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Gene: Prdx1 MGI:99523

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

peroxiredoxin 1

Synonyms:

PAG, macrophage 23kDa stress protein, prx1, thioredoxin dependent peroxide reductase 2, Prx I, osteoblast specific factor 3, Paga, PrxI, Tdpx2, Trx dependent peroxide reductase 2, MSP23, OSF-3, TDX2, macrophase stress protein 22kDa

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prdx1 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 Prdx1 (1 diseases)
Human diseases predicted to be associated with Prdx1 (957 diseases)

The table below shows human diseases associated to Prdx1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Methylmalonic Aciduria And Homocystinuria, Cblc Type		Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400

The table below shows human diseases predicted to be associated to Prdx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Oslam Syndrome	Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Multiple exostoses, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma	ORPHA:2760
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory...	OMIM:614470
Aplasia Cutis Congenita, Nonsyndromic	Aplasia cutis congenita over the scalp vertex	OMIM:107600
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Neoplasm, Osteosarcoma	OMIM:601811
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Desmoid Disease, Hereditary	Desmoid tumors, Breast carcinoma	OMIM:135290
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Osteosarcoma	OMIM:260500
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi...	ORPHA:296
Exostoses With Anetodermia And Brachydactyly, Type E	Multiple exostoses, Dermal atrophy	OMIM:133690
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Bazex Syndrome	Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma	ORPHA:166113
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Paget Disease Of Bone 3	Osteosarcoma	OMIM:167250
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Neoplasm of the central nervous system, Anemia, N...	ORPHA:69077
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Skin rash, Thin skin	ORPHA:1658
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Pruritus, Skin ulcer, Squamous cell carcinoma, Basal cell carcino...	ORPHA:409
Exostoses, Multiple, Type Ii	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses	OMIM:133701
Exostoses, Multiple, Type I	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses	OMIM:133700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Porokeratosis Of Mibelli	Pruritus, Aplasia/Hypoplasia of the skin	ORPHA:735
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi...	ORPHA:83469
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Milroy Disease	Angiosarcoma, Hydrocele testis, Neoplasm of the skin	ORPHA:79452
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop...	ORPHA:824
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He...	OMIM:619750
Scalp Defects And Postaxial Polydactyly	Aplasia cutis congenita of scalp	OMIM:181250
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma	OMIM:112250
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma	ORPHA:2762
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Incr...	ORPHA:3261
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Werner Syndrome	Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Elevated ...	OMIM:277700
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au...	OMIM:619375
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Dermoodontodysplasia	Thin skin	OMIM:125640
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati...	OMIM:300853
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Hypocalcem...	ORPHA:100025
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma	ORPHA:626
Liposarcoma	Sarcoma	ORPHA:69078
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy...	OMIM:620072
Meige Disease	Angiosarcoma, Pleural effusion	ORPHA:90186
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal ci...	ORPHA:79277
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi...	OMIM:618278
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Thin skin, Striae distensae	OMIM:225310
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Hemangioma-Thrombocytopenia Syndrome	Hemangioma, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Reduced natu...	OMIM:300400
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Porphyria, Acute Hepatic	Hemolytic anemia	OMIM:612740
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 level, Elevated circulat...	ORPHA:370348
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology...	ORPHA:2591
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Periauricular skin pits, Neurofibroma, Atrophic scars,...	ORPHA:79100
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Leukopenia, Hepati...	ORPHA:108
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:614034
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Patent ductus arteriosus, I...	OMIM:617021
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Diamond-Blackfan Anemia	Acute myeloid leukemia, Myelodysplasia, Pure red cell aplasia, Erythroid hypoplasia, Neutropenia,...	ORPHA:124
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:743
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Spars...	ORPHA:221008
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Crusting erythematous dermatitis, Erythematous plaque, Thin skin, Dermal atrophy, Milia	ORPHA:158673
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Abnormality of the ovary...	ORPHA:314478
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia	ORPHA:79405
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia	ORPHA:169090
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule	ORPHA:89843
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcin...	ORPHA:221016
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Peutz-Jeghers Syndrome	Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract...	ORPHA:2869
Cowden Syndrome 7	Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci...	OMIM:616858
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia	ORPHA:79406
