Gene: Pknox1 MGI:1201409

Gene Summary

Name:

Pbx/knotted 1 homeobox

Synonyms:

PREP1, D17Wsu76e

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 T cell number	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	6.13×10^-05
abnormal urination	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	3.65×10^-05
decreased B cell number	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	4.72×10^-05
decreased mature B cell number	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	6.01×10^-08
decreased circulating triglyceride level	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	5.94×10^-05
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 mean corpuscular hemoglobin concentration	Pknox1^{Gt(EUCJ0079d10)Hmgu}	HET	Early adult	2.95×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

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 (802 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	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 18	Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Immunodeficiency 40	Lymphopenia	OMIM:616433
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre...	OMIM:300400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism	OMIM:183350
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Methy...	ORPHA:859
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi...	OMIM:615234
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Autoimmune ...	OMIM:247800
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Nephronophthisis	Anemia, Abnormality of retinal pigmentation	ORPHA:655
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Diamond-Blackfan Anemia 17	Anemia, Hyperpigmentation of the skin	OMIM:617409
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation	ORPHA:2802
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil...	OMIM:615631
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Pericarditis, Polyhydra...	ORPHA:163596
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i...	OMIM:301082
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp...	OMIM:608898
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Hyperlysinemia, Type I	Anemia, Ectopia lentis	OMIM:238700
Acute Peripheral Arterial Occlusion	Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarction, Ab...	ORPHA:90064
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly	ORPHA:228312
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia...	OMIM:610163
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen...	ORPHA:75564
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Thrombocytopenia, Elevated hepatic t...	ORPHA:858
Cone-Rod Dystrophy 11	Macular degeneration, Pallor, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Decreased hemoglobin concentration,...	OMIM:266200
Peripheral Cone Dystrophy	Pallor, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor	OMIM:609021
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract	ORPHA:171844
Anterior Segment Dysgenesis 8	Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca...	OMIM:617319
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Retinohepatoendocrinologic Syndrome	Pallor, Degenerative liver disease, Cone dystrophy, Optic disc pallor, Abnormality of skin pigmen...	OMIM:268040
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Retinitis Pigmentosa 27	Rod-cone dystrophy, Pallor, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atr...	OMIM:613750
Mu-Heavy Chain Disease	Increased circulating antibody level, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnorma...	ORPHA:100024
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Pallor, Paroxysmal atrial tachycardia, Retinal dystrophy, Optic atrophy, Th...	ORPHA:49827
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Congenital Rubella Syndrome	Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Splenomegaly, Aplas...	ORPHA:290
Acute Myelomonocytic Leukemia	Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Elevated hepatic transaminase, Hyperpigmentation of the skin, Anemia	ORPHA:75563
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, B lymphocytopenia, Abnormality of humoral immunity, T lymph...	ORPHA:277
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu...	OMIM:615285
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619510
Retinitis Pigmentosa 42	Pallor, Rod-cone dystrophy	OMIM:612943
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly	OMIM:619164
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pal...	ORPHA:848
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia	OMIM:601457
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Oculoauricular Syndrome	Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret...	OMIM:612109
Microspherophakia-Metaphyseal Dysplasia	Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma	OMIM:157151
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver	OMIM:206100
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Hydrops fetalis, Thrombocytopenia, Anemia, Ascites, Intrauterine gro...	ORPHA:295
Retinitis Pigmentosa 60	Pallor, Rod-cone dystrophy	OMIM:613983
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T 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
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Pallor, Anisocytosis,...	OMIM:616959
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Retinitis Pigmentosa 70	Pallor, Optic disc pallor, Retinal degeneration, Rod-cone dystrophy	OMIM:615922
