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Gene: Pknox1 MGI:1201409

Gene Summary

Name:

Pbx/knotted 1 homeobox

Synonyms:

D17Wsu76e, PREP1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased hemoglobin content	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	3.43×10^-08
decreased IgG1 level	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	9.98×10^-05
decreased circulating triglyceride level	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	5.94×10^-05
decreased B cell number	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	4.72×10^-05
decreased mean corpuscular hemoglobin concentration	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	2.95×10^-06
decreased T cell number	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	6.13×10^-05
decreased mature B cell number	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	6.01×10^-08
abnormal urination	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	3.65×10^-05

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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.

Phenotype associated images not available

Human diseases caused by Pknox1 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 Pknox1 (0 diseases)
Human diseases predicted to be associated with Pknox1 (804 diseases)

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

The table below shows human diseases predicted to be associated to Pknox1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Transcobalamin Deficiency	Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti...	ORPHA:859
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Increased circulating antibody le...	OMIM:247800
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin, Anemia	OMIM:617409
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f...	ORPHA:163596
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Immunodeficiency 102	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen...	OMIM:301082
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S...	ORPHA:90064
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Macular degeneration, Pallor	OMIM:610381
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red...	OMIM:266200
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Pallor	OMIM:609021
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Jaundice, Anemi...	ORPHA:858
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxysmal atr...	ORPHA:49827
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody leve...	ORPHA:100024
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia, Pallor, Hyperpigmentation of the skin	ORPHA:75563
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund...	ORPHA:290
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci...	OMIM:619510
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h...	OMIM:615234
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnormality of humor...	ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Edema, Hypertension, Intrauterine growth retardation, Thrombocytop...	OMIM:189800
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro...	ORPHA:295
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pallor, Hypertrophic cardiomyo...	OMIM:613561
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus	OMIM:616622
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre...	ORPHA:1959
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ...	ORPHA:3226
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Splenom...	ORPHA:824
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Miscarriage, Edema, Retinal pigment epithelial mottling, ...	ORPHA:448237
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ...	OMIM:618986
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ...	OMIM:616005
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Glutathione Synthetase Deficiency	Hemolytic anemia, Pigmentary retinopathy, Neutropenia	OMIM:266130
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased pro...	OMIM:619802
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Pigmentary retinopathy, Cardiomyopathy	OMIM:609016
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Pallor, Hyp...	OMIM:600462
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation	ORPHA:85194
Immunodeficiency 96	Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Decreased circulating ...	OMIM:619774
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m...	ORPHA:98870
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Pallor, Hypopigmentation of the ...	ORPHA:2786
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease...	OMIM:300853
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy, Pallor	OMIM:613341
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri...	ORPHA:822
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Cofs Syndrome	Abnormality of retinal pigmentation, Death in infancy, Cataract, Optic atrophy, Microphthalmia, I...	ORPHA:1466
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:603909
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem...	ORPHA:86839
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, High-output congestive hear...	ORPHA:231226
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc...	ORPHA:231214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula...	OMIM:602450
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Optic Atrophy 1	Optic atrophy, Pallor	OMIM:165500
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Dermatitis, Atopic	Keratoconus, Cataract, Facial erythema, Conjunctivitis, Pallor, Dry skin	OMIM:603165
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy, Pallor	OMIM:612989
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Pallor, Poikilocytosis, Prol...	OMIM:300908
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De...	OMIM:615559
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas...	OMIM:618048
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis, Hy...	ORPHA:3156
