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Gene: Ccbe1 MGI:2445053

Gene Summary

Name:

collagen and calcium binding EGF domains 1

Synonyms:

4933426F18Rik, 9430093N24Rik

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
abnormal placenta morphology	Ccbe1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Ccbe1^em1(IMPC)Mbp	HOM	E15.5	0.00
pale liver	Ccbe1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Ccbe1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged uterus	Ccbe1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina vasculature morphology	Ccbe1^em1(IMPC)Mbp	HET	Early adult	4.09×10^-08
microphthalmia	Ccbe1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal uterus morphology	Ccbe1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina blood vessel morphology	Ccbe1^em1(IMPC)Mbp	HET	Early adult	1.84×10^-06
abnormal retina morphology	Ccbe1^em1(IMPC)Mbp	HET	Early adult	3.39×10^-05
microphthalmia	Ccbe1^em1(IMPC)Mbp	HOM	E15.5	0.00
persistence of hyaloid vascular system	Ccbe1^em1(IMPC)Mbp	HET	Early adult	1.51×10^-06
small liver	Ccbe1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Ccbe1^em1(IMPC)Mbp	HOM	Early adult	0.00
edema	Ccbe1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal eye morphology	Ccbe1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal liver morphology	Ccbe1^em1(IMPC)Mbp	HET	Early adult	0.00

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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

39 Images

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Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

1 Images

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Human diseases caused by Ccbe1 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 Ccbe1 (2 diseases)
Human diseases predicted to be associated with Ccbe1 (970 diseases)

The table below shows human diseases associated to Ccbe1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hennekam Lymphangiectasia-Lymphedema Syndrome 1		Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Lymphedema, ...	OMIM:235510
Hennekam Syndrome		Hydrops fetalis, Arteriovenous malformation, Lymphadenopathy, Chylothorax, Decreased circulating ...	ORPHA:2136