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Sorsby Pseudoinflammatory Fundus Dystrophy	Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula...	ORPHA:59181
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Familial Drusen	Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig...	ORPHA:75376
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice	OMIM:613839
Retinitis Pigmentosa 36	Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor...	OMIM:610599
Central Areolar Choroidal Dystrophy	Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi...	ORPHA:75377
Choroideremia	Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at...	OMIM:303100
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Zika Virus Disease	Miscarriage, Lens subluxation, Conjunctivitis, Absent foveal reflex, Retinal pigment epithelial m...	ORPHA:448237
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,...	ORPHA:231222
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Primary Myelofibrosis	Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato...	ORPHA:824
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly...	OMIM:616005
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro...	OMIM:600462
Optic Atrophy 9	Optic atrophy, Pallor	OMIM:616289
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Glutathione Synthetase Deficiency	Hemolytic anemia, Pigmentary retinopathy, Neutropenia	OMIM:266130
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor...	ORPHA:3226
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c...	OMIM:618986
Persistent Placoid Maculopathy	Abnormal macular morphology, Choroidal neovascularization, Retinal pigment epithelial mottling, H...	ORPHA:97341
Evans Syndrome	Neutropenia in presence of anti-neutropil antibodies, Petechiae, Jaundice, Pallor, Autoimmune thr...	ORPHA:1959
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Cataract, Neonatal death	OMIM:273680
Microspherophakia With Hernia	Microspherophakia, Superior lens subluxation, Retinal detachment	OMIM:157150
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,...	ORPHA:83461
Leber Congenital Amaurosis 13	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:612712
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Anemia, Sideroblastic, 1	Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,...	OMIM:300751
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis	OMIM:251750
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hepatomegaly, Cardiomyopathy	OMIM:609016
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Leishmaniasis	Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ...	ORPHA:507
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Spondylo-Ocular Syndrome	Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation, Cataract, Microphthalmia	ORPHA:85194
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Pallor, Rod-cone dystrophy	OMIM:617717
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni...	OMIM:619802
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cataract, Death in infancy, Microphthalmia, I...	ORPHA:1466
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,...	OMIM:194380
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma...	OMIM:619774
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Melena, Pallor, Anisocytosis, Poikilocytosis, Elevated hepatic...	ORPHA:98870
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology, Albi...	ORPHA:2786
Microphthalmia, Isolated 5	Foveoschisis, Abnormal foveal morphology, Cystoid macular edema, Rod-cone dystrophy, Optic disc d...	OMIM:611040
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic...	OMIM:251270
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ...	ORPHA:822
X-Linked Retinal Dysplasia	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia	ORPHA:1852
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Splenomegaly, Pallor, Arrhythmia, Hemolytic anemia, Congestive hea...	ORPHA:98375
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Hydrops Fetalis, Nonimmune	Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:236750
Liberfarb Syndrome	Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen...	OMIM:618889
Leber Congenital Amaurosis 14	Pallor, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Polycythemia Vera	Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere...	OMIM:263300
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia	OMIM:205950
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Coombs-positive hemolyt...	OMIM:603909
Retinitis Pigmentosa 73	Pallor, Retinal atrophy, Rod-cone dystrophy	OMIM:616544
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy...	OMIM:600802
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Palpitations, Anemic pallor, Abnormal mean corpusc...	ORPHA:86839
Waldenström Macroglobulinemia	Hepatomegaly, Abnormal retinal vascular morphology, Splenomegaly, Pallor, Normocytic anemia, Reti...	ORPHA:33226
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Anisocytosis, Skin ulcer, Jaundice, Splenomegaly, Extramedulla...	ORPHA:231226
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Anterior Segment Dysgenesis 2	Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Microphthal...	OMIM:610256
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret...	OMIM:180210
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt...	ORPHA:231214
