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Gene: Hacd3 MGI:1889341

Gene Summary

Name:

3-hydroxyacyl-CoA dehydratase 3

Synonyms:

Hspc121, Ptplad1, B-ind1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged spleen	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Hacd3^em1(IMPC)Mbp	HOM	Early adult	0.00
anophthalmia	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
eye hemorrhage	Hacd3^em1(IMPC)Mbp	HOM	Early adult	9.01×10^-05
abnormal liver morphology	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
cataract	Hacd3^em1(IMPC)Mbp	HOM	Early adult	6.14×10^-08
abnormal vitreous body morphology	Hacd3^em1(IMPC)Mbp	HOM	Early adult	6.74×10^-08
enlarged liver	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
small liver	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
microphthalmia	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal uterus morphology	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Hacd3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Hacd3^em1(IMPC)Mbp	HOM	Late adult	0.00
preweaning lethality, incomplete penetrance	Hacd3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased startle reflex	Hacd3^em1(IMPC)Mbp	HOM	Early adult	3.08×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Hacd3 mutations

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

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

Human diseases associated with Hacd3 (0 diseases)
Human diseases predicted to be associated with Hacd3 (1005 diseases)

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

The table below shows human diseases predicted to be associated to Hacd3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Vitreou...	OMIM:312700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism	OMIM:615524
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Retinopathy Of Prematurity	Vitreous hemorrhage, Tractional retinal detachment	ORPHA:90050
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn...	ORPHA:2470
Nathalie Syndrome	Arrhythmia, Cataract	ORPHA:2663
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor...	OMIM:221900
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Spastic Paraparesis And Deafness	Tremor, Cataract	OMIM:312910
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Gombo Syndrome	Microphthalmia	OMIM:233270
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular catara...	ORPHA:39044
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys...	ORPHA:464329
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrho...	OMIM:613313
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia, Enlarged kidney	OMIM:613885
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Mic...	OMIM:618805
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:231393
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Exudative Vitreoretinopathy 4	Vitreous hemorrhage, Subcapsular cataract, Tractional retinal detachment	OMIM:601813
Vitreoretinochoroidopathy	Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhag...	OMIM:193220
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia	ORPHA:721
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Microphthalmia, Hepatomegaly	OMIM:613730
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp...	OMIM:301045
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Galactosemia Ii	Cataract, Prolonged neonatal jaundice	OMIM:230200
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Nanophthalmos	Microphthalmia	ORPHA:35612
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Cholecystiti...	ORPHA:99827
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal...	OMIM:193235
Multiple Symmetric Lipomatosis	Hepatomegaly	ORPHA:2398
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Aplasia/Hypoplasia of the iris, Microphth...	ORPHA:290
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Phacoanaphylactic Uveitis	Hypopyon, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endothelium morphology,...	ORPHA:209959
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Anencephaly 2	Anophthalmia	OMIM:619452
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Cockayne Syndrome Type 2	Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism	ORPHA:90322
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Nanophthalmos 4	Microphthalmia	OMIM:615972
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Corneal opacity, Splenomegaly, Lymphadenopathy	ORPHA:79292
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Vitreous hemorrhage, Abnorma...	ORPHA:891
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis	OMIM:602390
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Exudative Vitreoretinopathy 1	Retinal detachment, Vitreous hemorrhage, Subcapsular cataract, Retinal neovascularization	OMIM:133780
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism	OMIM:608540
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris...	ORPHA:3378
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:121300
Nathalie Syndrome	Abnormal EKG, Cataract	OMIM:255990
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hydrolethalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Galactose Mutarotase Deficiency	Hepatomegaly, Decreased liver function, Cholestasis	ORPHA:570422
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez...	OMIM:617718
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Lujo Hemorrhagic Fever	Shock, Resting tremor, Excessive bleeding after a venipuncture, Myocarditis, Fulminant hepatitis,...	ORPHA:319213
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ...	OMIM:601186
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites	ORPHA:890
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation	ORPHA:158000
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen...	ORPHA:335
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Meckel Syndrome	Accessory spleen, Anophthalmia, Pancreatic fibrosis, True hermaphroditism, Asplenia, Congenital h...	ORPHA:564
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Gracile Bone Dysplasia	Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites	OMIM:602361
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,...	ORPHA:790
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis	OMIM:610125
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto...	OMIM:612840
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:77298
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly	OMIM:619053
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Abnormal vagina morphology, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato...	ORPHA:369
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:306000
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta...	OMIM:615184