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Acrogeria	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:2500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,...	ORPHA:300298
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le...	ORPHA:37748
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Yellow Nail Syndrome	Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Yellow nails, Bronchiec...	ORPHA:662
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Desmoid Tumor	Fibroma, Neoplasm of the skin, Desmoid tumors	ORPHA:873
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell ac...	ORPHA:540
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma	ORPHA:44890
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Re...	OMIM:603553
Self-Improving Dystrophic Epidermolysis Bullosa	Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia	ORPHA:79411
X-Linked Ehlers-Danlos Syndrome	Thin skin	ORPHA:75497
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Eczema, Thin skin	ORPHA:1810
Familial Melanoma	Neoplasm of the pancreas, Abnormal hair morphology, Abnormality of the lymphatic system, Melanoma...	ORPHA:618
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Recurrent respirator...	OMIM:607616
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Ulerythema Ophryogenesis	Acne, Erythematous papule, Dermal atrophy, Hyperkeratotic papule, Contact dermatitis	ORPHA:3406
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ...	OMIM:268400
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom...	ORPHA:157798
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Aplasia cutis congenita on trunk or limbs, Pruritus, Atrophic scars, Nevus, Skin erosion, Milia	ORPHA:89838
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Monosomy 22	Aplasia of the thymus, Schwannoma, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ...	ORPHA:96123
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Myelodysplasia, Absence of lymph node germinal center, Autoimmune th...	OMIM:608184
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Thymoma	Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Abnormal lymphocyte proliferat...	ORPHA:99867
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Baller-Gerold Syndrome	Lymphoma, Osteosarcoma	ORPHA:1225
Diamond-Blackfan Anemia 1	Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ...	OMIM:105650
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Hypertrich...	ORPHA:1501
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Fetal Encasement Syndrome	Thin skin	OMIM:613630
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer	ORPHA:145
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphoc...	OMIM:619164
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Fibrous Dysplasia Of Bone	Testicular neoplasm, Elevated circulating growth hormone concentration, Cutaneous myxoma, Ovarian...	ORPHA:249
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Pneumonia, Increased circulating IgE level, Squamous cell carci...	ORPHA:217390
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Cowden Syndrome 1	Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian...	OMIM:158350
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure	OMIM:177000
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Increased circulating ...	OMIM:615816
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent...	OMIM:240500
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Immunodeficiency 20	Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent sinusitis, Recu...	OMIM:615707
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Gingival fibromatosis, Skin ulcer, Papule	ORPHA:2028
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ...	ORPHA:318
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas...	OMIM:274150
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary in...	ORPHA:647
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Dermoodontodysplasia	Thin skin, Melanocytic nevus	ORPHA:1660
Aicardi Syndrome	Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang...	OMIM:304050
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r...	OMIM:301082
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract...	OMIM:616005
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia	ORPHA:172
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Immunodeficiency 27A	Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric l...	OMIM:209950
Familial Cervical Artery Dissection	Thin skin, Striae distensae	ORPHA:36382
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Thin skin	ORPHA:98892
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit...	ORPHA:848
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Thin skin	OMIM:259410
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97280
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Cheilitis Glandularis	Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma	ORPHA:1221
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Papi...	OMIM:145001
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Thin skin	OMIM:225320
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Osteochondroma, B-cell lymphoma, Burkitt lymphoma	OMIM:620232
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Microcytic anemia, Low posteri...	ORPHA:2959
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Fanconi Anemia, Complementation Group E	Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutro...	OMIM:600901
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Abnormal eosinophil morphology, Gastroi...	ORPHA:221
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology, Squamous cell carcinoma	ORPHA:542592
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Tempi Syndrome	Transudative pleural effusion, Increased circulating IgG level, Increased hematocrit, Abnormality...	ORPHA:284227
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Usual interstitial pn...	OMIM:614742
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma...	OMIM:175200
Silver-Russell Syndrome 2	Thin skin	OMIM:618905
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on the sur...	OMIM:301000
Fanconi Anemia, Complementation Group A	Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutro...	OMIM:227650