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:615990
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov...	ORPHA:85128
Bietti Crystalline Dystrophy	Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning...	ORPHA:41751
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613809
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ...	OMIM:602450
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Congenital hepatic fibrosis, Cataract, Hy...	ORPHA:3156
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal...	OMIM:614500
Microphthalmia, Isolated, With Coloboma 6	Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma	OMIM:613703
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Jaundice	OMIM:312500
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,...	OMIM:618048
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Nephrotic syndrome, Absent isohemagglutinin level, Splenome...	OMIM:615559
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa...	ORPHA:300298
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Central Retinal Vein Occlusion	Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati...	ORPHA:411527
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced...	OMIM:300908
Optic Atrophy 1	Optic atrophy, Pallor	OMIM:165500
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,...	ORPHA:766
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Dermatitis, Atopic	Pallor, Dry skin, Facial erythema, Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ...	ORPHA:35078
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom...	OMIM:557000
Transaldolase Deficiency	Telangiectasia, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Edema, Premature skin wrinkling, ...	ORPHA:101028
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:611590
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hyperpigmentation of the sk...	OMIM:613313
Retinitis Pigmentosa 51	Macular degeneration, Rod-cone dystrophy, Pallor, Attenuation of retinal blood vessels, Bone spic...	OMIM:613464
Trimethylaminuria	Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia	OMIM:602079
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i...	ORPHA:572
Retinitis Pigmentosa 9	Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:180104
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Elliptocytosis 1	Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice	OMIM:611804
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Pallor, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, T...	ORPHA:35858
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Pallor, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure	ORPHA:90037
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Intrauterine growth retardation, Abnormality of retinal pigmentation	ORPHA:2515
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Erythema, Dry skin, Gener...	ORPHA:816
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Lymphopenia, Diffuse mesangial sclerosis, Splenomegaly, Aplasia ...	OMIM:102700
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Leber Congenital Amaurosis 2	Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph...	OMIM:204100
Cold Agglutinin Disease	Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly	ORPHA:56425
Histiocytoid Cardiomyopathy	Congenital aphakia, Corneal opacity, Wolff-Parkinson-White syndrome, Pulmonary edema, Supraventri...	ORPHA:137675
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Dilated cardiomyopathy	OMIM:611283
Leber Congenital Amaurosis 1	Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu...	OMIM:204000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytope...	OMIM:603552
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia...	OMIM:133100
Achromatopsia	Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati...	ORPHA:49382
Retinitis Pigmentosa 32	Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse...	OMIM:609913
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Retinitis Pigmentosa 37	Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Arrhythmia, Hyperpigmentation of the skin, Cataract, Anemia, Hepatic ste...	OMIM:606069
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Leber Congenital Amaurosis 8	Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla...	OMIM:613835
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Edema, Periorbital edema, Cardiomyop...	ORPHA:3386
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi...	OMIM:264470
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani...	OMIM:613673
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy	OMIM:551500
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone...	OMIM:613801
Leber Congenital Amaurosis 9	Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, Attenuation of reti...	OMIM:608553
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Leigh Syndrome With Leukodystrophy	Optic atrophy, Anemia, Hypertrophic cardiomyopathy, Pigmentary retinopathy	ORPHA:255241
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Mulibrey Nanism	Hepatomegaly, Hydrops fetalis, Pigmentary retinopathy, Astigmatism, Iris coloboma, Corneal dystro...	OMIM:253250
Retinitis Pigmentosa 11	Perifoveal ring of hyperautofluorescence, Macular degeneration, Rod-cone dystrophy, Macular edema...	OMIM:600138
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Patent ductus arteriosus, Anemia...	ORPHA:2123