The table below shows human diseases predicted to be associated to Ccbe1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Lymphatic Malformation 9	Tortuous lymphatic vessels, Predominantly lower limb lymphedema	OMIM:619319
Gjc2-Related Late-Onset Primary Lymphedema	Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedem...	ORPHA:568051
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor	ORPHA:46532
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis	OMIM:606690
Yellow Nail Syndrome	Lymphedema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema	OMIM:153300
Lymphatic Malformation 5	Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema	OMIM:153200
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly...	OMIM:153100
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Gonadal dysgenesis, Retinal dysplasia	OMIM:615041
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Polyhydramnios, Hydrops fetalis, Splenomegaly, Abnormal hemoglobin, Pallor,...	ORPHA:163596
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor	ORPHA:517
Leishmaniasis	Skin ulcer, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Pan...	ORPHA:507
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Pallor, Anemia, Splenomegaly	ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Beta-Thalassemia	Skin ulcer, Anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemogl...	ORPHA:848
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Primary Myelofibrosis	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Extramedullary hematopoi...	ORPHA:824
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Lymphangiectasia, Intestinal	Edema, Stillbirth, Intestinal lymphangiectasia, Pedal edema	OMIM:152800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abn...	ORPHA:464329
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Lymphedema, Myeloprolif...	ORPHA:3226
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Purpura, Anemia, Petechiae, Abnormal lymphatic vessel morphology, Reticulocyt...	ORPHA:2330
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly...	OMIM:603552
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leuko...	OMIM:615285
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra...	OMIM:254450
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Hemolytic anemia	ORPHA:56425
Acute Peripheral Arterial Occlusion	Pallor, Leukocytosis, Stroke	ORPHA:90064
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Anemia, Sideroblastic, 1	Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,...	OMIM:300751
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Elliptocytosis 1	Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia	OMIM:611804
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Nanophthalmos	Microphthalmia	ORPHA:35612
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:613561
Transaldolase Deficiency	Cirrhosis, Hydrops fetalis, Anemia, Premature skin wrinkling, Coarctation of aorta, Thrombocytope...	ORPHA:101028
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Skin ulcer, Jaundice, Hepatomegaly, Cholelithiasis, Anemia o...	ORPHA:231222
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema	OMIM:616006
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Evans Syndrome	Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib...	ORPHA:1959
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu...	ORPHA:766
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Hereditary Spherocytosis	Skin ulcer, Anemia, Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corpus...	ORPHA:822
Preeclampsia/Eclampsia 1	Edema, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Foam cells, Elevated circulating alanine aminotransferase conc...	OMIM:269600
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia	OMIM:613977
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Fetal Parvovirus Syndrome	Hydrops fetalis, Anemia, Ascites, Increased nuchal translucency, Thrombocytopenia	ORPHA:295
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia, Pallor, Stroke	ORPHA:49827
Diffuse Neonatal Hemangiomatosis	Polyhydramnios, Hepatomegaly, Anemia, Hydrops fetalis, Ascites, Thrombocytopenia, Patent ductus a...	ORPHA:2123
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Stroke, Splenomegaly, Lymphopenia, Autoimmune throm...	ORPHA:444463
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor, Hemolytic anemia	OMIM:611590
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Foam cells with lamellar in...	OMIM:607616
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum...	ORPHA:98870
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Reticulocyt...	ORPHA:300298
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm...	ORPHA:100024
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia	OMIM:246400
Reticular Dysgenesis	Skin ulcer, Anemia, Decreased circulating antibody level, Dehydration, Leukopenia, Aplasia/Hypopl...	ORPHA:33355
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Hepatomegaly, Lymphangiectasis, Edema, Hepatic fibrosis, Hepatic failure	OMIM:602579
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Hydrops Fetalis, Nonimmune	Nonimmune hydrops fetalis, Hydrops fetalis, Anemia	OMIM:236750
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He...	OMIM:614470
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Tempi Syndrome	Facial erythema, Transudative pleural effusion, Increased circulating IgG level, Ascites, Polycyt...	ORPHA:284227
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy, Erythema	ORPHA:158014
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Hydrops fetalis, Cholelithiasis, Pleural...	ORPHA:846
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Edema, Microcytic anemia, Erythema	ORPHA:79278
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased circulating hemoglobin concentration, Cerebral hemorrhag...	OMIM:133100
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Petechiae, Impaired platelet aggregation, Thrombo...	OMIM:187800
Waldenström Macroglobulinemia	Normocytic anemia, Purpura, Hepatomegaly, Lymphadenopathy, Pedal edema, Vasculitis, Stroke, Pleur...	ORPHA:33226
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Decreased circulating ...	OMIM:226300
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, Thrombocytopenia, S...	ORPHA:158029
Chromomycosis	Edema, Lymphangiectasis, Lymphedema, Predominantly lower limb lymphedema	ORPHA:182
Nephronophthisis	Anemia	ORPHA:655
Immunodeficiency 102	Hepatomegaly, Anemia, Decreased circulating total IgM, Partial absence of specific antibody respo...	OMIM:301082
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor, Splenomegaly	ORPHA:90037
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Dominant Beta-Thalassemia	Cirrhosis, Skin ulcer, Hypochromic microcytic anemia, Jaundice, Decreased mean corpuscular hemogl...	ORPHA:231226
Yellow Nail Syndrome	Lymphedema, Hypoplasia of lymphatic vessels	ORPHA:662
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Dry skin, Bone marrow hypocellularity, Thrombocytop...	OMIM:618116