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden...	ORPHA:397596
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Skin dimple, Thin skin	ORPHA:261304
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal...	ORPHA:97282
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Abnormal lymphocyte proliferation, Hepatic...	OMIM:619573
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy...	ORPHA:100026
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neopl...	ORPHA:2584
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Congenital localized absence of skin	OMIM:132000
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc...	OMIM:619151
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Pleuritis, Leukopenia	OMIM:152700
Werner Syndrome	Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin...	ORPHA:902
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Tuberous Sclerosis 2	Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep...	OMIM:613254
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, ...	OMIM:304790
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis	OMIM:200150
Fanconi Anemia, Complementation Group C	Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Bone m...	OMIM:227645
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Wiskott-Aldrich Syndrome	Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int...	ORPHA:906
Pseudoprogeria Syndrome	Thin skin	ORPHA:2985
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Alopecia, Abnormal eyeb...	ORPHA:1775
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Aplasia cutis congenita	ORPHA:79499
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy...	ORPHA:436159
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97283
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega...	OMIM:226990
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Splenomegaly, Hamartomatous polyposis, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:2930
Recessive Dystrophic Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia	ORPHA:79409
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thin skin	ORPHA:157965
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Immunodeficiency 104	Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Fair hair, Decreased CD4:CD8 ratio, Albinism, Splen...	OMIM:608233
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia	ORPHA:79410
Familial Adenomatous Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Elevated hepatic transam...	OMIM:260400
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
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen...	ORPHA:1333
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Single lineage myelodysplasia...	ORPHA:86839
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Abnormality of the pulmon...	ORPHA:79474
Erythrocytosis, Familial, 2	Increased red blood cell mass, Hemangioma, Increased hematocrit, Increased hemoglobin	OMIM:263400
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase	ORPHA:75563
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ...	OMIM:243700
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte...	OMIM:619487
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Elevated circulating cr...	ORPHA:90038
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentra...	ORPHA:14
Abetalipoproteinemia	Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Alopecia, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pul...	ORPHA:809
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Alopecia, Sparse eye...	OMIM:305000
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Congenital Heart Defects And Ectodermal Dysplasia	Thin skin	OMIM:617364
Sézary Syndrome	Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Abnormal pleura morphology, Abnormal immunoglo...	ORPHA:3162
Familial Colorectal Cancer Type X	Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla...	ORPHA:440437
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Lichen Planopilaris	Pruritus, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Neoplasm of the oral cavity, Pa...	ORPHA:525
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Fibrosarcoma, Distichiasis, Abnormality of the pulmonary vasculature	ORPHA:33001
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Thrombocytopenia, Cryptorchidism, Premature graying of hair,...	OMIM:620365
Arthrochalasia Ehlers-Danlos Syndrome	Thin skin	ORPHA:1899
8P11.2 Deletion Syndrome	Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Cryptorchidism	ORPHA:251066
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Cigarette-paper scars, Thin skin, Webbed neck	OMIM:612350
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Felty Syndrome	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent pharyngitis, Lymphoma, Re...	ORPHA:47612
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadeno...	ORPHA:39041
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Hypocholesterolemia, Increas...	ORPHA:71
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Proteus Syndrome	Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma	OMIM:176920
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa...	ORPHA:545
Neurofibromatosis, Type I	Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl...	OMIM:162200
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Desquamative interstitial pneumonitis, ...	OMIM:615952
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Recurrent respiratory infectio...	OMIM:300635
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Fanconi Anemia, Complementation Group D2	Pancytopenia, Cryptorchidism, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Prol...	OMIM:227646
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Pruritus, Crusting erythematous dermatitis, Skin ulcer, Thin skin...	ORPHA:742
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atypical scarring of skin, Atrophic scars, Thin skin	ORPHA:75496
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Pneumonia, Autoimmune th...	ORPHA:911
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Atypical or prolonged he...	ORPHA:83471
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom...	OMIM:150800
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Focal Facial Dermal Dysplasia Type I	Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita	ORPHA:79133
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Acth-Independent Macronodular Adrenal Hyperplasia	Neoplasm, Thin skin, Striae distensae	OMIM:219080
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat...	ORPHA:168577
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti...	OMIM:618495
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ...	ORPHA:79480
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Lymphoproliferative disorder, Splenomegaly, Adren...	OMIM:609981
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Milia, Aplasia cutis congenita	ORPHA:79402
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Benign Schwannoma	Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnormality of the ...	ORPHA:252164
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma	ORPHA:438274
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Parietal Foramina 3	Aplasia cutis congenita of scalp	OMIM:609566
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Anemia	OMIM:616457
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo...	OMIM:230800
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Fanconi Anemia, Complementation Group P	Cryptorchidism, Pancytopenia, Anemia, Squamous cell carcinoma	OMIM:613951
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Splenomegaly, Ascites, Anemia	ORPHA:1046
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Nail dystrophy, Squamous cell carcinoma	OMIM:615225
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin	ORPHA:230839
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Carney Triad	Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Adre...	ORPHA:139411
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocy...	ORPHA:760
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Decreased circulating IgG level, Peritoneal effusion, Disseminated cutaneous war...	ORPHA:90362
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity	ORPHA:391
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Decreased circulating IgG level, Autoimmune thrombocytopenia, Bronch...	OMIM:614700
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb	Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma...	OMIM:613675
Familial Partial Lipodystrophy, Dunnigan Type	Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin	ORPHA:2348
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr...	OMIM:617052
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Myasthenia Gravis	Hemolytic anemia, Abnormal thymus morphology, Hepatitis, Pure red cell aplasia	ORPHA:589
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Anemia, Squamous cell carcinoma	OMIM:226600
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent upper respiratory tract infe...	OMIM:614868
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Dermal atrophy	OMIM:617294
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pneumonia, Splenomegal...	OMIM:615846
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Desmoid tumors, Adenocarcinoma of the colon	ORPHA:247798
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase...	ORPHA:99826
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Atypical scarring of skin	ORPHA:1366
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Premature graying ...	OMIM:127550
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,...	ORPHA:1359
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Pediatric Systemic Lupus Erythematosus	Alopecia, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Pleural effusi...	ORPHA:93552
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ...	OMIM:616415
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash...	OMIM:263700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Neurofibromatosis Type 1	Abnormal hair quantity, Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipom...	ORPHA:636
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia, Abnormality of the pulmon...	ORPHA:290
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Sparse scalp hair, Anisopoikilocytosis, Anemia	OMIM:615789
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia...	ORPHA:508542
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Pparg-Related Familial Partial Lipodystrophy	Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin	ORPHA:79083
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Decreased circulating total IgM, Melanoma, Basal cell carcinoma, Squa...	OMIM:620040
Adams-Oliver Syndrome 4	Aplasia cutis congenita, Patent ductus arteriosus	OMIM:615297
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608799
Tuberous Sclerosis 1	Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino...	OMIM:191100
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman...	ORPHA:201
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly	ORPHA:313855
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Poikilocytosis, Acanthocytosis	OMIM:618947
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom...	ORPHA:1018
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Mediastinal lymphadenopathy, Bro...	ORPHA:169105
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Le...	OMIM:620210
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, ...	OMIM:210900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Persistence of hemoglobin F, Incr...	OMIM:300946
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa...	ORPHA:33226
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Laryngeal carcinoma, Carcinoma, Nail dystrophy, Hypercholesterolemia, Decre...	OMIM:610644
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,...	ORPHA:2785
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc...	OMIM:613490
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati...	ORPHA:46059
Pigmented Nodular Adrenocortical Disease, Primary, 2	Thin skin, Striae distensae	OMIM:610475
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Paroxysmal Cold Hemoglobinuria	Recurrent respiratory infections, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:90035
Cutis Laxa, Autosomal Recessive, Type Iiia	Thin skin	OMIM:219150
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H...	ORPHA:50944
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Shigellosis	Hyponatremia, Pneumonia, Abscess, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Ch...	ORPHA:810
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc...	OMIM:603554
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Lymphoma, Increased total bilirubin	ORPHA:90036
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel...	ORPHA:276152
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal hair morphology, Patent ductus arteriosus, Elliptocytosis	ORPHA:86818
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic system, He...	ORPHA:464329
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Adrenocortical ade...	ORPHA:97261
Kosaki Overgrowth Syndrome	Xanthelasma, Myofibromatosis, Thin skin	OMIM:616592
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Squamous cell carcinoma	OMIM:613736
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm	OMIM:614350
Focal Dermal Hypoplasia	Macule, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Patent ductus arteriosu...	ORPHA:2092
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary c...	ORPHA:99889
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Acrofacial Dysostosis Syndrome Of Rodriguez	Thin skin	OMIM:201170
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere...	OMIM:615387
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Dermal atrophy, Squamous cell carcinoma	ORPHA:90342
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Trichorrhex...	ORPHA:84064
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
19Q13.11 Microdeletion Syndrome	Aplasia cutis congenita, Thin skin	ORPHA:217346
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia, Macrovesicular hepati...	OMIM:617303
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin	ORPHA:1643
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Hypercalcemia, Enlarged kidney, Increased blood urea nitrogen	ORPHA:251004
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Squamous cell carcinoma, Anemia, Decreased serum zinc, Hypoalbuminemia, Dec...	ORPHA:89842
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car...	ORPHA:157794
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Osteochondroma	OMIM:610474
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Fibroma, Primary ...	ORPHA:99880
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h...	OMIM:615688
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Milia, Congenital localized absence of skin	OMIM:226700
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Recurr...	OMIM:170100
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Hypopigmented skin patches, Skin ulcer, Squamous cell carcinoma, Thin skin, Papu...	ORPHA:2907
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Fibroma, Primary ...	ORPHA:143
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis du...	ORPHA:572
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Osteogenesis Imperfecta, Type Ii	Thin skin	OMIM:166210
Schopf-Schulz-Passarge Syndrome	Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h...	OMIM:224750
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Thin skin, Striae distensae	OMIM:219090
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Juvenile gastrointestinal polyposis, Juvenile colonic po...	ORPHA:2929
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Thin skin	OMIM:607823
Amme Complex	Elliptocytosis	OMIM:300194
Lhermitte-Duclos Disease	Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Patent ductus arteriosus, Increased mean corpuscular volume, Macrocy...	OMIM:612561
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circula...	OMIM:618394
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti...	OMIM:620296
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Synop...	OMIM:606003
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos...	OMIM:260920
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia	ORPHA:98791
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Marshall-Smith Syndrome	Thin skin	ORPHA:561
Pigmented Nodular Adrenocortical Disease, Primary, 1	Thin skin, Striae distensae	OMIM:610489
Xeroderma Pigmentosum	Macule, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Melanoma, Neoplasm,...	ORPHA:910
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Scarring alopecia of scalp, Abnormal circulating porphyr...	ORPHA:95159
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Tarp Syndrome	Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Pulmonary hypoplasia, Thick ...	ORPHA:2886
Rothmund-Thomson Syndrome	Calcinosis, Aplastic anemia, Sparse eyelashes, Myelodysplasia, Alopecia totalis, Sparse eyebrow, ...	ORPHA:2909
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pneumonia, Pers...	OMIM:619769
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchidism, Patent ductus...	OMIM:163950
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidemia, Lym...	ORPHA:79477
Pantothenate Kinase-Associated Neurodegeneration	Abetalipoproteinemia, Acanthocytosis	ORPHA:157850
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Ehlers-Danlos Syndrome, Periodontal Type, 1	Atrophic scars, Thin skin	OMIM:130080
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Alopecia, Recurrent pneumonia, B...	OMIM:616576
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Czech Dysplasia	Osteochondroma	OMIM:609162
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Adult Syndrome	Dermal atrophy, Eczema, Thin skin	OMIM:103285
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Short Syndrome	Thin skin	OMIM:269880
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cafe-au-lait spot, Thin skin	OMIM:617804
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo...	ORPHA:77259
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Leukopenia, Emphysema, Hemolytic anemia, Hepato...	ORPHA:797
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated ...	ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,...	OMIM:617591
Zimmermann-Laband Syndrome	Hepatomegaly, Splenomegaly, Gingival fibromatosis, Long eyelashes, Generalized hypertrichosis, Fa...	ORPHA:3473
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrophic scars, Thin skin	ORPHA:230851
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Gitelman Syndrome	Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp...	ORPHA:358
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Elevated circulating growth hormone concentration, Abnormal...	ORPHA:2796
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Leukocytos...	ORPHA:544482
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Juvenile Polyposis Syndrome	Duodenal adenocarcinoma, Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Huriez Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:384
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu...	ORPHA:30
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro...	OMIM:619381
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of...	OMIM:278760
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Elliptocytosis, Anemia, Synophrys	OMIM:300990
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Thin skin, Erythroderma	OMIM:615895
Adult Syndrome	Thin skin, Skin ulcer, Melanocytic nevus	ORPHA:978
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Aplasia cutis congenita	OMIM:612138
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thrombocytopenia, ...	ORPHA:391487
Poems Syndrome	Lymphoproliferative disorder, Leukonychia, Lymphadenopathy, Pleural effusion, Increased circulati...	ORPHA:2905
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule	ORPHA:257
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Glioma, Recurrent bronchitis, Rhabdomyosarcoma, Dysgammaglobulinemia...	OMIM:251260
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Patent ductus arteriosus, Thin skin, Webbed neck, Cafe-au-lait spot, Facial hem...	OMIM:617506
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Premature Aging Syndrome, Penttinen Type	Keloids, Skin nodule, Thin skin, Dermal atrophy	OMIM:601812
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Mandibuloacral Dysplasia	Thin skin	ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dermal atrophy, Thin skin	ORPHA:90154
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Recon Progeroid Syndrome	Thin skin	OMIM:620370
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin	ORPHA:280365
Polycythemia Vera	Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Geroderma Osteodysplastica	Thin skin	ORPHA:2078
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, Sparse body hair, Aplasia...	ORPHA:1133
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Thin skin	ORPHA:449291
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Cowden Syndrome 6	Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr...	OMIM:615109
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Thin skin	ORPHA:1812
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Hypohidrotic Ectodermal Dysplasia	Eczema, Thin skin	ORPHA:238468
Localized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ...	ORPHA:251393
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dermal atrophy, Thin skin	ORPHA:90153
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Early balding, Desmoid tumors, Low posterior hairline, Iron deficiency anemia, Osteoma, Hepatobla...	ORPHA:261584
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Congenital Heart Defects And Skeletal Malformations Syndrome	Thin skin	OMIM:617602
Cutis Laxa, Autosomal Recessive, Type Iiib	Thin skin	OMIM:614438
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Myelodysp...	ORPHA:3260
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas...	ORPHA:171
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Thrombocytopen...	OMIM:214500
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circ...	OMIM:235200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Glass Syndrome	Thin skin	OMIM:612313
Dermatosparaxis Ehlers-Danlos Syndrome	Thin skin	ORPHA:1901
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly	OMIM:261750
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Lead Poisoning	Decreased HDL cholesterol concentration, Increased circulating IgE level, Imbalanced hemoglobin s...	ORPHA:330015
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:536
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, ...	OMIM:612541
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope...	ORPHA:37042
Idiopathic Pulmonary Arterial Hypertension	Chronic hemolytic anemia, Right ventricular hypertrophy	ORPHA:275766
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
De Barsy Syndrome	Patent ductus arteriosus, Thin skin	ORPHA:2962
Diamond-Blackfan Anemia 10	Macrocytic anemia, Patent ductus arteriosus, Reticulocytopenia, Steroid-responsive anemia, Anemia	OMIM:613309
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Hypophosphate...	OMIM:239200
Tolchin-Le Caignec Syndrome	Osteochondroma, Thick eyebrow, Hirsutism, Cardiac rhabdomyoma	OMIM:618971
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreas...	OMIM:612301
Osteogenesis Imperfecta, Type I	Thin skin	OMIM:166200
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi...	ORPHA:363700
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv...	OMIM:222700
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Stuve-Wiedemann Syndrome 1	Milia, Thin skin	OMIM:601559
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Dystrophic toenail, Ri...	OMIM:616028
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Hypercalcemia, Small cell lung carcinoma, Patent ductus art...	ORPHA:821
Kaufman Oculocerebrofacial Syndrome	Preauricular skin tag, Thin skin	OMIM:244450
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	ORPHA:2388
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Atrophic scars, Thin skin	ORPHA:536467
Rapp-Hodgkin Syndrome	Thin skin	OMIM:129400
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Ataxia-Telangiectasia	Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Neoplasm	ORPHA:100
Multiple Osteochondromas	Osteochondroma, Chondrosarcoma, Pneumothorax, Rib exostoses, Scapular exostoses, Hemothorax	ORPHA:321
Distal Renal Tubular Acidosis	Hemolytic anemia, Hypokalemia	ORPHA:18
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Flynn-Aird Syndrome	Dermal atrophy	OMIM:136300
Arterial Tortuosity Syndrome	Thin skin	OMIM:208050
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Elevated circulating alpha-fetoprotein concentrat...	ORPHA:116
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Trichothiodystrophy	Sparse scalp hair, Brittle hair, Cryptorchidism, Recurrent bronchopulmonary infections, Increased...	ORPHA:33364
Spondylodysplastic Ehlers-Danlos Syndrome	Atrophic scars, Numerous nevi, Thin skin, Exostoses	ORPHA:536471
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Eczema, Thin skin, Hypoplastic-absent sebaceous glands	OMIM:305100
Focal Facial Dermal Dysplasia Type Iii	Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches	ORPHA:1807
Papillon-Lefèvre Syndrome	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Liver abscess, Squamous ...	ORPHA:678
Oculocerebral Hypopigmentation Syndrome, Cross Type	Thin skin	ORPHA:2719
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc...	ORPHA:2969
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pneumonia, Splenomegaly, Hepatitis, Abnormal pulmona...	ORPHA:781
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:90051
Whipple Disease	Hyponatremia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pleuritis, Anemia	ORPHA:3452
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Splenomegaly, Mic...	OMIM:619418
Chromomycosis	Lymphangiectasis, Abnormal lung morphology, Multiple cutaneous malignancies, Squamous cell carcinoma	ORPHA:182
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thin skin	OMIM:612199
Legionnaires Disease	Hyponatremia, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recur...	ORPHA:549
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia	ORPHA:664
Arterial Tortuosity Syndrome	Thin skin	ORPHA:3342
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Adams-Oliver Syndrome 3	Aplasia cutis congenita	OMIM:614814
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp	OMIM:619817
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circ...	ORPHA:50918
Trichohepatoenteric Syndrome 1	Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Hepatomegaly, Increased mean platel...	OMIM:222470
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath...	ORPHA:85414
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Leukopenia, Abn...	ORPHA:1304
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchiectasis, Abnormal p...	OMIM:612387
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, Squamous cell carcinoma, Iron deficiency anemia, Bas...	ORPHA:79408
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia	OMIM:230900
Cushing Disease	Acne, Pituitary corticotropic cell adenoma, Recurrent cutaneous fungal infections, Skin ulcer, Th...	ORPHA:96253
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Malar rash, Annular cutaneous lesion, Dermal atrophy	ORPHA:163525
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Elevated ci...	OMIM:276700
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti...	ORPHA:2137
Linear Skin Defects With Multiple Congenital Anomalies 2	Aplasia cutis congenita, Asymmetric, linear skin defects	OMIM:300887
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cryptorchidism, Abnormal hemoglobin, Anemia	ORPHA:847
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Hypocalcemia, Th...	OMIM:619503
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Loeys-Dietz Syndrome	Atypical scarring of skin, Patent ductus arteriosus, Thin skin, Striae distensae	ORPHA:60030
Kindler Epidermolysis Bullosa	Neoplasm of the urethra, Anemia, Squamous cell carcinoma	ORPHA:2908
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated he...	OMIM:619991
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Pneumonia, Pneumothorax, Abnormal blood ion concentration, Renal tubular epithelial nec...	ORPHA:79404
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hy...	OMIM:235555
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Molluscoid pseudotumors, Thin skin	OMIM:225400
Stiff Skin Syndrome	Subcutaneous nodule, Aplasia/Hypoplasia of the skin	ORPHA:2833
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple...	OMIM:613563
Meier-Gorlin Syndrome 1	Thin skin	OMIM:224690
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen...	OMIM:612852
Xeroderma Pigmentosum, Complementation Group A	Hypermelanotic macule, Melanoma, Squamous cell carcinoma of the skin, Dermal atrophy, Verrucous e...	OMIM:278700
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respirato...	OMIM:232240
Familial Tumoral Calcinosis	Splenomegaly, Neoplasm of the skin, Hepatomegaly	ORPHA:53715
Hennekam Syndrome	Benign neoplasm of the central nervous system, Recurrent respiratory infections, Sparse axillary ...	ORPHA:2136
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy	OMIM:278740
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in...	ORPHA:77261
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Squamous cell carcinoma, Fine hair, Basal cell carcinoma, Nail dystr...	OMIM:601675
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Tooth Agenesis, Selective, 4	Thin skin	OMIM:150400
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Oculocerebrocutaneous Syndrome	Skin tags, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Preauricular skin tag, Exo...	ORPHA:1647
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Thin skin	OMIM:266920
Helsmoortel-Van Der Aa Syndrome	Thin skin	OMIM:615873
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	OMIM:278750
Kabuki Syndrome 1	Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Sparse eyebrow, Cryptorchid...	OMIM:147920
Lenz-Majewski Hyperostotic Dwarfism	Thin skin	OMIM:151050
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Thin skin	ORPHA:536545
Even-Plus Syndrome	Aplasia cutis congenita, Atopic dermatitis	OMIM:616854
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Cryptorchidism, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Zimmermann-Laband Syndrome 1	Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegaly, Synophrys, Patent d...	OMIM:135500
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Spleno...	ORPHA:379
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Recurrent respiratory infections, Sparse scalp hair, Bilateral cryptorchidism, Re...	OMIM:150230
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp	OMIM:618373
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:1657
Xeroderma Pigmentosum, Complementation Group C	Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous melanoma, Ac...	OMIM:278720
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Pneumonia, Lymphocytic interstitial pneumonia, Respiratory tract infectio...	ORPHA:2968
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly...	OMIM:256040
Ablepharon Macrostomia Syndrome	Thin skin	ORPHA:920
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N...	OMIM:232220
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Squamous cell carcinoma, Nail dy...	OMIM:148210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration	OMIM:175780
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca...	ORPHA:158684
Warburg-Cinotti Syndrome	Thin skin, Cholesteatoma	OMIM:618175
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1787
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Abnormality of hair texture, Splenomegaly, Pulmon...	ORPHA:667
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Nephroblastoma, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circu...	ORPHA:373
Restrictive Dermopathy 1	Skin erosion, Patent ductus arteriosus, Thin skin	OMIM:275210
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233690
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Atelectasis, Recurrent pneumonia, Lymph...	OMIM:306400
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches	ORPHA:1553
Nodular Non-Suppurative Panniculitis	Subcutaneous nodule, Aplasia/Hypoplasia of the skin	ORPHA:33577
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Gaucher Disease	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:355
Blau Syndrome	Clear cell renal cell carcinoma, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnorma...	ORPHA:90340
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Pallister-Hall Syndrome	Osteochondroma, Thyroid hypoplasia, Hypopituitarism, Midline facial capillary hemangioma, Cryptor...	ORPHA:672
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga...	ORPHA:30391
Cutis Marmorata Telangiectatica Congenita	Aplasia/Hypoplasia of the skin, Blue nevus, Patent ductus arteriosus, Capillary hemangioma, Multi...	ORPHA:1556
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Thin skin	OMIM:129900
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno...	OMIM:181000
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Wiedemann-Rautenstrauch Syndrome	Thin skin	OMIM:264090
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous me...	OMIM:610651
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Lyme Disease	Skin nodule, Dermal atrophy	ORPHA:91546
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ...	ORPHA:99827
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Patent ductus arteriosus, Hamartoma, Hepatomegaly	OMIM:617088
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Aplasia/Hypoplasia of the skin	ORPHA:1979
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy	ORPHA:220295
Wiedemann-Rautenstrauch Syndrome	Recurrent skin infections, Thin skin	ORPHA:3455
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Dermal atrophy, Skin ulcer	ORPHA:454831
Digeorge Syndrome	Parathyroid agenesis, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Atelectas...	OMIM:188400
Hypermobile Ehlers-Danlos Syndrome	Atypical scarring of skin, Subcutaneous nodule, Thin skin	ORPHA:285
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Ablepharon-Macrostomia Syndrome	Thin skin	OMIM:200110
Lipodystrophy, Familial Partial, Type 7	Thin skin	OMIM:606721
Epidermolysis Bullosa, Lethal Acantholytic	Skin erosion, Aplasia cutis congenita	OMIM:609638
Desmosterolosis	Patent ductus arteriosus, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:35107
Dysosteosclerosis	Aplasia/Hypoplasia of the skin	ORPHA:1782
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Atrophic scars, Squamous ce...	ORPHA:79396
Adams-Oliver Syndrome	Aplasia cutis congenita, Aplasia/Hypoplasia of the skin	ORPHA:974
Vascular Ehlers-Danlos Syndrome	Macule, Subcutaneous nodule, Cigarette-paper scars, Melanocytic nevus, Thin skin	ORPHA:286
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal atrophy	ORPHA:69735
Hoyeraal-Hreidarsson Syndrome	Neoplasm, Dermal atrophy	ORPHA:3322
Autosomal Recessive Multiple Pterygium Syndrome	Aplasia/Hypoplasia of the skin, Nevus, Webbed neck	ORPHA:2990
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypoplastic pilosebaceous units	OMIM:601345
Xeroderma Pigmentosum, Complementation Group D	Melanoma, Dermal atrophy	OMIM:278730
Barber-Say Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:1231
Oculoectodermal Syndrome	Preauricular skin tag, Aplasia cutis congenita, Patent ductus arteriosus, Epidermal nevus	OMIM:600268
Eec Syndrome	Aplasia/Hypoplasia of the skin, Lymphoma, Nevus	ORPHA:1896
Junctional Epidermolysis Bullosa With Pyloric Atresia	Aplasia cutis congenita, Recurrent skin infections	ORPHA:79403
Toriello-Lacassie-Droste Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:3339
Kindler Syndrome	Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy	OMIM:173650
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Dermal atrophy	ORPHA:2556
Lenz-Majewski Hyperostotic Dwarfism	Aplasia/Hypoplasia of the skin	ORPHA:2658
Branchiooculofacial Syndrome	Preauricular pit, Lower lip pit, Dermoid cyst, Postauricular pit, Atypical scarring of skin, Supr...	OMIM:113620

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 Prdx1

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 Prdx1.

No publications found that use IMPC mice or data for Prdx1.

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
Prdx1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Prdx1^{tm44950(L1L2_gt1_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Prdx1^{tm44950(pL1L2_GT1_bsd_frt15_neo_barcode)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Prdx1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Prdx1^{tm44950(pL1L2_frt15_BetactinBSD_frt14_neo_Rox)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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