Tempi Syndrome	Increased hematocrit, Polycythemia, Intracranial hemorrhage, Facial erythema, Telangiectasia, Tra...	ORPHA:284227
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Congenital Disorder Of Glycosylation, Type Iq	Cutis laxa, Dry skin, Coloboma, Optic atrophy, Elevated hepatic transaminase, Microcytic anemia, ...	OMIM:612379
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Pallor, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaund...	ORPHA:90033
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Bone-marrow foam...	OMIM:607616
Stargardt Disease	Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig...	ORPHA:827
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Iron deficiency anemia, Diffuse alveolar ...	ORPHA:99931
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas...	OMIM:275350
Fanconi Anemia, Complementation Group G	Neutropenia, Multiple cafe-au-lait spots, Microphthalmia, Anemia, Thrombocytopenia, Leukemia	OMIM:614082
Kniest Dysplasia	Degenerative vitreoretinopathy, Lens luxation, Rhegmatogenous retinal detachment, Retinal detachm...	ORPHA:485
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope...	OMIM:301078
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Weill-Marchesani Syndrome 3	Microspherophakia, Aortic valve stenosis, Shallow anterior chamber, Pulmonic stenosis, Ectopia le...	OMIM:614819
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood, Anemia, Hepatomegaly	OMIM:246450
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Abnormal...	OMIM:215250
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, F...	ORPHA:276575
Retinitis Pigmentosa 30	Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B...	OMIM:607921
Ataxia-Telangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoplasia of the ...	OMIM:208900
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H...	ORPHA:276556
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli...	ORPHA:98849
Sepsis In Premature Infants	Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Tachycardi...	ORPHA:90051
Srd5A3-Cdg	Spotty hyperpigmentation, Rod-cone dystrophy, Coloboma, Optic atrophy, Elevated hepatic transamin...	ORPHA:324737
Retinitis Pigmentosa 33	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt...	OMIM:610359
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:613731
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Retinitis Pigmentosa 69	Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:615780
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased...	OMIM:613011
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Oligohydramnios, Neonatal death, Cholestasis, Thrombocyto...	OMIM:608104
Nail-Patella Syndrome	Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium	OMIM:161200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H...	ORPHA:276580
Letterer-Siwe Disease	Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice	OMIM:246400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol...	ORPHA:276
Alg8-Cdg	Cutis laxa, Retinopathy, Hydrops fetalis, Thrombocytopenia, Optic atrophy, Elevated hepatic trans...	ORPHA:79325
Retinitis Pigmentosa 76	Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore...	OMIM:617123
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr...	OMIM:616100
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169160
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Panhypogammaglobulinemia, Urinary retention,...	ORPHA:79124
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Purpura, Hyperpigmentation of the skin, Ne...	OMIM:604250
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Erythema, Microcytic anemia, Edema	ORPHA:79278
Osteopetrosis, Autosomal Recessive 4	Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic ...	OMIM:611490
Retinitis Pigmentosa 47	Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:613758
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Microcornea, Coloboma	OMIM:251505
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop...	ORPHA:443811
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Immunodeficiency 17	T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro...	OMIM:615607
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Palpebral edema, Ectopia lentis, Abnormality of retinal pigmentation	ORPHA:1259
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Hepatomegaly, Dehydration, Leukopenia, Macrocytic anemia, Optic atrophy, Anemia, Th...	ORPHA:27
Focal Segmental Glomerulosclerosis 1	Hypertension, Anemia, Edema	OMIM:603278
Retinitis Pigmentosa 90	Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ...	OMIM:619007
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dys...	ORPHA:324416
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Cone-Rod Dystrophy 8	Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Pallo...	OMIM:605549
3-Hydroxy-3-Methylglutaric Aciduria	Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Leukocytosis, Pallor, Dehydration, Leu...	ORPHA:20
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Refsum Disease	Abnormality of retinal pigmentation, Splenomegaly, Retinopathy, Dry skin, Cataract, Microphthalmi...	ORPHA:773
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Abnormal left ventricular function, Hypertensive retinopathy, Pancreati...	ORPHA:892
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:94080