Joubert Syndrome 37	Hepatomegaly, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size	OMIM:619185
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:139471
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Tremor, Pigmentary retinopathy, Abnormality of the liver, Intention tremor	OMIM:614307
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Central Retinal Vein Occlusion	Papilledema, Abnormal anterior eye segment morphology, Intraretinal hemorrhage, Macular degenerat...	ORPHA:411527
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Micropenis, Cryptorchidism	OMIM:613861
Marburg Hemorrhagic Fever	Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal...	ORPHA:99826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Choreoathetosis, Neu...	ORPHA:79312
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Leptospirosis	Hepatomegaly, Pericarditis, Papilledema, First degree atrioventricular block, Conjunctival hypere...	ORPHA:509
Macular Degeneration, Age-Related, 1	Geographic atrophy, Macular degeneration, Macular hemorrhage	OMIM:603075
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia	ORPHA:3469
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra...	ORPHA:340
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Anophthalmia, Cryptorchidism, Male hypogonadism, Anemia	ORPHA:90321
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Retinitis Pigmentosa 4	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy	OMIM:613731
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hepatic failure, Hepatic steatosis	OMIM:617872
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism	ORPHA:363741
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, Mi...	ORPHA:2538
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils	ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Babesiosis	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia	ORPHA:1046
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy...	ORPHA:1345
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Petechiae, Splenomegaly, Optic atrophy, Anemia,...	OMIM:611490
Mevalonic Aciduria	Splenomegaly, Cataract	ORPHA:29
Trisomy 1Q	Ambiguous genitalia, Cryptorchidism, Anophthalmia, Small scrotum	ORPHA:261344
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormally large globe, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, ...	ORPHA:1655
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Develo...	OMIM:620185
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Sti...	ORPHA:85212
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality	ORPHA:3191
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia	OMIM:606069
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy...	OMIM:606003
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism	ORPHA:899
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Microcephaly, Amish Type	Hypoplasia of the fovea, Hepatomegaly	OMIM:607196
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenome...	OMIM:230800
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, As...	OMIM:614034
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:601794
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Tremor, Splenomegaly, Arrhy...	ORPHA:99745
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st...	OMIM:615438
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Propionic Acidemia	Hepatomegaly	ORPHA:35
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port...	ORPHA:824
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu...	ORPHA:3226
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Pierpont Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:602342
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom...	OMIM:139090
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy	OMIM:613835
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Galactosemia I	Hepatomegaly, Hemolytic anemia, Hypergonadotropic hypogonadism, Elevated circulating aspartate am...	OMIM:230400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom...	OMIM:153670
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency...	ORPHA:2334
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu...	OMIM:300400
Vacterl With Hydrocephalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:3412
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Cryptorchidism, Abno...	ORPHA:3376
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Neuraminidase Deficiency	Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte...	OMIM:256550
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenome...	ORPHA:91138
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Cataract 47	Microcornea, Cataract	OMIM:612018
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa...	OMIM:206900
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia, Cardiomegaly	OMIM:618652
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microphthalmia, Microcytic anemia	OMIM:612379
Familial Drusen	Abnormality of retinal pigmentation, Macular atrophy, Reticular pigmentary degeneration, Granular...	ORPHA:75376
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Leukemia, Leukocoria	OMIM:180200
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Cataract, Tremor, Hematochezia, Pigmentary retinopathy, Cholestatic liver d...	ORPHA:79095
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm	OMIM:617883
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomeg...	ORPHA:829
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia	OMIM:617914
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Cryptorchidism, Microphthalmia	ORPHA:2162
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Refsum Disease	Splenomegaly, Microphthalmia	ORPHA:773
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:252920
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Sandhoff Disease, Infantile Form	Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin...	OMIM:192315
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Ascites, De...	ORPHA:367
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:435651
Lissencephaly 8	Microphthalmia	OMIM:617255
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Small scrotum	OMIM:610756
Mosaic Trisomy 9	Hypoplasia of penis, Asplenia, Cryptorchidism, Abnormal liver lobulation, Abnormality of the uter...	ORPHA:99776
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Pseudo-Torch Syndrome 1	Hepatomegaly, Cataract, Petechiae, Splenomegaly, Jaundice, Opacification of the corneal stroma, D...	OMIM:251290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia, Ascites,...	ORPHA:974
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension	ORPHA:79319
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Hepatic fibrosis, Aplasia of the uterus	OMIM:619879