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Hepatosplenomegaly	OMIM:312500
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Pallor, Rod-cone dystrophy, Attenu...	OMIM:613464
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor	OMIM:611590
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Transaldolase Deficiency	Edema, Thrombocytopenia, Hydrops fetalis, Telangiectasia, Hepatosplenomegaly, Cirrhosis, Prematur...	ORPHA:101028
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor	ORPHA:90037
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Congest...	OMIM:613313
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Seve...	OMIM:102700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ...	OMIM:150550
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Dilated cardiomyopathy, Intrauterine growth retardation	ORPHA:2515
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Erythema, Ma...	ORPHA:816
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Edema, Splenomegaly, Jaundice, Thrombocytopenia, Conjunctivitis, Hemophagocytosis, ...	OMIM:603552
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
American Trypanosomiasis	Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congestive heart failure, Card...	ORPHA:3386
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Thrombocytopenia, ...	OMIM:617021
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased...	ORPHA:98813
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anem...	ORPHA:99931
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Hyperpigmentation of the skin, Cardiomyopathy, Cirrhosis, Arrhythmia, Hep...	OMIM:606069
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, A...	OMIM:204000
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia, Death in childhood	OMIM:246450
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Cutis laxa, Abnormalit...	OMIM:612379
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Mulibrey Nanism	Hepatomegaly, Corneal dystrophy, Congestive heart failure, Hydrops fetalis, Pigmentary retinopath...	OMIM:253250
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Multiple cafe-au-lait spots, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ...	ORPHA:485
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thrombo...	ORPHA:2123
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Petechiae, Edema, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopen...	ORPHA:90051
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276575
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Diffuse hepat...	OMIM:264470
Ataxia-Telangiectasia	Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Decreased circulating Ig...	OMIM:208900
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Facial erythema, Increase...	ORPHA:284227
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276556
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc...	OMIM:301078
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Decreased cir...	OMIM:215250
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c...	OMIM:613011
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Weill-Marchesani Syndrome 3	Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten...	OMIM:614819
Alg8-Cdg	Elevated hepatic transaminase, Cataract, Edema, Optic atrophy, Hydrops fetalis, Cutis laxa, Anemi...	ORPHA:79325
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Pallor, Rod-cone d...	OMIM:617023
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276580
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph...	OMIM:620210
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ...	ORPHA:397596
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci...	OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm...	ORPHA:276
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul...	OMIM:209950
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Edema, Thrombocytopenia, Patent ductus arteriosus, Cholestasis, D...	OMIM:608104
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism	OMIM:614514
Non-Functioning Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Po...	ORPHA:94080
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Jaundice,...	ORPHA:20
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly...	ORPHA:169160
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hyperpigmentation of the skin, Cardiomyopathy, Cirrhosis, Neutrope...	OMIM:604250
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,...	OMIM:275350
Immunodeficiency 22	Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion...	OMIM:615758
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma, Microphthalmia	OMIM:251505
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Pgm3-Cdg	Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T...	ORPHA:443811
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Autosomal Erythropoietic Protoporphyria	Edema, Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Por...	ORPHA:3202
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Dehydration, Leukopenia, Cardio...	ORPHA:27
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg...	ORPHA:324416
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, M...	OMIM:618234
Srd5A3-Cdg	Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Microcytic anemia, Optic atrophy,...	ORPHA:324737
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level	OMIM:618495
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia	OMIM:616176
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Dehydration, Cardiomyopathy, Neutrop...	ORPHA:79312
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauteri...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal d...	OMIM:618839
Sea-Blue Histiocytosis	Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin, Petechiae, Edema, Sple...	ORPHA:158029
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Anemia	OMIM:617408
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Astigmatism, Pallor, Neutropenia, Microphthalmia, Intrauterine growth ret...	OMIM:609053