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Skin ulcer, Hypochromic microcytic anemia, Jaundice, Hepatomegaly...	ORPHA:231214
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Generalized edema, Intestinal lymphangiectasia	OMIM:207731
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Splenom...	OMIM:613313
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c...	ORPHA:231736
Donnai-Barrow Syndrome	Retinal dystrophy, Retinal detachment, Bicornuate uterus, Abnormality of the uterus, Iris coloboma	ORPHA:2143
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Increased circulating IgM level,...	ORPHA:37748
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Edema, Hemolytic anemia, Erythema, Hepatic failure	OMIM:177000
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM...	OMIM:209950
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutr...	OMIM:616738
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin...	ORPHA:90045
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Classic Mycosis Fungoides	Skin ulcer, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Dry skin, Splenomegaly...	ORPHA:2584
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Dehydration	ORPHA:28
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
American Trypanosomiasis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Periorbital edema, Edema, Pallor	ORPHA:3386
Congenital Toxoplasmosis	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, Hepat...	ORPHA:858
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly	OMIM:620296
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Pallor	ORPHA:90033
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopen...	OMIM:226990
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Sideroblastic anemia, Hypochromic anemia, Microcytic anemia, Erythroid hyperplasia, Pallor, Pappe...	OMIM:600462
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt...	OMIM:206100
Lymphatic Malformation 8	Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ...	OMIM:618773
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis, Hepatosplenomegaly...	OMIM:612840
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci...	OMIM:265300
Sepsis In Premature Infants	Decreased liver function, Purpura, Jaundice, Anemia, Hepatomegaly, Petechiae, Leukocytosis, Throm...	ORPHA:90051
Hemochromatosis, Type 3	Purpura, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Lymphopenia,...	OMIM:604250
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Idiopathic Pulmonary Hemosiderosis	Pallor, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Parkes Weber Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila...	ORPHA:90307
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Mastocytosis, Cutaneous	Edema, Cutaneous mastocytosis, Erythema	OMIM:154800
Stormorken-Sjaastad-Langslet Syndrome	Purpura, Anemia, Asplenia	ORPHA:3204
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hydrops fetalis, Macrocytic dyserythropoietic anemia, Anemia of inadequate producti...	OMIM:224120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Stroke, Dehydration, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Hydrops fetalis, Anemia of inadequate production, Persi...	OMIM:613673
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Dohle Bodies And Leukemia	Lymphedema, Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Anemia, Ascites, Splenomegaly, Oligohydramnios	ORPHA:1046
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto...	OMIM:616216
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Anemia, Cerebral hemorrhage	OMIM:614514
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Erythrocytosis, Familial, 2	Increased red blood cell mass, Stroke, Increased circulating hemoglobin concentration, Cerebral h...	OMIM:263400
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Congenital Heart Block	Hydrops fetalis, Pleural effusion, Pericardial effusion, Patent ductus arteriosus, Peripheral ede...	ORPHA:60041
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemi...	OMIM:617021
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Hepatomegaly, Polyhydramnios, Pancreatic lymphangiectasis, Lymphedema, Ascit...	OMIM:235255
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa...	OMIM:617300
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Mmep Syndrome	Microphthalmia	ORPHA:3434
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Predominantly lower limb lymphedema, Abnormality of the lympha...	ORPHA:2035
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Hepatic foam cells,...	OMIM:278000
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Dehydration, Thrombocytopenia, Leukopenia	ORPHA:27
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Cirrhosis, Mediastinal lymphadenopathy, Anemia, Pancytopenia, Bone marrow hypoce...	OMIM:614742
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pa...	ORPHA:20
Lymphatic Malformation 6	Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effu...	OMIM:616843
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Petechiae, Ecchymosis, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Leukocytosis, Ascites, Thrombocytopenia,...	ORPHA:457077
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,...	OMIM:615438
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Dry skin, Sp...	ORPHA:39041
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Isolated Agammaglobulinemia	Skin ulcer, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:229717
Rudiger Syndrome	Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Cinca Syndrome	Anemia, Lymphadenopathy, Lymphedema, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Facial edema	OMIM:618398
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Neonatal death, Thrombocyto...	OMIM:608104
Plummer-Vinson Syndrome	Pallor, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:54028
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Edema, Anemic pallor, Anemia	ORPHA:329971
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia	OMIM:616871
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Focal Segmental Glomerulosclerosis 1	Pleural effusion, Edema, Anemia, Ascites	OMIM:603278
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Idiopathic Hypereosinophilic Syndrome	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Angioedema, Splenomegal...	ORPHA:3260
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Coarctation of aorta, Th...	OMIM:606003
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Purpura, Jaundice, Anemia, Hemophagocytosis,...	ORPHA:540
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechia...	ORPHA:294
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increased circula...	ORPHA:3392
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia, Total anomalous pulmonary venous return	OMIM:618313
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Edema, Erythema	OMIM:619183