Bleeding Disorder, Platelet-Type, 19	Anemia, Epistaxis, Macrothrombocytopenia	OMIM:616176
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly	OMIM:618495
Wolfram Syndrome 1	Megaloblastic anemia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Cataract, Siderobl...	OMIM:222300
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro...	OMIM:613428
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Pallor	ORPHA:90036
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos...	OMIM:616860
Fanconi Anemia, Complementation Group I	Neutropenia, Pallor, Optic nerve hypoplasia, Astigmatism, Microphthalmia, Cafe-au-lait spot, Intr...	OMIM:609053
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Anemia	OMIM:617408
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Hepatomegaly, Splenomegaly, Dehydration, Optic atrophy, Neutropenia, Anemia, Thromb...	ORPHA:79312
Congenital Stationary Night Blindness	Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re...	ORPHA:215
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Reti...	ORPHA:158029
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Anemia, Hy...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Anemia, In...	OMIM:618839
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, De...	OMIM:616084
Alpha-Methylacyl-Coa Racemase Deficiency	Abnormality of the liver, Cataract, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope	ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Tachycardia, Pancreatic islet-cell hyperplasia	ORPHA:276608
Otodental Syndrome	Retinal coloboma, Microcornea, Iris coloboma, Cataract, Microphthalmia, Lens coloboma	ORPHA:2791
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Keratoc...	ORPHA:791
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Autosomal Dominant Keratitis	Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro...	ORPHA:2334
Leber Congenital Amaurosis	Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor, Edema, Hematochezia	ORPHA:329971
Fumarase Deficiency	Hepatic failure, Polycythemia, Pallor, Cholestasis, Optic atrophy	OMIM:606812
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Hypospadias, Micropenis	OMIM:250790
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Erythema, Hemolytic anemia, Edema	OMIM:177000
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat...	OMIM:193220
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Jaundice, Death in childhood, Hypoplasia of the thymus, Palpebral edema, Opacificat...	OMIM:214110
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:300755
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Rod-cone dystrophy, Pallor, Retinal dystrophy, Hepatic cysts, ...	OMIM:616307
Retinal Venous Beading	Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Edema, Neutro...	OMIM:180080
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys...	OMIM:608133
Klippel-Trénaunay Syndrome	Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Microcytic anemia, Patent ductus arteriosus, E...	ORPHA:90308
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic...	ORPHA:364055
Anti-Glomerular Basement Membrane Disease	Purpura, Anemia, Retinal detachment, Vasculitis	ORPHA:375
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Rectal abscess...	OMIM:601495
Retinitis Pigmentosa 88	Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal...	OMIM:618826
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomeg...	OMIM:612541
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:614180
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Idiopathic Hypereosinophilic Syndrome	Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Portal fibrosis,...	ORPHA:3260
Rh Deficiency Syndrome	Hypochromia, Miscarriage, Jaundice, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia,...	ORPHA:71275
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport...	OMIM:243700
Retinitis Pigmentosa 2	Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,...	OMIM:312600
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased...	ORPHA:101096
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli...	OMIM:304020
Retinitis Pigmentosa 86	Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund...	OMIM:618613
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Pallor, Dehydration, Hypotension, Thrombocytosis, Edema, Hypertension	ORPHA:134
Thrombocytopenia 5	Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis	OMIM:616216
Erythrocytosis, Familial, 2	Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, Increased ...	OMIM:263400
Transaldolase Deficiency	Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cir...	OMIM:606003
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Dry skin	ORPHA:3085
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly, Palpebral edema, Opacification of the c...	OMIM:614866
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Dehydration, Hepatomegaly	ORPHA:28
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:600903
Hereditary Folate Malabsorption	Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia	ORPHA:90045
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy, Microcornea, Coloboma	OMIM:602499
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Morning Glory Disc Anomaly	Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma	ORPHA:35737
Neonatal Lupus Erythematosus	Abnormality of the liver, Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anem...	ORPHA:398124
