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Gene: Ngp MGI:105983

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Gene Summary

Name:
neutrophilic granule protein
Synonyms:
clone B6,  myeloid granule protein,  bectenecin

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
corneal opacity Ngptm1b(KOMP)Wtsi HOM   Early adult 1.33×10-05
increased spleen weight Ngptm1b(KOMP)Wtsi HOM Early adult 1.74×10-07

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount 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)
Bone 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)
Cecum 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder 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)
Kidney 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 0.0% (0 of 2)
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)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary 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)
Parathyroid gland 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)
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)
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)
Trigeminal V nerve 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)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Human diseases caused by Ngp 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 Ngp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia ORPHA:1980
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Winchester Syndrome
Corneal opacity OMIM:277950
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils ORPHA:93476
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of th... ORPHA:290
Sialidosis Type 2
Splenomegaly, Hepatomegaly, Ascites, Corneal opacity ORPHA:87876
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Mucolipidosis Iv
Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Alpha-Mannosidosis
Splenomegaly, Hepatomegaly, Cataract, Corneal opacity ORPHA:61
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Galactosialidosis
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Scheie Syndrome
Splenomegaly, Hepatomegaly, Corneal opacity ORPHA:93474
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Cataract, Corneal opacity OMIM:613153
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:309288
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Visceromegaly ORPHA:93399
Wilson Disease
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Kayser-Fleischer ring, Cirrhos... ORPHA:905
Sialidosis Type 1
Splenomegaly, Cataract, Corneal opacity ORPHA:812
Scheie Syndrome
Corneal opacity OMIM:607016
Ocular Cystinosis
Corneal crystals ORPHA:411641
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Cataract, Corneal opacity ORPHA:585
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Congenital Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Developmental cataract, Hepatosplenomegaly, Ascites ORPHA:93400
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Corneal opacity OMIM:607015
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly OMIM:205400
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Corneal opacity, Hepatitis ORPHA:584
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... ORPHA:31150
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Macronodular cirrhosis, Abnormal T cell morphology OMIM:215250
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Corneal opacity OMIM:272200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Corneal opacity, Thrombocytopenia, Lymphadenopat... ORPHA:333
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Zellweger Syndrome
Hepatomegaly, Cataract, Corneal opacity, Brushfield spots, Jaundice, Posterior embryotoxon ORPHA:912
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Corneal opacity, Cardiomegaly ORPHA:349
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Corneal opacity, Leukopenia, Astigmatism, Thrombocytopenia OMIM:301056
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Lowry-Maclean Syndrome
Developmental glaucoma, Abnormality of the abdominal organs, Megalocornea, Corneal opacity ORPHA:2409
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Hurler Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Opacification ... OMIM:607014
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma OMIM:231005
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Pseudo-Torch Syndrome 1
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Opacification of the corneal stroma, Thrombocytop... OMIM:251290
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Cystinosis
Corneal opacity, Portal hypertension ORPHA:213
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion... ORPHA:1830
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Gm1 Gangliosidosis
Splenomegaly, Corneal opacity, Hepatosplenomegaly ORPHA:354
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Familial Dysautonomia
Abnormal peritoneum morphology, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hete... ORPHA:1764
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Corneal opacity, Opacification of the corneal stroma OMIM:253010
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation ORPHA:2719
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Hypoplasia o... OMIM:214110
Mucopolysaccharidosis, Type Vii
Splenomegaly, Hepatomegaly, Corneal opacity OMIM:253220
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Hurler Syndrome
Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils ORPHA:93473
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Mucopolysaccharidosis Type 1
Splenomegaly, Corneal opacity, Abnormality of the tonsils ORPHA:579
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Mucopolysaccharidosis Type 6
Splenomegaly, Opacification of the corneal stroma ORPHA:583
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation, Corneal opacity ORPHA:99776
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsi... ORPHA:581
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism ORPHA:309282