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnorm...	OMIM:214500
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Myelofibrosis	Splenomegaly, Myeloproliferative disorder, Purpura	OMIM:254450
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Abdominal adhesions, Neutropenia, Microphthalmia, Lymphopenia	OMIM:616395
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis	ORPHA:79083
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia	ORPHA:90037
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Fraser Syndrome 1	Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Abnormal thymus morphology, ...	OMIM:219000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma	OMIM:212550
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal...	ORPHA:3318
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul...	OMIM:300972
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:612387
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lymphangiectasis	OMIM:602579
Bresek Syndrome	Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism	ORPHA:85284
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Cirrhosis,...	ORPHA:77259
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Buphth...	OMIM:610199
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Stiff-Person Syndrome	Tachycardia, Exaggerated startle response, Opisthotonus, Hypertension, Anemia	OMIM:184850
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Fibular Hemimelia	Anophthalmia, Thrombocytopenia	ORPHA:93323
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo...	OMIM:261680
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Cryptorchidism, Anophthalmia	ORPHA:1101
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di...	ORPHA:65681
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn...	ORPHA:2556
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Hyperekplexia 2	Exaggerated startle response, Astigmatism	OMIM:614619
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries	ORPHA:435660
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadeno...	ORPHA:540
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,...	ORPHA:2052
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Cockayne Syndrome Type 3	Hepatomegaly, Optic disc pallor, Cataract, Retinal atrophy, Splenomegaly, Subdural hemorrhage, Re...	ORPHA:90324
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism	ORPHA:228390
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia	OMIM:605627
Campomelia, Cumming Type	Pancreatic cysts, Hepatomegaly, Aplasia/Hypoplasia affecting the eye, Abnormality of the pancreas	ORPHA:1318
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Fanconi Anemia, Complementation Group R	Microphthalmia, Bone marrow hypocellularity, Anemia	OMIM:617244
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Small scrotum, Cryptorchidism	ORPHA:264200
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Dystonia, Tremor, Cong...	OMIM:615512
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal...	ORPHA:2969
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Macular de...	OMIM:177850
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Moebius Syndrome	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size	OMIM:157900
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size	OMIM:615663
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy	OMIM:609541
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Cardiomegaly, Hepatosplenome...	OMIM:268800
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ...	OMIM:617388
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis	OMIM:610829
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Hypogonadism, Decreased testicular size	OMIM:201100
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal...	ORPHA:809
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Microphthalmia, Vaginal at...	OMIM:273395
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy	ORPHA:320406
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Tremor, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Limb dystonia	ORPHA:25
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym...	OMIM:617591
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestas...	OMIM:615895
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Warburg Micro Syndrome 3	Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size	OMIM:614222
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron...	ORPHA:90033
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
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
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis	ORPHA:2328
Hyperekplexia 3	Exaggerated startle response, Syncope	OMIM:614618
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Cryptorchidism	OMIM:243310
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Labial hypoplasia, Mi...	ORPHA:138
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia	ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Dilated cardiomyopathy, Optic atrophy...	OMIM:253800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:494344
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Microphthalmia, Optic nerve hypoplasia, Neutropenia	OMIM:609053
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dystonia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, ...	OMIM:175780
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal...	ORPHA:71493
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism	OMIM:618494
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ...	ORPHA:79098
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Retinal detachment, Cataract, Abnormality of retinal p...	ORPHA:394
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Cataract	OMIM:620327
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Anterior chamber f...	ORPHA:91500
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters...	OMIM:243605
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope...	OMIM:600901
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Granu...	OMIM:608710
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcu...	OMIM:210250
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Microphthalmia	ORPHA:2510
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Hyphema, Optic atrophy, Microcornea,...	ORPHA:261552
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypert...	OMIM:616028
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Microphthalmia	OMIM:300166
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism	ORPHA:3301
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Microphallus, Micropht...	OMIM:603467
Monosomy 18P	Microphthalmia	ORPHA:1598
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Fanconi Anemia, Complementation Group A	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope...	OMIM:227650