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Uterus didelphys, Hydrocolpos, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Dry...	ORPHA:3162
Beta-Ketothiolase Deficiency	Hepatomegaly, Dehydration, Leukocytosis, Edema, Pallor, Thrombocytosis	ORPHA:134
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Anemia, Dehydration, Elevated circulating alanine aminotransferase concentration, E...	OMIM:246450
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Prolidase Deficiency	Skin ulcer, Anemia, Hepatomegaly, Increased circulating antibody level, Petechiae, Prolonged neon...	OMIM:170100
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc...	ORPHA:98850
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal...	ORPHA:905
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia, Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str...	OMIM:194072
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Persis...	OMIM:619151
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Meige Disease	Edema of the dorsum of hands, Predominantly lower limb lymphedema, Varicose veins, Lymphedema, Pl...	ORPHA:90186
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Hemochromatosis, Type 4	Hepatic steatosis, Cirrhosis, Hepatomegaly, Anemia	OMIM:606069
Thymic Carcinoma	Palpebral edema, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Neoplasm of the thym...	ORPHA:99868
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Lymphedema, ...	OMIM:235510
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hepatomegaly, Abn...	ORPHA:83469
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal aortic morphology, Anemia, Hydrops fetalis	ORPHA:3405
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia	ORPHA:276575
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Congenital Enterovirus Infection	Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphology, Cholestasis, Leukocytosi...	ORPHA:292
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Splenomegaly,...	ORPHA:79477
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Hyperinsulinism Due To Ucp2 Deficiency	Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia	ORPHA:276556
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Klippel-Trénaunay Syndrome	Hepatomegaly, Hydrops fetalis, Venous insufficiency, Peripheral arteriovenous fistula, Ascites, P...	ORPHA:90308
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Elevated circulating hepatic t...	OMIM:603553
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Ecchymosi...	ORPHA:88
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level...	OMIM:304790
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Hereditary Elliptocytosis	Skin ulcer, Jaundice, Hydrops fetalis, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged...	ORPHA:288
Cinca Syndrome	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Sp...	ORPHA:1451
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Reduced ...	OMIM:616050
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Ovarian Fibrothecoma	Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis, Gonadal ...	ORPHA:314478
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia	ORPHA:276580
Optic Atrophy 1	Pallor	OMIM:165500
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D...	OMIM:275350
X-Linked Agammaglobulinemia	Skin ulcer, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocytop...	ORPHA:47
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal natural kille...	ORPHA:79124
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Tufted Angioma	Petechiae, Thrombocytopenia, Anemia, Purpura	ORPHA:1063
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, I...	OMIM:617591
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Hyperinsulinism Due To Hnf1A Deficiency	Pallor, Hepatomegaly	ORPHA:324575
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion	OMIM:613885
Senior-Loken Syndrome 8	Vascular dilatation, Intrahepatic bile duct dilatation, Hepatic cysts, Pallor, Pancreatic cysts	OMIM:616307
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Coronary artery atherosclerosis, Impaired plat...	OMIM:210250
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Periorbi...	ORPHA:514
Fumarase Deficiency	Intrahepatic cholestasis, Polyhydramnios, Ascites, Polycythemia, Pallor, Hepatic failure	OMIM:606812
Bazex Syndrome	Scaling skin, Anemia, Edema	ORPHA:166113
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Petechiae, Anemia of inadequate production, Poikilocytosis, Acanthocytosis, Congenital thrombocyt...	OMIM:300367
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen...	ORPHA:77259
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:600901
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Anemia	OMIM:618835
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Anemia	OMIM:618839
Microphthalmia/Coloboma 12	Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ...	OMIM:120200
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Generalized edema, Thrombocyto...	OMIM:267700
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Pallor, Neutropenia	OMIM:609053
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Vascular dilatation, Anemia, Neutropenia	OMIM:617056
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Cofs Syndrome	Microphthalmia	ORPHA:1466
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly, Bile duct proliferation	OMIM:611561
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Petechiae, Impaired ADP-induced platelet aggreg...	OMIM:153670
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227650
Immunodeficiency 22	Anemia, Decreased circulating IgE, Ascites, Decreased circulating IgG level, Decreased proportion...	OMIM:615758
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Q Fever	Abnormal vascular morphology, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulatin...	ORPHA:781
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Uterus didelphys, Hypoplasia of penis	ORPHA:2491
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema	OMIM:146255
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Irida Syndrome	Pallor, Intrahepatic cholestasis	ORPHA:209981
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Oligohydramnios	OMIM:619053
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytop...	OMIM:227645
Donnai-Barrow Syndrome	Retinal detachment, Bicornuate uterus, Retinal dystrophy, Iris coloboma	OMIM:222448
Caudal Duplication	Uterus didelphys, Abnormal penis morphology, Cryptorchidism	ORPHA:1756
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Bone marrow hypocellula...	OMIM:227646
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Acute Promyelocytic Leukemia	Purpura, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Leukocytosis, Leukopenia, Thrombocytop...	ORPHA:520
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Anemia, Erythema, Pyoderma gangrenosum	OMIM:608068
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	ORPHA:263455
Neuroblastoma	Anemic pallor, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:635