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Pallor	ORPHA:90036
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Anemic pallor, Anemia, Edema	ORPHA:329971
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Iris coloboma, Ectopia lentis	ORPHA:1259
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Card...	OMIM:222300
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Focal Segmental Glomerulosclerosis 1	Edema, Hypertension, Pleural effusion, Ascites, Anemia	OMIM:603278
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Abnormality of the liver, Rod-cone dystrophy, Cataract	OMIM:614307
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Optic disc pallor, Petechiae, Splenomegaly, Thrombocytopenia, Opti...	OMIM:611490
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Heart block, Splenomegaly, Cardiomyopathy, Microph...	ORPHA:773
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ...	OMIM:242860
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone dystrophy, Pallor, Intrahepatic bi...	OMIM:616307
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Agammaglobulinemia, X-Linked	Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea...	OMIM:300755
Cln3 Disease	Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, ...	ORPHA:228346
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Anti-Glomerular Basement Membrane Disease	Retinal detachment, Vasculitis, Anemia, Purpura	ORPHA:375
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Edema, Erythema, Cholelithiasis, Hepatic failure	OMIM:177000
Thrombocytopenia 5	Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ...	OMIM:616216
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Neutrophilia, Raynaud phenomeno...	ORPHA:3260
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Mitochondrial Complex I Deficiency, Nuclear Type 39	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia, Oligohydramnios	OMIM:620135
Beta-Ketothiolase Deficiency	Hepatomegaly, Edema, Leukocytosis, Dehydration, Hypertension, Pallor, Hypotension, Thrombocytosis	ORPHA:134
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut...	OMIM:601495
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Microcytic anemia, Congesti...	ORPHA:90308
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Palpebral edema, Brushfield spots, Jaund...	OMIM:214110
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Miscarriage, Anisocytosis, Jau...	ORPHA:71275
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Pro...	ORPHA:398124
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Epistaxis, Hypersplen...	OMIM:230800
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Congestive heart failure, Abnormal pancre...	ORPHA:48818
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Patent ductus...	OMIM:606003
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati...	OMIM:308300
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Diamond-Blackfan Anemia	Acute myeloid leukemia, Nonimmune hydrops fetalis, Pure red cell aplasia, Erythroid hypoplasia, D...	ORPHA:124
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Dry skin	ORPHA:3085
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Abnormality of the liver, Cataract, Optic atrophy	ORPHA:44
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly, Leukocytosis, Hep...	OMIM:612840
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Third degree atrioventricular block	ORPHA:480
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Fumarase Deficiency	Polyhydramnios, Intrahepatic cholestasis, Conjunctival icterus, Optic atrophy, Ascites, Pallor, H...	OMIM:606812
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation, Skin ulcer	ORPHA:1117
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci...	OMIM:240500
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol...	OMIM:616433
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Pericarditis, ...	OMIM:619487
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilated cardiomy...	ORPHA:563
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
Chédiak-Higashi Syndrome	Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ...	ORPHA:167
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Cinca Syndrome	Papilledema, Eosinophilia, Lymphedema, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:607115
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Coloboma, Hypertension, Portal fibros...	OMIM:619111
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Ecchymosis, ...	ORPHA:88
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Joubert Syndrome 22	Microphthalmia, Coloboma, Retinal dysplasia, Intrauterine growth retardation	OMIM:615665
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy	OMIM:520000
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransf...	OMIM:278000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretin...	ORPHA:5
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro...	ORPHA:90362
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Telangiectasia of the ...	ORPHA:3019
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Fanconi Anemia, Complementation Group E	Pancytopenia, Hyperpigmentation of the skin, Anemic pallor, Reticulocytopenia, Anemia, Neutropeni...	OMIM:600901
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Decreased liver...	OMIM:220110
Fanconi Anemia, Complementation Group C	Pancytopenia, Hyperpigmentation of the skin, Anemic pallor, Reticulocytopenia, Anemia, Neutropeni...	OMIM:227645
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Congenital Enterovirus Infection	Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Thrombocytop...	ORPHA:292
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema	OMIM:223350
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Po...	ORPHA:29072
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Death in infancy, Generalized hyperpigmentation, Numerous co...	ORPHA:2481