Cockayne Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Retinal atrophy, Optic disc pallor, ...	ORPHA:191
Mosaic Trisomy 1	Microphthalmia, Micropenis, Penile hypospadias, Hepatic agenesis	ORPHA:1692
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Temtamy Syndrome	Microphthalmia	OMIM:218340
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht...	OMIM:147791
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Incontinentia Pigmenti	Retinal detachment, Cataract, Telangiectasia of the skin, Eosinophilia, Corneal opacity, Keratiti...	ORPHA:464
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis	OMIM:608885
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Polycystic ovaries, Microphthalmia, Congenital aphakia	ORPHA:137675
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Reticulocytopenia...	OMIM:227646
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Bone mar...	OMIM:227645
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Cryptorchidism	OMIM:248700
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Rodrigues Blindness	Microphthalmia	OMIM:268320
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia	ORPHA:141099
Incontinentia Pigmenti	Retinal detachment, Cataract, Eosinophilia, Keratitis, Leukocytosis, Optic atrophy, Retinal hemor...	OMIM:308300
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism	OMIM:244300
Charge Syndrome	Anophthalmia, Hypogonadotropic hypogonadism, External genital hypoplasia, Cryptorchidism, Unilate...	OMIM:214800
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Rift Valley Fever	Abnormal bleeding, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatitis, Melena...	ORPHA:319251
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy...	OMIM:608594
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Small scrotum, Cryptorchidism	ORPHA:2728
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Left ventricular hypertrop...	OMIM:619148
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepa...	OMIM:232220
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly	ORPHA:53715
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Clitoral hypertrophy	OMIM:616449
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Argininemia	Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis	OMIM:207800
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Ascites, Pancre...	OMIM:276700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:241410
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis	OMIM:617925
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Optic atrophy	OMIM:616881
Focal Dermal Hypoplasia	Anophthalmia, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Aniridia, Microphthalmia	OMIM:305600
Tay-Sachs Disease	Exaggerated startle response, Tremor, Optic atrophy, Hepatosplenomegaly, Dystonia, Laryngeal dyst...	ORPHA:845
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Microphthalmia	OMIM:110100
Steinfeld Syndrome	Microphthalmia, Absent gallbladder	OMIM:184705
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Microphthalmia, Micropenis, Anemia	OMIM:614083
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Cryptorchidism, Bilateral microphthalmos	ORPHA:369891
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Cholelithiasis, Male urethral meatus stenosis, Hypospadias	ORPHA:464738
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Pseudotrisomy 13 Syndrome	Microphthalmia, Micropenis, Bicornuate uterus, Cryptorchidism	OMIM:264480
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia	OMIM:608800
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Cryptorch...	ORPHA:84
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Exaggerated startle response, Dystonia, Hepatosplenomegaly	ORPHA:79255
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism	OMIM:612530
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h...	OMIM:309801
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia	OMIM:614653
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Martsolf Syndrome 1	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:212720
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Cryptorchidism, Duplication of internal organs, Microphthalmia, Ectopi...	OMIM:113620
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Cryptorchidism	ORPHA:1106
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi...	OMIM:618280
Cat Eye Syndrome	Microphthalmia, Biliary atresia	OMIM:115470
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Polyspl...	OMIM:229850
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Cockayne Syndrome B	Hepatomegaly, Splenomegaly, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Micropenis	OMIM:133540
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Cryptorchidism	OMIM:613001
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Fryns Syndrome	Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:284160
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Microphthalmia, Abnormal vagina morphology	OMIM:236680
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ...	OMIM:137920
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Microphthalmia, Lenz Type	Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:568
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary	OMIM:615300
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia	OMIM:607932
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:614230
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Cohen Syndrome	Cryptorchidism, Microphthalmia, Neutropenia	ORPHA:193
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism	OMIM:268400
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Mosaic Variegated Aneuploidy Syndrome	Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous genitalia, Microphthalmia, Ascites	ORPHA:1052
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy	OMIM:617301
Trichinellosis	Anisocoria, Conjunctival hyperemia, Conjunctivitis, Retinal hemorrhage	ORPHA:863
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias	ORPHA:65286
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Degcags Syndrome	Hepatomegaly, Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidism, Cholestas...	OMIM:619488
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Unilateral microphthalmos	OMIM:618874
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Hallermann-Streiff Syndrome	Microphthalmia, Abdominal situs inversus, Cryptorchidism	ORPHA:2108
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Rectovaginal fistul...	ORPHA:861
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Joubert Syndrome 2	Microphthalmia, Hypoplastic male external genitalia	OMIM:608091
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonada...	OMIM:618419