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Hepatomegaly, Polyhydramnios, Pancreatic lymphangiectasis, Ascites, Hepatosp...	ORPHA:1655
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Jaundice, Hydrops fet...	OMIM:620376
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Gillessen-Kaesbach-Nishimura Syndrome	Bicornuate uterus, Periportal fibrosis	OMIM:263210
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema, Cerebral edema	ORPHA:439218
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Thrombocytopenia, Decreased mean ...	ORPHA:160
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Pallor, Neutropenia	OMIM:277400
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function, Patent ductus arteriosus	ORPHA:30
Eosinophilic Gastroenteritis	Anemia, Ascites, Leukocytosis, Edema, Eosinophilia	ORPHA:2070
Infection-Related Hemolytic Uremic Syndrome	Pancreatitis, Pleural empyema, Leukocytosis, Generalized edema, Thrombocytopenia, Edema, Pallor, ...	ORPHA:544482
Lymphedema-Hypoparathyroidism Syndrome	Lymphedema, Pulmonary lymphangiectasia	OMIM:247410
Alveolar Echinococcosis	Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Increased circulating ant...	ORPHA:284
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly	OMIM:613730
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Tangier Disease	Anemia, Dry skin, Chronic noninfectious lymphadenopathy, Accelerated atherosclerosis, Coronary ar...	ORPHA:31150
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Stroke, Polycythemia, Pallor, Macular ed...	ORPHA:892
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris	ORPHA:290
Orthostatic Hypotension 2	Anemia	OMIM:618182
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia	OMIM:618165
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen, Thrombocytopenia,...	OMIM:185070
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Combined Oxidative Phosphorylation Deficiency 41	Nonimmune hydrops fetalis, Anemia	OMIM:618838
Non-Functioning Paraganglioma	Pallor, Cerebral hemorrhage	ORPHA:94080
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Bile duct proliferation	OMIM:603194
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Skin ulcer, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentra...	OMIM:615688
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Hemochromatosis, Type 5	Elevated hepatic iron concentration, Anemia	OMIM:615517
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pulmonary artery stenosis, Splenomegaly, Pallor	ORPHA:667
Pierpont Syndrome	Microphthalmia	OMIM:602342
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Adenohypophysitis	Pallor, Normochromic anemia	ORPHA:95512
Dravet Syndrome	Pallor	ORPHA:33069
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia	OMIM:620365
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal neovascularization, Retinal cotton wool spot, Abnormality of the hepatic vasculature, Abn...	ORPHA:247691
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Senior-Boichis Syndrome	Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Cholestasis, Ascites,...	ORPHA:84081
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Hartsfield Syndrome	Microphthalmia, Encephalocele	ORPHA:2117
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Anemia, Pancytopenia, Dehydration, Thrombocytopenia, Neutropenia	OMIM:251110
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Panhypophysitis	Pallor, Normochromic anemia	ORPHA:95513
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra...	OMIM:260400
Oslam Syndrome	Anemia	OMIM:165660
Omodysplasia 2	Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidism, Micropenis	OMIM:164745
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Osteootohepatoenteric Syndrome	Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholestasis, Dehydration, Prolonged ne...	OMIM:619377
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat...	OMIM:300755
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Ple...	ORPHA:67
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Gaisböck Syndrome	Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin...	ORPHA:90041
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Patent ductus arteriosus, Hypoplasi...	OMIM:612541
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Pituitary Apoplexy	Pallor, Normochromic anemia	ORPHA:95613
Persistent Hyperplastic Primary Vitreous	Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas...	ORPHA:91495
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Anemia, Pancytopenia, Dehydration, Thrombocytopenia, Neutropenia	OMIM:251100
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Bile duct proliferation	OMIM:611134
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Fructose-1,6-Bisphosphatase Deficiency	Hepatic steatosis, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:348
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Kikuchi-Fujimoto Disease	Palpebral edema, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated ...	ORPHA:50918
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen	OMIM:602361
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Septate vagina, Rod-cone dystrophy	ORPHA:2237
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia	ORPHA:2189
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia	OMIM:191830
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas...	OMIM:154230
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, Micropenis, Pigm...	OMIM:309801
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon...	ORPHA:432
Denys-Drash Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod...	OMIM:194080
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Sheehan Syndrome	Pallor, Dry skin, Normochromic anemia	ORPHA:91355
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Jaundice, Elevated circulating hepatic transaminase concentration, Hypospadi...	ORPHA:93111
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia	ORPHA:3191
Degcags Syndrome	Hepatomegaly, Anemia, Iron deficiency anemia, Polyhydramnios, Pancytopenia, Abnormal spleen morph...	OMIM:619488
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Microphthalmia, Umbilical hernia	ORPHA:2505
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Macular dystrophy, Clitoral hypertrophy, Retinal dystrophy, Labial hypoplasia, Bicornuate uterus	ORPHA:140952
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Tay-Sachs Disease	Pallor, Cherry red spot of the macula	OMIM:272800
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Lysosomal Acid Lipase Deficiency	Decreased liver function, Jaundice, Anemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:275761
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Hennekam Syndrome	Hydrops fetalis, Arteriovenous malformation, Lymphadenopathy, Chylothorax, Decreased circulating ...	ORPHA:2136
Cone-Rod Dystrophy 8	Pallor, Retinal arteriolar constriction	OMIM:605549
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Costello Syndrome	Polyhydramnios, Lymphangiectasis	OMIM:218040