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Rod-cone dystrophy, Pigmentary retinopathy, Dry skin, Subcapsular ...	OMIM:268020
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R...	OMIM:105650
Boutonneuse Fever	Renal insufficiency, Leukopenia, Increased circulating IgG level, Increased circulating IgM level...	ORPHA:83313
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Abnormality of skin pigmentation, Neutrop...	OMIM:227650
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold	OMIM:108145
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias	OMIM:250790
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte proliferation, Ab...	ORPHA:99867
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Decreased liver function, Diffuse hepatic st...	ORPHA:436271
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Thyroiditis, Lympha...	ORPHA:83471
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Patent ductus ar...	OMIM:608328
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy, Cardiomyopathy, Third degree atrioventricular block...	OMIM:530000
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocyt...	OMIM:226300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma, Death in childhood, Microphthalmia	OMIM:613153
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Jaundice, Dilated c...	ORPHA:79282
Enhanced S-Cone Syndrome	Cataract, Edema, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Vici Syndrome	Abnormality of retinal pigmentation, Death in infancy, Cataract, Optic atrophy, Cardiomyopathy, H...	ORPHA:1493
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Pulmonic stenosis	OMIM:618914
Bazex Syndrome	Scaling skin, Lip hyperpigmentation, Anemia, Edema	ORPHA:166113
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Po...	ORPHA:276621
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Spontaneous, r...	OMIM:214500
Pituitary Apoplexy	Hypertension, Normochromic anemia, Pallor, Hypotension, Mydriasis	ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Pulmonary arterial hypertension, Death in adolescence	OMIM:619059
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Elevate...	OMIM:614866
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt...	OMIM:300367
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Dehydration, Death in adolescence, Mottled pigmentation of photoexposed areas, Pigm...	OMIM:560000
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall...	ORPHA:263455
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy	OMIM:252011
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Hypothyroidism, Hypoplasi...	ORPHA:84064
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Unilateral renal agenesis, Abnormal T...	ORPHA:221139
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun...	ORPHA:3208
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Hematochezia, Pigmentary retinopat...	ORPHA:79095
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy	ORPHA:329336
Jeune Syndrome	Abnormality of retinal pigmentation, Abnormality of the liver	ORPHA:474
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Re...	ORPHA:85451
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con...	OMIM:609033
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia	OMIM:618838
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Rheumatic Fever	Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia	ORPHA:3099
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Peters anomaly, Corneal ...	OMIM:618460
Prolidase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Erythema, Skin ulcer, White fore...	ORPHA:742
Pearson Syndrome	Hydrops fetalis, Dehydration, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomeg...	ORPHA:699
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Hypertriglyceri...	ORPHA:66628
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Micr...	ORPHA:2510
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation...	ORPHA:14
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Hypertensive crisis, Edema, Myocarditis, Leukocytosis, Hypertension, Pleural em...	ORPHA:544482
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Redundant neck skin, Patent ductus arteriosus, Coloboma, Peters anomaly,...	OMIM:618652
Werner Syndrome	Abnormality of retinal pigmentation, Cataract, Telangiectasia of the skin, Miscarriage, Myocardia...	ORPHA:902
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr...	ORPHA:897
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Hypospadias, Microcytic anemia	ORPHA:98791
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu...	ORPHA:505248
Adenohypophysitis	Normochromic anemia, Pallor, Orthostatic hypotension	ORPHA:95512
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Patent ductus arteriosus, Reticulocytopenia, Anemia, Abnormality of ...	OMIM:227646
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Dravet Syndrome	Pallor	ORPHA:33069
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Increased circ...	OMIM:615816
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Hypertriglyceri...	ORPHA:179494
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Anophthalmia, Cataract, Hypermelanotic macule, Optic...	ORPHA:90321
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hypertension, Melanocytic nevus	ORPHA:2801
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Nephrocal...	OMIM:260400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Panhypophysitis	Normochromic anemia, Pallor, Orthostatic hypotension	ORPHA:95513
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Patent ductus arteriosus, Microspherophakia, Shallow anterior chamber, ...	OMIM:277600
Degcags Syndrome	Polyhydramnios, Abnormality of skin pigmentation, Leukopenia, Iron deficiency anemia, Premature g...	OMIM:619488
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Lead Poisoning	Chronic kidney disease, Imbalanced hemoglobin synthesis, Increased circulating IgE level, Abnorma...	ORPHA:330015