Retinitis Pigmentosa 19	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt...	OMIM:601718
Gaucher Disease, Type I	Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Macular atrophy, Pulmona...	OMIM:230800
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Chorioretinal atrophy, Hepatosplenomegaly, Hepatic steatosis, Dry skin, Pericarditi...	OMIM:619487
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation, Cataract, Abnormality of the liver	ORPHA:44
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis	ORPHA:1390
Bleeding Disorder, Platelet-Type, 16	Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Leukocyte Adhesion Deficiency, Type Iii	Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenome...	OMIM:612840
Plummer-Vinson Syndrome	Pallor, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:54028
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Kearns-Sayre Syndrome	Third degree atrioventricular block, Abnormality of retinal pigmentation	ORPHA:480
Chédiak-Higashi Syndrome	Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment...	ORPHA:167
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Idiopathic Aplastic Anemia	Retinal hemorrhage, Pancytopenia, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, R...	ORPHA:88
Incontinentia Pigmenti	Keratitis, Leukocytosis, Retinal vascular proliferation, Pallor, Eosinophilia, Retinal detachment...	OMIM:308300
Myoclonus, Intractable, Neonatal	Pallor	OMIM:617235
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy...	OMIM:224120
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:614700
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Ramon Syndrome	Abnormal anterior chamber morphology, Telangiectasia of the skin, Abnormality of retinal pigmenta...	ORPHA:3019
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Death in childhood, Pigmentary retinopathy, Optic atrophy...	OMIM:220110
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Pallor, Leukopenia, ...	ORPHA:124
Retinopathy, Pigmentary, And Mental Retardation	Cataract, Pigmentary retinopathy	OMIM:268050
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Spontaneous Periodic Hypothermia	Pallor, Arrhythmia	ORPHA:29822
Cinca Syndrome	Leukocytosis, Papilledema, Eosinophilia, Hepatosplenomegaly, Lymphedema, Anemia	OMIM:607115
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia	OMIM:610023
Peripartum Cardiomyopathy	Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Left bundle b...	ORPHA:563
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o...	OMIM:240500
Retinitis Pigmentosa 56	Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath...	OMIM:613581
Aceruloplasminemia	Abnormality of retinal pigmentation, Abnormal pancreas morphology, Retinal degeneration, Macular ...	ORPHA:48818
Acute Erythroid Leukemia	Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia	ORPHA:318
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Anemia, Pericardial ...	OMIM:617300
Wilson Disease	Joint swelling, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, He...	ORPHA:905
Retinitis Pigmentosa 83	Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi...	OMIM:618173
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ...	OMIM:278000
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re...	OMIM:618144
Duodenal Neuroendocrine Tumor	Melena, Increased hematocrit, Hematemesis, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis...	ORPHA:100076
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Aplasia Cutis-Myopia Syndrome	Skin ulcer, Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Punctata Albescens	Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ...	ORPHA:52427
Congenital Enterovirus Infection	Leukocytosis, Hepatic failure, Leukopenia, Hydrops fetalis, Myocarditis, Abnormal macrophage morp...	ORPHA:292
Coach Syndrome 2	Congenital hepatic fibrosis, Coloboma, Elevated hepatic transaminase, Hepatic fibrosis, Hypertens...	OMIM:619111
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Cholestatic liver disease, Retinopathy, Chorio...	ORPHA:5
Retinitis Pigmentosa 6	Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:312612
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation, Retinal dysplasia, Coloboma	OMIM:615665
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration	OMIM:520000
Senior-Loken Syndrome 4	Anemia, Rod-cone dystrophy	OMIM:606996
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic st...	ORPHA:436271
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ...	OMIM:145350
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Subcapsular cataract, Rod-cone dystrophy, Dry skin, Pigmentary retinopathy, Elevated hepatic tran...	OMIM:268020
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Intracranial hemorrhage, Numerous congenital melanocytic nev...	ORPHA:2481
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormality of retinal pigmentation, Microphthalmia, Chylothorax, Retinopathy, Retinal detachment...	ORPHA:2526
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemic pallor, Thrombocytopenia, Pancytopenia, Hyperpigmentation of the skin, Neu...	OMIM:600901
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism	OMIM:300843
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy	OMIM:606068
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:79435
Fanconi Anemia, Complementation Group C

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