Gaucher Disease Type 3	Hepatomegaly, Anemia, Increased circulating antibody level, Hydrops fetalis, Pancytopenia, Perica...	ORPHA:77261
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Monosomy 18P	Microphthalmia, Lymphedema	ORPHA:1598
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Trisomy 13	Hydrops fetalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ...	OMIM:612301
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia	ORPHA:935
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia, Jaundice	OMIM:105600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Ehlers-Danlos Syndrome, Classic-Like, 1	Bicornuate uterus, Ambiguous genitalia, female	OMIM:606408
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Rod-cone dystrophy, Hypoplasia of the ...	OMIM:618419
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Oligohydramnios, Increased nuchal translucency	OMIM:618494
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hypospadias, Pancreatic hypoplasia, Bico...	OMIM:137920
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Encephalocele, Ascites, Portal hypertension, Congenital hepatic fibrosis	ORPHA:974
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Joubert Syndrome 37	Microphthalmia, Hepatomegaly	OMIM:619185
Pagod Syndrome	Optic atrophy, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uteru...	ORPHA:991
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Rheumatic Fever	Pallor, Erythema	ORPHA:3099
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Lymphedema, Nonimmune hydrops fetalis, Pulmonary lymphangiectasia	OMIM:137940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Brucellosis	Lung abscess, Purpura, Liver abscess, Anemia, Lymphadenopathy, Arteritis, Hepatomegaly, Increased...	ORPHA:1304
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Incontinentia Pigmenti	Eosinophilia, Pallor, Leukocytosis, Erythema	OMIM:308300
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Teebi Hypertelorism Syndrome 1	Shawl scrotum, Bicornuate uterus, Hydrocele testis	OMIM:145420
Arteriosclerosis, Severe Juvenile	Calcification of the aorta, Central retinal vessel vascular tortuosity, Anemia, Arteriosclerosis	OMIM:208060
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Wiskott-Aldrich Syndrome	Acute leukemia, Purpura, Skin ulcer, Anemia, Petechiae, Abnormal eosinophil morphology, Vasculiti...	ORPHA:906
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Elevated circulating hepatic transaminase concentration	OMIM:612379
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Rodrigues Blindness	Microphthalmia	OMIM:268320
Prune Belly Syndrome	Decreased testicular size, Cryptorchidism, Urogenital sinus anomaly, Abnormality of the uterus	ORPHA:2970
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Hand-Foot-Genital Syndrome	Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis	OMIM:140000
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Duplication Of Urethra	Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy...	ORPHA:237
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia, Increased nuchal translucency, Hepatic fibrosis, Oligohy...	OMIM:619879
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Pseudotrisomy 13 Syndrome	Cyclopia, Cryptorchidism, Micropenis, Bicornuate uterus	OMIM:264480
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Cerebral hemorrhage	ORPHA:276621
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorr...	OMIM:609049
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Histiocytoid Cardiomyopathy	Stroke-like episode, Pallor, Hepatomegaly, Pulmonary edema	ORPHA:137675
Mosaic Trisomy 9	Microphthalmia, Hydrops fetalis, Polyhydramnios, Abnormal liver lobulation, Spina bifida, Aspleni...	ORPHA:99776
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries	ORPHA:785
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia, Syndromic 9	Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u...	OMIM:601186
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Hepatoc...	OMIM:276700
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Acro-Renal-Mandibular Syndrome	Uterus didelphys, Bicornuate uterus	ORPHA:958
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Retinal det...	ORPHA:649
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Rhombencephalosynapsis	Abnormality of the uterus, Septo-optic dysplasia	ORPHA:59315
Temtamy Syndrome	Microphthalmia	OMIM:218340
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Heart And Brain Malformation Syndrome	Microphthalmia, Polyhydramnios	OMIM:616920
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia, Aortic aneurysm, Stroke, Aortic dissection, Cerebral ...	OMIM:175050
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Accessory spleen, Anophthalmia, Asplenia, Oligohydram...	ORPHA:564
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Blau Syndrome	Large vessel vasculitis, Skin ulcer, Anemia, Lymphadenopathy, Aortic aneurysm, Xerostomia, Dry sk...	ORPHA:90340
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Moebius Syndrome	Microphthalmia	OMIM:157900
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Frontofacionasal Dysplasia	Microphthalmia, Encephalocele	ORPHA:1791
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Microsporidiosis	Prostatitis, Pancreatitis, Cholangitis, Abnormal fallopian tube morphology, Abnormal endometrium ...	ORPHA:2552
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Congenital Fibrinogen Deficiency	Splenic rupture, Microphthalmia	ORPHA:335
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Cerebral hemorrhage	ORPHA:29072
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus	OMIM:615866
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
46,Xx Gonadal Dysgenesis	Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary	ORPHA:243
Meacham Syndrome	Blind vagina, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina	OMIM:608978
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina	OMIM:300707
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Partial anomalous pulmonary venous return, Polyhydramnios, Hypoplastic aortic a...	OMIM:265380
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele	OMIM:614424
Alternating Hemiplegia Of Childhood	Pallor, Dehydration	ORPHA:2131
Esophageal Atresia	Pallor, Polyhydramnios, Tetralogy of Fallot, Coarctation of aorta	ORPHA:1199
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Polyhydramnios, Septo-optic dysplasia	ORPHA:3301
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Refsum Disease	Microphthalmia, Splenomegaly	ORPHA:773
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ...	OMIM:618820
Mosaic Trisomy 1	Hepatic agenesis, Microphthalmia, Polyhydramnios, Increased nuchal translucency	ORPHA:1692
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Alg9-Cdg	Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Bicornuate uterus, Hepatic cysts	ORPHA:79328
Chondrodysplasia Punctata 2, X-Linked Dominant	Edema, Microphthalmia, Polyhydramnios	OMIM:302960
