal heart morphology, Opacification of the corneal stroma,... OMIM:214110
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Ventricular septal defect, Atrial septal defect, Thrombocytopen... ORPHA:163979
Ethylene Glycol Poisoning
Confusion, Hyperkalemia, Hypocalcemia ORPHA:31826
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Cognitive impairment, Corneal opacity ORPHA:582
Farber Disease
Macular degeneration, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Opacificatio... ORPHA:333
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Anemia,... ORPHA:667
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
3Q29 Microduplication Syndrome
Cataract, Aniridia, Ventricular septal defect, Sclerocornea, Iris coloboma ORPHA:251038
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Mental deterioration, Optic atrophy, Cardiomyopathy, Abnorm... ORPHA:580
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, T... ORPHA:466650
Digeorge Syndrome
Tetralogy of Fallot, Splenomegaly, Hypocalcemia, Truncus arteriosus, Ventricular septal defect, H... OMIM:188400
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Cataract, Pigmentary retinopathy, Optic atrophy, Dementia, ... ORPHA:581
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Peters anomaly, Tetralogy of Fallot, Axenfeld anomaly, Patent foramen ova... OMIM:612582
Hennekam Syndrome
Pericardial effusion, Lymphopenia, Splenomegaly, Hypocalcemia ORPHA:2136
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Opacification of the corneal stroma, Splenomegaly, Cognitive imp... ORPHA:583
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... OMIM:619632
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Wagro Syndrome
Cataract, Aniridia, Corneal opacity OMIM:612469
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia OMIM:239200
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Ventricular septal defect, Atrial septal defect, Hepatome... ORPHA:52
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Ventricular septal defect ORPHA:77298
Sarcoidosis
Cataract, Leukopenia, Hypercalcemia, Increased T cell count, Anemia, Keratoconjunctivitis sicca, ... ORPHA:797
Pseudo-Torch Syndrome 1
Cataract, Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly, Opacification of th... OMIM:251290
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea OMIM:615877
Mucopolysaccharidosis Type 1
Optic atrophy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnorm... ORPHA:579
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Costello Syndrome
Keratoconus, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Pulmo... ORPHA:3071
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Thrombocytopenia, Developmental cataract, Anemia, Supra... OMIM:620185
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Cognitive impairment, Pericarditis ORPHA:228123
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma, Optic nerve... OMIM:243605
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decreased HDL chol... ORPHA:425
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Conjunctival whitish salt-like deposits, Hyperphosphatemia, Calcinosis OMIM:211900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypophosphatasia, Infantile
Anemia, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Hepatomegaly, Opacification of the corneal stroma, Corneal opacity OMIM:253010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,... OMIM:614643
Charge Syndrome
Cataract, Secundum atrial septal defect, Retinal coloboma, Tetralogy of Fallot, Lymphopenia, Hypo... OMIM:214800
Axenfeld-Rieger Syndrome, Type 2
Abnormal heart morphology, Microcornea, Opacification of the corneal stroma, Anterior chamber syn... OMIM:601499
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Focal Dermal Hypoplasia
Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Ventricular septal defect, Cognit... ORPHA:2092
Hypercholesterolemia, Familial, 3
Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Anemia ORPHA:2719
Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect OMIM:300712
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Retinal degeneration OMIM:210370
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Sterile abscess, Decreased... OMIM:618175
Down Syndrome
Keratoconus, Cataract, Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioven... ORPHA:870
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal def... OMIM:613001
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Pericardial e... ORPHA:358
Mosaic Trisomy 9
Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular septal defect, Atrial se... ORPHA:99776
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomyopathy, Retinal degeneration, Hepatomegaly, Opacific... OMIM:252600
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Optic disc coloboma, Ectopia pupillae, Retinal atrophy, Corneal opacity, Macular atrophy, Lens su... OMIM:608940
Mucopolysaccharidosis Type 2, Attenuated Form
Mental deterioration, Optic atrophy, Cardiomyopathy, Abnormal heart valve morphology, Hepatosplen... ORPHA:217093
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Astigmatism, Neutropenia, Thrombocytopenia... OMIM:242900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv... ORPHA:83471
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Eosinophilia, Keratitis ORPHA:449563
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... ORPHA:75565
Alpha-Mannosidosis, Infantile Form
Cataract, Confusion, Hepatosplenomegaly, Pancytopenia, Short attention span, Astigmatism, Corneal... ORPHA:309282
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Histiocytoid Cardiomyopathy
Optic atrophy, Megalocornea, Ventricular septal defect, Cardiomegaly, Corneal opacity, Congenital... ORPHA:137675
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Corneal opacity, Hepatomegaly OMIM:253220
Mucopolysaccharidosis Type 2, Severe Form
Mental deterioration, Optic atrophy, Cardiomyopathy, Abnormal heart valve morphology, Hepatosplen... ORPHA:217085
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Hurler Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Cornea... ORPHA:93473
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Cognitive impairment OMIM:601853
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Chime Syndrome
Acute leukemia, Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Transposition o... ORPHA:3474
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Optic atrophy, Astigmatism, Optic disc pallor ORPHA:72
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Pigmentary retinopathy, Peters anomaly, Histiocytoid cardiomyopathy, Ventricular septal... OMIM:309801
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Ventricular septal defect, Cognitive impairment, Cornea... ORPHA:488632
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lymphopenia, Chroni... ORPHA:906
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Astigmatism, Ventricular septal defect, Attention deficit hyperactivity di... ORPHA:464311
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Eosinophi... ORPHA:449395
Mucolipidosis Iii Gamma
Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Hypokalemia, Hypophosphatem... ORPHA:411629
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Abnormal heart morphology, Astigmatism, Atrial septal defect, Hypertr... ORPHA:369837
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Peripapillary atrophy, Astigmatism, Cornea... OMIM:175780
Ocular Cystinosis
Corneal crystals ORPHA:411641
Carpenter Syndrome 1
Optic atrophy, Microcornea, Polysplenia, Tetralogy of Fallot, Ventricular septal defect, Transpos... OMIM:201000
Gaucher Disease
Aortic valve calcification, Splenic infarction, Decreased HDL cholesterol concentration, Abnormal... ORPHA:355
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Hypocalcemia OMIM:218330
Phace Syndrome