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Microphthal...	OMIM:603457
Cousin Syndrome	Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male	OMIM:260660
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi...	OMIM:223370
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,...	OMIM:263650
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	ORPHA:50
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Absent gallbladder	ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Microph...	OMIM:236670
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
22Q11.2 Deletion Syndrome	Hypospadias, Abnormality of the tonsils, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus, ...	ORPHA:567
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Acute hepatic failure	ORPHA:2092
Trisomy 18	Microphthalmia, Abnormal morphology of female internal genitalia, Cryptorchidism	ORPHA:3380
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Aplasia of the uterus, ...	OMIM:274000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Annular pancreas, Hypospadias, Cryptorchidism	OMIM:616975
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Dystonia	ORPHA:521426
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia	ORPHA:2166
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exocrine pancreatic...	OMIM:219700
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Frontorhiny	Microphthalmia	ORPHA:391474
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Optic nerve hypoplasia, Exocrine pancreatic insufficiency	ORPHA:508498
Pallister-Hall Syndrome	Precocious puberty, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size	OMIM:146510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Hepatomegaly, Hydrometrocolpos, Vaginal atresia	OMIM:617088
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	OMIM:304050
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism	ORPHA:250989
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia	OMIM:615574
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of th...	OMIM:614527
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Okamoto Syndrome	Splenomegaly, Bifid uterus, Abnormally large globe	ORPHA:2729
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism	ORPHA:251014
Basal Cell Nevus Syndrome 1	Microphthalmia, Ovarian fibroma, Ovarian carcinoma	OMIM:109400
Wolf-Hirschhorn Syndrome	Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ...	OMIM:194190
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Hydrocele testis, Prolonged neonatal jaundice, Microphthalmia, Right ventr...	OMIM:620186
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy	OMIM:617527
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Roberts Syndrome	Thrombocytopenia, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy	ORPHA:3103
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Monosomy 9Q22.3	Microphthalmia, Ovarian fibroma	ORPHA:77301
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Anemia	OMIM:127000
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina	ORPHA:2237
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Trichothiodystrophy	Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Go...	ORPHA:33364
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis	OMIM:609945
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a...	OMIM:268300
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:261112
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Yunis-Varon Syndrome	Hypospadias, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Mi...	ORPHA:3472
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Oculocerebrorenal Syndrome Of Lowe	Thrombocytopenia, Cryptorchidism, Buphthalmos, Azoospermia, Microphthalmia, Anemia	ORPHA:534
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Hypospadias, Cryptorchidism	OMIM:309800
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism	OMIM:616734
Mend Syndrome	Microphthalmia, Cryptorchidism	ORPHA:401973
Fontaine Progeroid Syndrome	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Left ventricular hypertrophy, Microphtha...	OMIM:612289
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus	ORPHA:468631
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Decreased testicular size, Anemia	ORPHA:93325
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:613884
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen	OMIM:100300
Pallister-Hall Syndrome	Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrometrocolpos, Aplasia/Hypopla...	ORPHA:672
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi...	ORPHA:857
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Neu-Laxova Syndrome 1	Cryptorchidism, Microphthalmia, Bifid uterus	OMIM:256520
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Decreased testicular size, Phimosis	OMIM:309500
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Cardiomegaly, Retinal hemorrhage, Hepatic calcification, Hypertension,...	ORPHA:51608
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi...	ORPHA:3464
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia	OMIM:130050
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Asplenia, Cryptorchidism, Hydrocele tes...	ORPHA:261537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Pulmonic stenosis, Dystonia, Anemia	ORPHA:438213
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Witteveen-Kolk Syndrome	Hypospadias, Unilateral cryptorchidism, Phimosis, Male urethral meatus stenosis, Microphallus, Mi...	OMIM:613406
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Asplenia, Cryptorchidism, Hydrocele tes...	ORPHA:2152
Coffin-Siris Syndrome 1	Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus	OMIM:135900
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia, Exocrine pancreatic insufficiency	ORPHA:508488
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome	Bifid scrotum, Microphthalmia, Hypospadias, Cryptorchidism	OMIM:235730
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse	ORPHA:286
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina...	OMIM:601803

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 Hacd3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Hacd3.

No publications found that use IMPC mice or data for Hacd3.

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MGI Allele	Allele Type	Produced
Hacd3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Hacd3^{tm373820(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hacd3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hacd3 MGI:1889341

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Hacd3 mutations

Histopathology

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The IMPC Newsletter

Access Data Release 20.1 Data