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut...	OMIM:614527
Fryns Syndrome	Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Frontonasal Dysplasia 2	Microphthalmia, Oligohydramnios, Encephalocele	OMIM:613451
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Cirrhosis, Hepatic steatosis, Penoscrotal hypospadias, Hypospadias, He...	OMIM:270400
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Septate vagina, Micropenis, Absent gallbladder	OMIM:617925
Fanconi Anemia	Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuate uterus, Abnormal testis morph...	ORPHA:84
Vacterl With Hydrocephalus	Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida	ORPHA:3412
Schinzel-Giedion Midface Retraction Syndrome	Hypospadias, Hypoplastic labia minora, Bicornuate uterus, Splenopancreatic fusion, Hepatoblastoma...	OMIM:269150
Galloway-Mowat Syndrome 3	Edema, Microphthalmia, Oligohydramnios	OMIM:617729
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Prolactinoma	Pallor	ORPHA:2965
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Multiple Endocrine Neoplasia Type 2	Pallor, Neoplasm of the liver, Cervical lymphadenopathy	ORPHA:653
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Beaulieu-Boycott-Innes Syndrome	Endometriosis	OMIM:613680
Opitz Gbbb Syndrome	Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries, Cryptorchidism	ORPHA:2745
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Anemia, Pancytopenia, Stroke, Abnormal erythrocyte enzyme concentration or activity, Re...	ORPHA:447
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system	OMIM:620185
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Microcephaly-Micromelia Syndrome	Microphthalmia, Oligohydramnios	OMIM:251230
Hermansky-Pudlak Syndrome 6	Endometriosis, Perineal fistula, Absent foveal reflex, Macular hypoplasia, Ocular albinism	OMIM:614075
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Cat Eye Syndrome	Microphthalmia, Biliary atresia, Umbilical hernia	OMIM:115470
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Acrorenal-Mandibular Syndrome	Uterus didelphys, Bicornuate uterus, Unicornuate uterus	OMIM:200980
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Bartsocas-Papas Syndrome 1	Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt...	OMIM:263650
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Hereditary Hemorrhagic Telangiectasia	Cirrhosis, Hepatic arteriovenous malformation, Arteriovenous malformation, Anemia, Gastrointestin...	ORPHA:774
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele	OMIM:619148
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Fryns Syndrome	Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc...	OMIM:229850
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Currarino Syndrome	Septate vagina, Bicornuate uterus, Rectovaginal fistula	OMIM:176450
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t...	ORPHA:3464
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Papillorenal Syndrome	Edema, Microphthalmia	OMIM:120330
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Spina bifida, Acute hepatic failure, Umbilical hernia	ORPHA:2092
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Remnants of the hyaloid vascular system, Septate vagina, Cryptor...	OMIM:300166
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Polyhydramnios, Encephalocele, Umbilical hernia	ORPHA:2166
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum, Unilateral crypt...	OMIM:618280
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Micropenis, Hypospadias, Endometriosis	ORPHA:363444
Telangiectasia, Hereditary Hemorrhagic, Type 2	Ischemic stroke, Spinal arteriovenous malformation, Hepatic arteriovenous malformation, Anemia, G...	OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1	Ischemic stroke, Spinal arteriovenous malformation, Hepatic arteriovenous malformation, Anemia, G...	OMIM:187300
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Peters-Plus Syndrome	Bilobate gallbladder, Hypospadias, Hypoplastic labia majora, Clitoral hypoplasia, Retinal colobom...	OMIM:261540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Remnants of the hyaloid vascular system, Epiretinal membrane, Abnormal optic n...	ORPHA:637
Micro Syndrome	Microphthalmia	ORPHA:2510
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Waardenburg Syndrome	Abnormality of the uterus, Abnormal vagina morphology	ORPHA:3440
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Transposition of the great arteries, He...	ORPHA:99125
Fanconi Anemia, Complementation Group F	Microphthalmia, Polyhydramnios	OMIM:603467
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Chorioreti...	OMIM:107480
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext...	ORPHA:90794
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Edema	ORPHA:2526
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Accessory spleen, Asplenia,...	OMIM:249000
Trisomy 18	Microphthalmia, Oligohydramnios, Anencephaly, Spina bifida	ORPHA:3380
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Galloway-Mowat Syndrome 1	Microphthalmia, Oligohydramnios, Hypoplasia of the iris	OMIM:251300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Encephalocele	OMIM:253800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal...	OMIM:620005
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Joubert Syndrome 2	Microphthalmia, Encephalocele	OMIM:608091
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor	ORPHA:91347
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Cholelithiasis	ORPHA:464738
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis	ORPHA:268249
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Spina bifida, Hydranencephaly	ORPHA:2839
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Spina bifida occulta	OMIM:607323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Oligohydramnios	ORPHA:364577
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos	OMIM:236670
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia, Accessory spleen	OMIM:243605
Hydrolethalus Syndrome 1	Accessory spleen, Bifid uterus, Hypospadias, Abnormal vagina morphology	OMIM:236680
Holoprosencephaly	Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Abnormality of the spleen, Spinal...	ORPHA:2162
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Polyhydramnios, Ascites, Increased nuchal translucency	ORPHA:1052
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of the uterus, Cryptorchidism, Non-...	ORPHA:2232
Cohen Syndrome	Microphthalmia	ORPHA:193
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Fraser Syndrome	Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher...	ORPHA:2052
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Cryptorchidism, Micropenis	OMIM:219000
Cousin Syndrome	Microphthalmia, Hydranencephaly	OMIM:260660
Peters Plus Syndrome	Optic atrophy, Hypospadias, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus, Iris c...	ORPHA:709
Okamoto Syndrome	Bifid uterus, Splenomegaly	ORPHA:2729
