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Gene: Stoml1 MGI:1916356

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Gene Summary

Name:
stomatin-like 1
Synonyms:
1810015E19Rik,  UNC-24,  SLP-1,  WPB72

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
enlarged spleen Stoml1em1(IMPC)Tcp HOM Early adult 0.00
abnormal retina blood vessel morphology Stoml1em1(IMPC)Tcp HOM Early adult 2.85×10-05
abnormal seminal vesicle morphology Stoml1em1(IMPC)Tcp HOM Early adult 0.00
abnormal optic disk morphology Stoml1em1(IMPC)Tcp HOM Early adult 1.72×10-07
abnormal pancreas morphology Stoml1em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Stoml1em1(IMPC)Tcp HOM Early adult 0.00
abnormal retina morphology Stoml1em1(IMPC)Tcp HOM Early adult 5.25×10-05
abnormal eye morphology Stoml1em1(IMPC)Tcp HOM Early adult 0.00

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

99 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Human diseases caused by Stoml1 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 Stoml1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Retinal dysplasia OMIM:615041
Ceroid Lipofuscinosis, Neuronal, 9
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy OMIM:609055
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:165300
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Combined Saposin Deficiency
Splenomegaly, Optic atrophy, Hepatomegaly OMIM:611721
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Left ventricular hypertrophy OMIM:618632
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia OMIM:615085
Sandhoff Disease
Splenomegaly, Cherry red spot of the macula, Hepatomegaly ORPHA:796
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Optic Atrophy 6
Optic atrophy OMIM:258500
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degenera... OMIM:204200
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... OMIM:611490
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Abnormal macular morphology... OMIM:607616
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Vacuolated lymphocytes, Optic atrophy, Retinal degeneration OMIM:256730
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... ORPHA:158029
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Joubert Syndrome 33
Cone/cone-rod dystrophy, Splenomegaly OMIM:617767
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Abnormal peripheral action po... ORPHA:457205
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Neutropenia, Pancreatitis, Anemia ORPHA:79312
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Optic atrophy, Hypogonadotropic hypogonadism OMIM:619310
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Stt3B-Cdg
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia ORPHA:370924
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia OMIM:615597
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic ... OMIM:249270
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Mitochondrial Complex I Deficiency, Nuclear Type 8
Optic disc pallor, Pancreatitis OMIM:618230
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Diencephalic Syndrome
Long penis, Optic atrophy ORPHA:1672
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a... ORPHA:1173
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cryptorchidism OMIM:613730
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Abnormal pancreas morphology, Hypochromic... ORPHA:48818
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Chorioretinal coloboma ORPHA:1473
Senior-Loken Syndrome 8
Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone dystrophy, Intrahepatic bile duct ... OMIM:616307
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly OMIM:207750
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis OMIM:602390
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Thrombocytopenia, Optic atrophy, Neutropenia, Pancreatitis, Anemia ORPHA:289916
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th... ORPHA:2470
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Microcephaly, Amish Type
Hypoplasia of the fovea, Hepatomegaly, Optic atrophy OMIM:607196
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Retinal dystrophy, Aplastic anemia, Pancreatic steatosis, C... OMIM:617052
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... OMIM:598500
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Leukopenia, Pancreatitis, Anemia ORPHA:27
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Optic Pathway Glioma
Precocious puberty, Papilledema, Neurofibroma, Optic atrophy ORPHA:2086
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Juvenile Glaucoma
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... ORPHA:98977
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Farber Lipogranulomatosis
Splenomegaly, Cherry red spot of the macula, Lipogranulomatosis, Hepatomegaly OMIM:228000
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Woods Syndrome
Optic atrophy, Supernumerary nipple OMIM:615236
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
3-Methylglutaconic Aciduria, Type V
Hypospadias, Microvesicular hepatic steatosis, Cryptorchidism, Optic atrophy, Normochromic microc... OMIM:610198
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Enlarged ... OMIM:232220
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Hypospadias OMIM:618688
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,... ORPHA:1451
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis OMIM:238600
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnor... ORPHA:449432
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal... OMIM:300578
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Facial palsy, Aplasia/Hypoplasia of the ... ORPHA:456312
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Abnormality of pe... ORPHA:585
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Abnormal chorioretinal morphology, A... ORPHA:564
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis OMIM:615947
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... OMIM:235200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Stankiewicz-Isidor Syndrome
Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Shawl scrotum, Micropenis OMIM:617516
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Joubert Syndrome 8
Hepatomegaly, Pigmentary retinopathy, Optic disc pallor, Prolonged neonatal jaundice OMIM:612291
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly ORPHA:466934
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Facial p... OMIM:259700
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa... OMIM:260920
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy OMIM:609541
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... OMIM:618935
Wildervanck Syndrome
Pseudopapilledema, Facial palsy ORPHA:3456
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... OMIM:615710
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomeg... OMIM:610377
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Osteopetrosis, Autosomal Recessive 9
Papilledema, Hyperparathyroidism, Anemia OMIM:620366
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Optic atrophy, Hepatosplenomegaly, Yellow/white lesions of... ORPHA:93400