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Renal hypoplasia, An...	OMIM:620005
Non-Functioning Pituitary Adenoma	Hypotension, Pallor, Anemia of inadequate production	ORPHA:91349
Chromosome 6Pter-P24 Deletion Syndrome	Patent ductus arteriosus, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly, Opacification...	OMIM:612582
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Blau Syndrome	Pericarditis, Cataract, Hyperpigmentation of the skin, Abnormal retinal vascular morphology, Sple...	ORPHA:90340
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thrombocytosis, Lym...	OMIM:615934
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Abnormality of skin ...	ORPHA:193
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Retinal detachment, Abnormality of retinal pigmentat...	ORPHA:394
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Pallor, Pulmonary arterial hypertension, Optic nerve compression, Anemia	ORPHA:667
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Pallor	OMIM:617675
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In...	OMIM:617388
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia	OMIM:608068
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat...	ORPHA:508533
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis	ORPHA:348
Nephronophthisis 11	Anisocoria, Retinal degeneration, Hepatic fibrosis, Anemia	OMIM:613550
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Death in childhood	OMIM:619517
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Pigmentary retinopathy	OMIM:613156
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ...	ORPHA:391487
Rift Valley Fever	Elevated hepatic transaminase, Miscarriage, Retinitis, Hematemesis, Jaundice, Hepatitis, Retinal ...	ORPHA:319251
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decr...	ORPHA:293978
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Tay-Sachs Disease	Cherry red spot of the macula, Pallor	OMIM:272800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia	OMIM:618398
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Intrauterine growth retardation	ORPHA:2518
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Hypoplasia of the thymus, Type I diabetes mellitus, ...	ORPHA:436252
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Splenomegaly...	OMIM:216360
Maternal Uniparental Disomy Of Chromosome 4	Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary retinopathy, Rod-cone ...	ORPHA:96180
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Hepatocellular necrosis	OMIM:256000
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atr...	ORPHA:550
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L...	OMIM:242840
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cone/cone-rod dystrophy, Chronic active hepatitis, C...	OMIM:203800
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy, Corneal opacity	ORPHA:578
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Retinal pigment epithelial mottling, Cataract	OMIM:614105
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Cataract, Asplenia, Keratoconjunctivitis, Perifoveal ring of hyperautof...	OMIM:240300
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu...	ORPHA:91500
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Splenomegaly, Congestive heart fa...	OMIM:309900
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dilated cardiomyopat...	ORPHA:71212
Marfan Syndrome	Aortic regurgitation, Retinal detachment, Tricuspid regurgitation, Cataract, Ectopia lentis, Cong...	OMIM:154700
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Hydronep...	OMIM:251260
Cockayne Syndrome B	Hepatomegaly, Splenomegaly, Optic atrophy, Developmental cataract, Abnormality of skin pigmentati...	OMIM:133540
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Cataract, Redundant neck skin, ...	OMIM:214100
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia,...	ORPHA:2131
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Mic...	ORPHA:42775
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cholestasis, Pigmentary retinopathy, Cardiomyo...	ORPHA:746
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Corneal arcus, Stomatocytosis, ...	OMIM:210250
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Arteriosclerosis, Severe Juvenile	Central fundal arteriolar microaneurysms, Myocardial infarction, Central retinal vessel vascular ...	OMIM:208060
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Nephrotic sy...	ORPHA:29073
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Micropenis, Hypospadias, Microcytic anemia	ORPHA:2959
Alg12-Cdg	Hypospadias, Hypocholesterolemia, Partial absence of specific antibody response to Haemophilus in...	ORPHA:79324
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Impaired T cell function, Abnormality of the tonsils, Spleno...	ORPHA:567
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Splenomegaly, Decreased circulating total IgA, T lymphocyt...	OMIM:619381
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro...	ORPHA:157850
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Microcornea, Microphthalmia, Intrauterine growth r...	ORPHA:3380
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of retinal pigmentation, Heart block, Abnormality of the pancreas, Card...	ORPHA:175
Cockayne Syndrome	Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy...	ORPHA:191
Treacher-Collins Syndrome	Cryptorchidism, Patent ductus arteriosus, Abnormality of the adrenal glands, Hypoplasia of the th...	ORPHA:861
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Death in early adulthood, Cataract, Redundant skin, Optic at...	ORPHA:192
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract	ORPHA:88628
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia	OMIM:613177
Digeorge Syndrome	Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ...	OMIM:188400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal cardiovascular system physiology, Astigma...	ORPHA:886