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Cardiomegaly, Megalocornea, Congenital aphakia ORPHA:137675
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Astigmatism, Opacification of the corneal strom... OMIM:242900
Meckel Syndrome
Accessory spleen, Cataract, Pancreatic fibrosis, Sclerocornea, Asplenia, Congenital hepatic fibro... ORPHA:564
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis ORPHA:2092
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Wilson Disease
Hepatomegaly, Hemolytic anemia, Thrombocytopenia, Atypical or prolonged hepatitis, Splenomegaly, ... OMIM:277900
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity, Eosinophilia ORPHA:464
Lathosterolosis
Hepatomegaly, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morpholo... ORPHA:46059
Mucopolysaccharidosis, Type Vi
Splenomegaly, Hepatomegaly, Corneal opacity OMIM:253200
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatos... ORPHA:2072
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma, Polysplenia OMIM:201000
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... OMIM:158310
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... OMIM:274000
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Fryns Syndrome
Corneal opacity ORPHA:2059
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... OMIM:175780
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Left ventricular hyper... ORPHA:324
3Mc Syndrome 3
Corneal opacity OMIM:248340
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Corneal ulceration, Hepatic fibrosis, Corneal opacity OMIM:615273
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Ascites, Corneal opacity, Cataract ORPHA:1052
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Splenomegaly, Jaundice... OMIM:614866
Gaucher Disease
Hepatomegaly, Pancytopenia, Corneal opacity, Splenomegaly, Hepatitis, Anemia, Cirrhosis, Thromboc... ORPHA:355
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Increased size of nasopharyn... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Increased size of nasopharyn... ORPHA:217093
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity ORPHA:464311
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Anemia ORPHA:79396
Moebius Syndrome
Corneal opacity ORPHA:570
Lathosterolosis
Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic chol... OMIM:607330
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Opacification of the c... OMIM:214100
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity ORPHA:464306
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Thrombocytopenia, Abnormal pupil morphology, Buphthalmos, Lentiglobus,... ORPHA:534
Mucopolysaccharidosis Type 2
Splenomegaly, Hepatomegaly, Enlarged tonsils, Corneal opacity ORPHA:580
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Opacification of the corneal stroma OMIM:253000
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy ORPHA:495875
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Chime Syndrome
Corneal opacity, Acute leukemia ORPHA:3474
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Neurofibromatosis Type 1
Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Leukemia, Heterochromia i... ORPHA:636
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Larsen Syndrome
Corneal opacity OMIM:150250
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma, Megalocornea, Enla... OMIM:252500
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Kindler Epidermolysis Bullosa
Conjunctivitis, Anemia, Corneal opacity ORPHA:2908
Limb Body Wall Complex
Abnormality of the liver, Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Oculoectodermal Syndrome
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma OMIM:600268
Mosaic Trisomy 1
Hepatic agenesis, Opacification of the corneal stroma ORPHA:1692
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Developmental cataract, Hypoplasia of the iris, Microcornea, Opacific... OMIM:133540
Wolf-Hirschhorn Syndrome
Sclerocornea, Abnormality of the gallbladder, Abdominal situs inversus, Megalocornea, Iris coloboma ORPHA:280
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma OMIM:251300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Williams Syndrome
Cataract, Flat cornea, Corneal opacity, Cardiomegaly, Blue irides, Aplasia/Hypoplasia of the iris... ORPHA:904
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Iris coloboma, Sclerocornea, Cataract ORPHA:818
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Fraser Syndrome 1
Abnormal thymus morphology, Corneal opacity OMIM:219000
Osteogenesis Imperfecta
Corneal opacity, Thrombocytopenia ORPHA:666
Cockayne Syndrome A
Hepatomegaly, Cataract, Splenomegaly, Thymic hormone decreased, Opacification of the corneal stroma OMIM:216400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Digeorge Syndrome
Sclerocornea, Thrombocytopenia, Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymu... OMIM:188400
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium ORPHA:910
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Biliary tract abnormality, Opacification of the corn... OMIM:268300
Wiedemann-Rautenstrauch Syndrome
Cataract, Hepatic steatosis, Corneal opacity ORPHA:3455
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Fryns Syndrome
Opacification of the corneal stroma, Ectopic pancreatic tissue, Polysplenia OMIM:229850
Yunis-Varon Syndrome
Cataract, Sclerocornea, Cardiomegaly ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340

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 Ngp

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 Ngp.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Neutrophilic Granule Protein Is a Novel Murine LPS Antagonist. Immune network (October 2019) Ngptm1b(KOMP)Wtsi PMC6829075

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ngptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ngptm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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