Coach Syndrome 1
Hepatomegaly, Optic disc pallor, Portal hypertension, Splenomegaly, Abnormal abdomen morphology, ... OMIM:216360
Cholesteryl Ester Storage Disease
Hepatomegaly, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Splenomegaly, Thrombocy... OMIM:278000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Retinal dysplasia ORPHA:1190
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Testicular atr... OMIM:222300
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc... ORPHA:2969
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... ORPHA:247691
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Bardet-Biedl Syndrome 20
Papilledema, Bilateral cryptorchidism, Retinal vascular tortuosity, Male hypogonadism, Micropenis... OMIM:619471
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Decreased nerve... OMIM:214500
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Hypoparathyroidism, Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Macular hypoplasia, Chorioretina... OMIM:147791
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice... OMIM:615512
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney OMIM:200995
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatomegaly, Increased hepatic echogenicity, Hepatic steatosis OMIM:261680
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Hepatosplenomegaly ORPHA:309288
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy OMIM:601539
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Macular atrophy, Splenomegaly, Microvesicular hepatic steatosis, ... OMIM:619418
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased r... ORPHA:699
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome... ORPHA:251066
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Abnormal optic disc morphology,... ORPHA:293967
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Aniridia 2
Optic atrophy OMIM:617141
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Bohring-Opitz Syndrome
Delayed peripheral myelination, Abnormal optic nerve morphology, Supernumerary nipple, Hyperechog... OMIM:605039
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt... OMIM:300755
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dys... OMIM:614863
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Aganglionic megacolon ORPHA:210122
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia OMIM:612301
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp... ORPHA:116
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia OMIM:310600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... OMIM:617941
Biotinidase Deficiency
Splenomegaly, Optic atrophy, Hepatomegaly OMIM:253260
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... ORPHA:263479
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne... OMIM:300908
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope... OMIM:616084
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Retinal dystrophy, Hepatic fibrosis, Ambiguous genitalia, Micropenis OMIM:263520
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Optic atrophy, Cholelithiasis, Annular pancreas ORPHA:97297
Pagod Syndrome
Abnormality of the spleen, Optic atrophy, Abnormal morphology of female internal genitalia, Agona... ORPHA:991
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Supernumerary nipple, Retinal vascular... OMIM:308300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Optic atrophy, Lymph... OMIM:615688
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... ORPHA:93111
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Lingual th... OMIM:606519
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227646
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis, Exocrine p... OMIM:616263
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Blau Syndrome
Facial palsy, Abnormal retinal vascular morphology, Splenomegaly, Retrobulbar optic neuritis, Lym... ORPHA:90340
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, A... OMIM:146255
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Rod-cone dystrophy ORPHA:488642
Joubert Syndrome 21
Retinopathy, Splenomegaly, Optic atrophy, Megalopapilla OMIM:615636
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Annular pancreas, Optic atrophy, Hypospadias OMIM:616975
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Crani... ORPHA:2785
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediasti... OMIM:181000
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptorchidism, Optic atrophy, Ocula... ORPHA:1606
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Aganglionic megacolon, Hypospadias, Cryptorchidism, Bic... OMIM:229850
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Optic nerve hypoplasia, Anemia, Pancreatic aplasia OMIM:609069
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Lymphangioleiomyomatosis
Retinal hamartoma, Abnormality of the lymphatic system, Optic atrophy, Abnormal morphology of fem... ORPHA:538
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Anemia, Retinal calcification OMIM:127000
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy OMIM:259900
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... ORPHA:731
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Hypoplasia of the ovary, ... OMIM:619321
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Retinal dystrophy, Supernumerary nipple, Subretinal deposits, Abnormal optic disc mo... ORPHA:397715
Leptospirosis
Hepatomegaly, Papilledema, Jaundice, Hepatitis, Retinal hemorrhage, Lymphadenopathy, Chorioretini... ORPHA:509
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Distal Deletion 12Q
Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Micropenis, Congenital hypertrophy... ORPHA:96149
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Annular pancreas, Hypogonadism OMIM:268400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal colobo... ORPHA:508498
Trisomy 8P
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Micropenis ORPHA:264450
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Jacobsen Syndrome
Cryptorchidism, Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia ORPHA:2308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Asplenia, Pulmonary lymphangiectasia, Bicornuate uterus, Annular pancreas, Right ven... OMIM:265380
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Abnormal optic disc morphology, Aplasia/Hypoplasia of the fallopian ... ORPHA:96121
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora OMIM:266270
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Myeloid leukemia, Hypospadias, Micropenis, Hepatoblastoma, A... ORPHA:798
Pineoblastoma
Papilledema, Retinoblastoma, Pinealoma ORPHA:251909

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 Stoml1

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 Stoml1.

No publications found that use IMPC mice or data for Stoml1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Stoml1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Stoml1em1(IMPC)Tcp Exon Deletion Mice
Stoml1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Stoml1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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