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Gene: Apbb1ip MGI:1861354

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Gene Summary

Name:
amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein
Synonyms:
proline-rich protein 48,  Prp48,  9930118P07Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased effector memory CD8-positive, alpha-beta T cell number Apbb1ipem1(IMPC)Ccpcz HOM Early adult 5.57×10-05
increased red blood cell distribution width Apbb1ipem1(IMPC)Ccpcz HOM Early adult 5.68×10-08
enlarged spleen Apbb1ipem1(IMPC)Ccpcz HOM Early adult 0.00
increased kidney weight Apbb1ipem1(IMPC)Ccpcz HOM Early adult 5.35×10-05
abnormal digit morphology Apbb1ipem1(IMPC)Ccpcz HOM Early adult 4.71×10-05
increased leukocyte cell number Apbb1ipem1(IMPC)Ccpcz HOM Early adult 8.30×10-26
increased monocyte cell number Apbb1ipem1(IMPC)Ccpcz HOM Early adult 4.30×10-07
abnormal testis morphology Apbb1ipem1(IMPC)Ccpcz HOM Early adult 0.00
decreased CD8-positive, naive alpha-beta T cell number Apbb1ipem1(IMPC)Ccpcz HOM Early adult 1.77×10-05
enlarged thymus Apbb1ipem1(IMPC)Ccpcz HOM Early adult 0.00
increased mean platelet volume Apbb1ipem1(IMPC)Ccpcz HOM Early adult 8.95×10-06
abnormal thymus morphology Apbb1ipem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Apbb1ipem1(IMPC)Ccpcz HOM Early adult 0.00
increased neutrophil cell number Apbb1ipem1(IMPC)Ccpcz HOM Early adult 1.52×10-16
increased eosinophil cell number Apbb1ipem1(IMPC)Ccpcz HOM   Early adult 1.43×10-05
decreased blood urea nitrogen level Apbb1ipem1(IMPC)Ccpcz HOM   Early adult 4.47×10-05
decreased CD8-positive, alpha-beta T cell number Apbb1ipem1(IMPC)Ccpcz HOM Early adult 2.51×10-08
increased NK cell number Apbb1ipem1(IMPC)Ccpcz HOM   Early adult 8.79×10-05
enlarged testis Apbb1ipem1(IMPC)Ccpcz HOM Early adult 0.00
increased spleen weight Apbb1ipem1(IMPC)Ccpcz HOM   Early adult 6.93×10-05
increased airway resistance Apbb1ipem1(IMPC)Ccpcz HOM Early adult 6.24×10-06
increased circulating iron level Apbb1ipem1(IMPC)Ccpcz HOM Early adult 6.86×10-05

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lacZ Expression

Expression data not available

Associated Images

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

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XRay Images Whole Body Dorso Ventral

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XRay Images Hind Leg and Hip

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XRay Images Skull Dorso Ventral Orientation

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XRay Images Skull Lateral Orientation

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XRay Images Whole Body Lateral Orientation

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XRay Images Forepaw

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Human diseases caused by Apbb1ip 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.

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

The table below shows human diseases predicted to be associated to Apbb1ip by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Synda... OMIM:615631
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Broad thumb, Lymphopenia, Neutropenia, Respira... OMIM:612541
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Asthma, Leukopenia, Refractory anemia, Bone marrow hypocellu... OMIM:616871
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Short finger, Tapered finger, Short toe, Brachydactyly, Micropenis OMIM:610680
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Juvenile Temporal Arteritis
Leukocytosis, Allergic rhinitis, Eosinophilia ORPHA:26137
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplas... OMIM:603554
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Sebastian syndrome
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... OMIM:605249
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased mean platelet volume, Ne... ORPHA:182050
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Fechtner syndrome
Hematuria, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Stage 5 chronic kidney ... OMIM:153640
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Conjugated hyperbilirubinem... OMIM:616860
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... OMIM:155100
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Pneumonia, Eosinophilia OMIM:617638
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Abnormality of the urinary system, Giant platelets, Macrothrombocytopenia OMIM:600208
Roifman Syndrome
Short toe, Delayed proximal femoral epiphyseal ossification, Broad femoral head, Bilateral single... ORPHA:353298
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymphocytopenia, Recurrent pneu... OMIM:619281
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Slc35A1-Cdg
Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Giant platelets, Hypoxemia, Abnor... ORPHA:238459
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anemia, Hep... OMIM:607115
Roifman Syndrome
Short toe, Short metacarpal, Brachydactyly, Hepatomegaly, Eosinophilia, Splenomegaly, Recurrent p... OMIM:616651
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Omenn Syndrome
Short toe, Leukocytosis, Abnormal lymphocyte morphology, Pneumonia, Lymphadenopathy, Hepatomegaly... ORPHA:39041
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Abnormality of neutrophils, P... OMIM:169400
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Asthma, Nephrotic syndrom... OMIM:618999
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Sea-blue histiocytosis, Hepatomegaly, Hypertriglyceridemia, Sple... OMIM:607616
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Splenomegaly, Anemia, Abnormality of f... ORPHA:1802
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilia OMIM:243700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Pneumonia, Hepatitis, Recurrent pneumo... ORPHA:169160
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Hepatic cysts, Abnormality of the testis size, Abnormality of t... ORPHA:400
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Epistaxis, Increased mean platelet volume, Splenomegaly OMIM:153670
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Hypogonadis... OMIM:615234
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Pneumonia, Acute myeloid leukemia, Rhinitis, Apl... ORPHA:486
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets, Epistaxis OMIM:231200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Eosinophilic Gastroenteritis
Allergic rhinitis, Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbum... ORPHA:2070
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Respiratory insufficiency, Abnormal pattern of respiration... ORPHA:724
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Abnormality of ... OMIM:274000
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Bronchiectasis, Clubbing, Joint contracture of the hand, Hip dislocation, Eosinophilia OMIM:618523
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Scapular winging, Eosinophilia OMIM:253600
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute le... ORPHA:231401
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Ab... OMIM:209950
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenop... OMIM:619164
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Chronic pulmonary obstruction, Bronchiectasis, Lymphadenitis, L... OMIM:618986
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... OMIM:304790
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia OMIM:618092
X-Linked Sideroblastic Anemia
Dyspnea, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Aspergillosis
Abnormality on pulmonary function testing, Abnormality of long bone morphology, Dyspnea, Chronic ... ORPHA:1163
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Multiple renal cysts, Dyspnea, Abnormality of femur morphology, Enla... ORPHA:464329
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Hepatic cysts, Lymphopenia, Delayed ossification of carpal bones, Metaphy... OMIM:617425
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Renal hypoplasia, Lymphopenia, Increa... ORPHA:84064
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Macrovesicular hepatic steatosis, Neutropenia, Acetabular dysplasia, Hypoalbum... OMIM:617303
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Abnormality of the ureter, Hypospadias, Sandal gap, Ascites, Anemia, S... ORPHA:1046
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent sinusitis, Thrombocytop... OMIM:613101
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Bronchiectasis, Eosinophilia OMIM:618282
Neutropenia, Chronic Familial
Clubbing of fingers, Clubbing, Neutropenia OMIM:162700
Takenouchi-Kosaki Syndrome
Cryptorchidism, Overlapping toe, Camptodactyly, Unilateral renal agenesis, Increased mean platele... OMIM:616737
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Clubbing of fingers, Increased proportion autoreactive unresponsive CD21-... OMIM:618534
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Recurrent... OMIM:617475
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion of CD4-positive helper T cells,... OMIM:300853
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Dyspnea, Interstitial pneumonitis, Cough, Lymphadenopathy, Hepatitis, Tubulointers... ORPHA:139402
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Reduced natural killer cell count,... OMIM:609981
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph... ORPHA:100025
Lathosterolosis
Postaxial hand polydactyly, Horseshoe kidney, Ambiguous genitalia, male, Toe syndactyly, Intrahep... OMIM:607330
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Respiratory insufficiency, Th... ORPHA:848
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Elevated circulating C-reactive pro... OMIM:617388
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Neutr... OMIM:150550
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia, Recurrent pneumonia OMIM:610163
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Lymphatic Filariasis
Hydrocele testis, Restrictive ventilatory defect, Wheezing, Hematuria, Urethral obstruction, Abno... ORPHA:2035
Wells Syndrome
Eosinophilia ORPHA:901
Babesiosis
Hemolytic anemia, Cough, Respiratory insufficiency, Thrombocytopenia, Jaundice, Hepatomegaly, Cli... ORPHA:108
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Neutropenia OMIM:300988
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Tapered finger, Macroorchidism OMIM:300706
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Epistaxis, Splenomegaly ORPHA:721
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia OMIM:147060
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Respiratory insufficiency, Splenomegaly ORPHA:139406
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Abnormal testis morphology, Abnormality of the lymph nodes, Abnormalit... ORPHA:54251
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Dyspnea, Pancreatic cysts, Hepatic cysts,... ORPHA:284
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Immunodeficiency 72 With Autoinflammation
Clubbing of fingers, Bronchiectasis, Increased B cell count, Increased proportion of memory T cel... OMIM:618982
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Mccune-Albright Syndrome
Hypophosphatemia, Ovarian cyst, Renal phosphate wasting, Hyperplasia of the Leydig cells, Elevate... ORPHA:562
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean pl... OMIM:222470
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Neutropenia in presence... OMIM:619220
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Respiratory i... OMIM:618278
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Throm... ORPHA:2686
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Anemia, Splenomegaly, Abnorm... OMIM:612840
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
O'Sullivan-Mcleod Syndrome
Hand muscle weakness, Intrinsic hand muscle atrophy, Eosinophilia ORPHA:99965
Refractory Anemia
Erythroid hypoplasia, Dyspnea, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic ane... ORPHA:98826
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Pulmonary arterial hypertension, Elevated hepatic iron con... ORPHA:231222
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Macrothrombocytopenia OMIM:616176
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Pulmonary arterial hypertens... ORPHA:1164
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Rhizomelia, Coxa vara, Splenomegaly, Narrow greater sc... OMIM:602271
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Hyperuricemia, Abn... ORPHA:543
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the metaphysis, Aminoaciduria, Splenomegaly ORPHA:417
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreat... ORPHA:79312
H Syndrome
Azoospermia, Bronchiectasis, Microcytic anemia, Enlarged kidney, Camptodactyly, Histiocytosis, Hy... ORPHA:168569
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Short phalanx of finger, Decreased proportion of CD4-positive helper T... ORPHA:508533
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Lymphopenia, Neutropenia, Anemia, Hypogo... OMIM:604250
Familial Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligospermia ORPHA:3000
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hydrocele testis, Radioulnar synostosis, Congenital thrombocytopenia, Neutro... OMIM:616738
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Respiratory insufficiency, Splenomegaly OMIM:228000
Immunodeficiency 20
Reduced natural killer cell count, Wheezing, Recurrent sinusitis OMIM:615707
Megalencephaly
Genu valgum, Macroorchidism, Long penis ORPHA:2477
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Idiopathic Hypereosinophilic Syndrome
Cough, Generalized lymphadenopathy, Chronic hepatitis, Pulmonary embolism, Anemia, Neutrophilia, ... ORPHA:3260
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia, T... OMIM:615415
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Pancreatic cysts, Hepatic cyst... OMIM:263200
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Rhini... ORPHA:507
Immunodeficiency 23
Allergic rhinitis, Hemolytic anemia, Bronchiectasis, Lymphopenia, Neutropenia, Membranoproliferat... OMIM:615816
Bernard-Soulier Syndrome
Partially duplicated kidney, Spontaneous, recurrent epistaxis, Macrothrombocytopenia, Impaired ri... ORPHA:274
Hereditary Folate Malabsorption
Megaloblastic anemia, Recurrent urinary tract infections, Pancytopenia, Thrombocytopenia, Eosinop... ORPHA:90045
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Cough, Abnormal natural killer cell co... ORPHA:79124
Clark-Baraitser syndrome
Genu valgum, Broad palm, Macroorchidism, Tapered finger, Short palm OMIM:300602
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Interstitial pneumonitis, Ur... ORPHA:449395
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Increased circulating gonadotropin level,... ORPHA:91349
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Asthma ORPHA:449400
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Abnormal thrombocyte morphology ORPHA:172
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Leukocytosis, Cough, Non... ORPHA:1302
Atkin-Flaitz Syndrome
Genu valgum, Broad palm, