banner
Genes Phenotypes Help, News, Blog

Gene: Tgfbi MGI:99959

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
transforming growth factor, beta induced
Synonyms:
Beta-ig,  68kDa,  bIG-h3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Tgfbi mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tgfbi by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Morquio Syndrome C
Corneal opacity OMIM:252300
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Immunodeficiency 105
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, Absence of lymph node germinal center, T lympho... OMIM:619924
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... OMIM:615559
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Bazex Syndrome
Anemia, Lung adenocarcinoma, Neoplasm, Liposarcoma ORPHA:166113
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... ORPHA:66661
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Immunodeficiency 76
B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneum... OMIM:619164
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts,... OMIM:133180
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... OMIM:619126
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop... ORPHA:86893
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Abnormality of the peritoneum ORPHA:2023
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Follicular hyperplasia, ... OMIM:614470
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased B cell count, Bronchiectasis, Lymphadenopathy, Increased proportion... OMIM:618982
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Neoplasm, Hepatomegaly, Splenomegaly, Short stature, Cholestasis, Jaundice ORPHA:172
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... ORPHA:137599
Blue Cone Monochromatism
Corneal dystrophy ORPHA:16
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Mediastinal lympha... OMIM:300853
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... ORPHA:158057
Immunodeficiency 54
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Short stature, Ly... OMIM:609981
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Immunodeficiency 16
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy ORPHA:98293
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... ORPHA:83469
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Immunodeficiency 64
Failure to thrive, B-cell lymphoma, Splenomegaly, Increased proportion autoreactive unresponsive ... OMIM:618534
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Hypogonadism, Diabetes mellitus, Congenital hepatic... ORPHA:79230
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Failure to thrive secondary to recurren... OMIM:608971
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Immunodeficiency 36
Growth delay, B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, Short stature, Recurr... OMIM:616005
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma, Increased body weight, Weight loss ORPHA:1501
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Legius Syndrome
Ovarian neoplasm, Short stature, Acute monocytic leukemia, Desmoid tumors, Nephroblastoma, Multip... ORPHA:137605
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Pleural effus... ORPHA:545
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... ORPHA:231401
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells, Recurr... OMIM:269840
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Non-Hodgkin lymphoma, Basal cell carci... ORPHA:3261
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Anemia, Hemangioma, Multiple enchondromatosis, Sarcoma, V... ORPHA:296
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Fish-Eye Disease
Corneal opacity ORPHA:79292
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Growth delay, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca ORPHA:411777
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... OMIM:615513
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acute Lympho... OMIM:619824
Ocular Cystinosis
Corneal crystals ORPHA:411641
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... ORPHA:444463
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... OMIM:619375
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Thrombocytopenia, ... ORPHA:69077
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Abnormal eosinophil morphology, Breast carcinoma, Gastrointestinal... ORPHA:221
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal macrophage morphology, ... ORPHA:2585
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... ORPHA:846
Gray Platelet Syndrome
Myelodysplasia, Thrombocytopenia, Splenomegaly ORPHA:721
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis OMIM:614195
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy ORPHA:100024
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Scheie Syndrome
Corneal opacity OMIM:607016
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice ORPHA:79238
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Splenomegaly, Poikilo... OMIM:615234
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Immunodeficiency, Common Variable, 2
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Recurrent sinusitis, Recu... OMIM:240500
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... OMIM:618963
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Abnormal pulmonary interstitia... OMIM:607616
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Classic Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Weight loss, Lymphad... ORPHA:391
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... OMIM:615122
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, ... ORPHA:2584
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperhidrosis ORPHA:276608
Sialidosis Type 2
Corneal opacity ORPHA:87876
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... ORPHA:824
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276575
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... ORPHA:137596
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic bronchitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Bronc... OMIM:613490
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulmi... OMIM:308240
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy ORPHA:37748
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... OMIM:601847
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Caspase 8 Deficiency
Failure to thrive, Splenomegaly, Short stature, Pneumonia, Recurrent sinopulmonary infections, De... OMIM:607271
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Hepatomegaly, Neutrophilia, Weight loss, Lymphadenopathy, Abnormal mast cell mo... ORPHA:98849
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Alpha-Mannosidosis
Corneal opacity, Cataract ORPHA:61
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Lymphoproliferative Syndrome 1
B-cell lymphoma, Hodgkin lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... OMIM:613011
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Galactosemia Iii
Failure to thrive, Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Lcat Deficiency
Corneal opacity ORPHA:650
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Portal fibrosis, Jaundice, Acholic ... OMIM:619868
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Autoimmune hem... OMIM:618495
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276580
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Cronkhite-Canada Syndrome
Neoplasm, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Intestinal polyposis, Colon cance... ORPHA:2930
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... OMIM:613101
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Omenn Syndrome
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Lymphoma, Abnormal lym... ORPHA:39041
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, Thrombocytopenia, Pleuritis... ORPHA:47612
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cho... ORPHA:79301
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... ORPHA:2591
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... OMIM:150550
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract ORPHA:496790
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Gaucher Disease, Type Iii
Decreased body weight, Hepatomegaly, Splenomegaly, Short stature, Pancytopenia, Thrombocytopenia OMIM:231000
Yellow Nail Syndrome
Neoplasm, Renal neoplasm, Hypoplasia of lymphatic vessels, Neoplasm of the lung, Pleuritis, Bilia... ORPHA:662
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal pleura morphology, Abno... ORPHA:3162
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... OMIM:167800
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Short stature, Hepatomegaly, Splenomegaly ORPHA:2204
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... OMIM:602450
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Lymph... OMIM:614700
Hepatic Lipase Deficiency
Corneal arcus OMIM:614025
Common Variable Immunodeficiency
Abnormality of the liver, Lymphopenia, Gastrointestinal stroma tumor, Splenomegaly, Autoimmune th... ORPHA:1572
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Diffuse... ORPHA:276556
Sialidosis Type 1
Corneal opacity, Cataract ORPHA:812
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy ORPHA:42642
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymphatic system, Bil... ORPHA:1414
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoconus, Keratoglobus, Decreased corneal thickness OMIM:229200
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Autoimmune hemo... ORPHA:100026
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hepatomegaly, Splenomegaly, Hypereosinophilia, Laryngeal papilloma, Autoimmune... OMIM:617388
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Immunodeficiency 97 With Autoinflammation
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Neutropenia in presence of anti-neutr... OMIM:619802
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Splenomegaly, Short stature, Thrombocytopenia, Pancytopenia, Anemia, Diffuse a... OMIM:616050
Scheie Syndrome
Corneal opacity ORPHA:93474
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract ORPHA:309288
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, S... OMIM:224120
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Essential Thrombocythemia
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Immunodeficiency 32B
Bronchiectasis, Recurrent respiratory infections, Pneumonia, Splenomegaly OMIM:226990
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Short stature, Lymphadenitis, Hepatosplenomegal... OMIM:618935
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent upper and lower respiratory tract infections, Failure to thrive,... ORPHA:331206
Immunodeficiency 55
Lymphopenia, Short stature, Myelodysplasia, Absent natural killer cells, Neutropenia, Postnatal g... OMIM:617827
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Short stature, Cachexia, Refractory anemia with ringed sideroblasts, ... ORPHA:1133
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Microcytic ... OMIM:257200
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Werner Syndrome
Slender build, Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal n... ORPHA:902
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... ORPHA:231154
Gaucher Disease, Type Ii
Failure to thrive, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocyt... OMIM:230900
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... OMIM:613179
Fanconi Anemia, Complementation Group N
Medulloblastoma, Neuroblastoma, Nephroblastoma, Aplastic anemia, Postnatal growth retardation OMIM:610832
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Juvenile Sialidosis Type 2
Corneal opacity, Cataract ORPHA:93399
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Myelodysplasia, Weight loss, Acute my... ORPHA:71493
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Aniridia OMIM:612469
Wolman Disease