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma, Microph...	OMIM:610125
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating aspartate aminotransferase concentration, Optic atrophy, Developmental catar...	OMIM:613154
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,...	ORPHA:790
Cockayne Syndrome A	Hepatomegaly, Retinal atrophy, Cataract, Splenomegaly, Retinal pigment epithelial mottling, Optic...	OMIM:216400
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy...	ORPHA:2556
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Sponastrime Dysplasia	Cataract, Neutropenia, Microcoria, Congenital aphakia, Intrauterine growth retardation	ORPHA:93357
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Bardet-Biedl Syndrome	Pigmentary retinopathy, Hepatic fibrosis, Hypertension	ORPHA:110
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa...	OMIM:600376
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulointerstitial fibr...	OMIM:607944
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased...	OMIM:612301
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula...	OMIM:209900
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Joubert Syndrome 8	Hepatomegaly, Pigmentary retinopathy, Optic disc pallor, Prolonged neonatal jaundice	OMIM:612291
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H...	OMIM:309801
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy...	ORPHA:636
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Astigmatism	ORPHA:1824
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Mucopolysaccharidosis Type 2	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal ...	ORPHA:580
Alagille Syndrome 1	Elevated hepatic transaminase, Posterior embryotoxon, Cataract, Hepatocellular carcinoma, Band ke...	OMIM:118450
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hydronephrosis, Hypoplasia of penis, Abnormal hemoglobin, Anemia	ORPHA:847
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE le...	ORPHA:449432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr...	OMIM:236670
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:217085
Xeroderma Pigmentosum, Complementation Group B	Cataract, Freckling, Optic atrophy, Pigmentary retinopathy, Microphthalmia	OMIM:610651
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he...	ORPHA:2330
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cone/cone-rod dystrophy, Optic disc pallor, Nodular ...	ORPHA:404454
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:217093
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out...	OMIM:187300
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Multiple Endocrine Neoplasia Type 2	Prominent corneal nerve fibers, Neoplasm of the liver, Palpitations, Pallor, Hypertensive crisis,...	ORPHA:653
Esophageal Atresia	Coloboma, Pallor, Polyhydramnios	ORPHA:1199
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h...	OMIM:301040
Mucopolysaccharidosis Type 3	Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic atrophy, Atrioventricular block, Pig...	ORPHA:581
Lowry-Wood Syndrome	Pigmentary retinopathy, Intrauterine growth retardation	OMIM:226960
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Micropenis, Hydrone...	ORPHA:83617
Igg4-Related Kidney Disease	Sterile pyuria, Tubulointerstitial nephritis, Increased circulating IgG level, Decreased circulat...	ORPHA:449395
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Pigmentary retinopathy, Cataract, Sclerocornea	OMIM:614230
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Pleural...	OMIM:618183
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h...	ORPHA:744
Goodpasture Syndrome	Pallor, Anemia, Pulmonary hemorrhage	OMIM:233450
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Cystinosis, Nephropathic	Hepatomegaly, Hypopigmentation of the skin, Hypopigmentation of hair, Splenomegaly, Retinal pigme...	OMIM:219800
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Cataract, Facial wrinkling, Developmental cataract, Pigmentary retinopat...	OMIM:606721
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Rod-cone dystrophy, Dilated cardiomyopathy, Optic a...	ORPHA:255210
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level	OMIM:264090
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentation of...	OMIM:234200
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Telangiectasia of the skin, Congestive heart failure, Patchy...	ORPHA:79474
Truncus Arteriosus	Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Mitral regurgitation, Dilated cardiomyopathy, Cataract	OMIM:607459
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Dehydration, Corneal crystals	ORPHA:411629
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Coloboma, Hepatic fibrosis, Neonatal death, Intrahepatic bile duct dilatat...	OMIM:619534
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Cataract	ORPHA:466768
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling	OMIM:618733
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Telangiectasia	OMIM:266270
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Cataract	OMIM:272460
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arte...	ORPHA:99125
Wiedemann-Rautenstrauch Syndrome	Cataract, Optic disc hypoplasia, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Severe i...	ORPHA:3455
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Polyhydramnios, Patent ductus arteriosus, Biliary tr...	OMIM:268300

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 Pknox1

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 Pknox1.

No publications found that use IMPC mice or data for Pknox1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Pknox1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Pknox1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pknox1^{tm2e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Pknox1^{tm2a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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