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Ulnar-Mammary Syndrome	Cryptorchidism, Abnormality of the uterus, Hypoplasia of penis	ORPHA:3138
Ehlers-Danlos Syndrome, Vascular Type	Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi...	OMIM:256520
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Abnormality of the spleen, Anophthalmia	ORPHA:2538
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Macular hypoplasia	OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Encephalocele	OMIM:616300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Exocrine pancreatic insufficiency, Spina bifida	ORPHA:508498
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Steinfeld Syndrome	Absent gallbladder, Microphthalmia	OMIM:184705
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Congenital hepatic fibrosis, Ambig...	ORPHA:93271
Fanconi Anemia, Complementation Group L	Aplasia of the uterus, Micropenis	OMIM:614083
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Accessory spleen, Coloboma,...	OMIM:268300
Acrofacial Dysostosis 1, Nager Type	Bicornuate uterus	OMIM:154400
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Thrombocytopenia-Absent Radius Syndrome	Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly	OMIM:274000
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali...	OMIM:194190
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
22Q11.2 Deletion Syndrome	Microphthalmia, Polyhydramnios, Cholelithiasis, Meningocele, Spina bifida, Splenomegaly, Umbilica...	ORPHA:567
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Dehydration, Umbilical hernia, Joint swelling, Buphthalmos	ORPHA:534
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Portal hypertension, Unicornuate uterus, Hepatosplenomegaly, Hepatic steatosis, Cryp...	OMIM:619503
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Prolonged neonatal jaundice, Microphthalmia, Polyhydramnios, Branchial cyst	OMIM:620186
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris	OMIM:223370
Ulnar-Mammary Syndrome	Imperforate hymen, Bicornuate uterus, Small scrotum, Shawl scrotum, Micropenis	OMIM:181450
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Spina bifida	OMIM:304050
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:90324
Cockayne Syndrome B	Microphthalmia, Hepatomegaly, Splenomegaly, Hypoplasia of the iris	OMIM:133540
Hallermann-Streiff Syndrome	Microphthalmia, Abdominal situs inversus	ORPHA:2108
Renal Agenesis	Aplasia/hypoplasia of the uterus, Absent vas deferens	ORPHA:411709
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia	OMIM:268400
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Treacher-Collins Syndrome	Microphthalmia, Branchial fistula, Encephalocele	ORPHA:861
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Townes-Brocks Syndrome	Hypospadias, Rectovaginal fistula, Abnormal vagina morphology, Hypoplasia of penis, Bifid scrotum...	ORPHA:857
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Holoprosencephaly 2	Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Trichothiodystrophy	Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Aicardi Syndrome	Hepatoblastoma, Microphthalmia	ORPHA:50
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia	OMIM:616975
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Occipital meningocele	OMIM:610828
Neuroocular Syndrome	Lens coloboma, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Roberts Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3103
Charge Syndrome	Microphthalmia, Polyhydramnios, Anophthalmia, Umbilical hernia	ORPHA:138
Cockayne Syndrome	Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:191
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Oligohydramnios	OMIM:608670
Yunis-Varon Syndrome	Bilateral microphthalmos, Polyhydramnios, Microphthalmia, Hydrops fetalis, Increased nuchal trans...	ORPHA:3472
Myhre Syndrome	Pericardial effusion, Microphthalmia	OMIM:139210
Fontaine Progeroid Syndrome	Microphthalmia, Oligohydramnios, Umbilical hernia	OMIM:612289
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse	OMIM:123700
Cowden Syndrome	Enlarged polycystic ovaries, Endometrial carcinoma, Abnormality of the uterus, Abnormal penis mor...	ORPHA:201
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Bicornuate uterus	ORPHA:2363
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Occipital meningocele, Anophthalmia	OMIM:610829
Mend Syndrome	Microphthalmia	ORPHA:401973
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism	ORPHA:286
Monosomy 9P	Microphthalmia	ORPHA:261112
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Umbilical hernia	OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Uterine prolapse, Cryptorchidism, Optic disc pallor	ORPHA:438213
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:468631
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias	OMIM:135900
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele	OMIM:100300
Charge Syndrome	Microphthalmia, Polyhydramnios, Anophthalmia, Unilateral microphthalmos, Umbilical hernia	OMIM:214800
Tetraamelia Syndrome 1	Microphthalmia, Asplenia	OMIM:273395
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Exocrine pancreatic insuf...	ORPHA:508488
Witteveen-Kolk Syndrome	Microphthalmia, Polyhydramnios, Branchial fistula	OMIM:613406
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Pallister-Hall Syndrome	Microphthalmia, Oligohydramnios, Umbilical hernia	ORPHA:672
Cornelia De Lange Syndrome	Hypospadias, Hypoplasia of penis, Abnormality of the uterus, Cryptorchidism, Hypoplastic labia ma...	ORPHA:199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Classical Ehlers-Danlos Syndrome	Cervical insufficiency, Uterine prolapse	ORPHA:287
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Coffin-Lowry Syndrome	Uterine prolapse	OMIM:303600
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Branchiooculofacial Syndrome	Branchial anomaly, Microphthalmia, Anophthalmia	OMIM:113620
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum...	OMIM:601803
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Aneurysm-Osteoarthritis Syndrome	Uterine prolapse	ORPHA:284984
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	OMIM:175780
Loeys-Dietz Syndrome 3	Cystocele, Uterine prolapse	OMIM:613795
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Asplenia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia, Asplenia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Asplenia	ORPHA:261552
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800

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 Ccbe1

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 Ccbe1.

No publications found that use IMPC mice or data for Ccbe1.

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MGI Allele	Allele Type	Produced
Ccbe1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Ccbe1^{tm46161(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Ccbe1 MGI:2445053

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Ccbe1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data