Hepatomegaly, Splenomegaly, Cachexia, Growth delay, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Lymphoma, Splenomegaly ORPHA:98375
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... ORPHA:90033
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea ORPHA:284160
Multiple Sulfatase Deficiency
Corneal opacity, Cataract ORPHA:585
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Weight ... ORPHA:507
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Zellweger Syndrome
Corneal opacity, Cataract, Brushfield spots, Posterior embryotoxon ORPHA:912
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Congenital Sialidosis Type 2
Corneal opacity, Cataract, Developmental cataract ORPHA:93400
Walker-Warburg Syndrome
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:899
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocyt... OMIM:611490
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Cystinosis
Corneal opacity ORPHA:213
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Pleural effusion, Azoospermia, A... OMIM:235200
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, B-cell lymphoma, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymu... OMIM:102700
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Transaldolase Deficiency
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Small for gestational age,... OMIM:606003
Mastocytosis
Hepatomegaly, Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Acute leukemia ORPHA:98292
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Cataract, Aniridia ORPHA:251038
Macrocephaly/Autism Syndrome
Obesity, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Fucosidosis
Corneal opacity ORPHA:349
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... ORPHA:231226
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Jaundice... OMIM:211600
Combined Immunodeficiency Due To Crac Channel Dysfunction
Neoplasm, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Pneumonia, Lymphadenopathy ORPHA:169090
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... ORPHA:93111
Sanjad-Sakati Syndrome
Corneal opacity, Astigmatism ORPHA:2323
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Decreased basophil count, Pancytopenia, Bronchiectasis, Recurrent sinopulmonary inf... OMIM:618394
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis ORPHA:1764
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Gaucher Disease, Type I
Multiple myeloma, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, Pancyto... OMIM:230800
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Thrombocytopenia, Hepa... ORPHA:905
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Astigmatism OMIM:301056
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duc... OMIM:613027
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly... OMIM:278000
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin... OMIM:266200
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... OMIM:612714
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Acromesomelic Dysplasia, Grebe Type
Disproportionate short-limb short stature, Sarcoma ORPHA:2098
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Corneal opacity, Cataract, Ocular albinism ORPHA:2719
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Polycythemia Vera
Hepatomegaly, Splenomegaly, Myelodysplasia, Portal hypertension, Weight loss, Acute leukemia ORPHA:729
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pulmonary interstitial morpholo... OMIM:612387
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Increased ... ORPHA:264580
Stromme Syndrome
Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:243605
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fib... OMIM:246200
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma,... ORPHA:370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Ja... OMIM:613812
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Short stature, Cirrhosis, Hepatocellula... ORPHA:79240
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryotoxon, Peters anomaly, Ocu... OMIM:612582
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Gm1 Gangliosidosis
Corneal opacity ORPHA:354
Kaposiform Lymphangiomatosis
Papilloma, Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Abnormalit... ORPHA:464329
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Autoimmune... OMIM:616100
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma OMIM:252600
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis, Cataract OMIM:158310
Hurler Syndrome
Corneal opacity, Opacification of the corneal stroma OMIM:607014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract OMIM:236670
3Mc Syndrome 3
Corneal opacity OMIM:248340
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Splenome... OMIM:618042
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Abnormal pulmonary interstitial morphology, Th... ORPHA:77259
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice OMIM:235555
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sc... OMIM:308230
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Sm... ORPHA:84064
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Recurrent upper respiratory tract inf... OMIM:612541
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic chol... OMIM:607765
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Weight lo... ORPHA:131
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Testicular neoplasm, Neoplasm of the breast, Obesity, Sarcoma, Neoplasm of the thyroid gland ORPHA:457059
Focal Dermal Hypoplasia
Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Iris coloboma ORPHA:2092
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Lymphadenitis, Hepatosplenomegaly... OMIM:260920
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract OMIM:251290
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:214110
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Mucopolysaccharidosis Type 1
Corneal opacity ORPHA:579
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile plugs, He... OMIM:617394
Fryns Syndrome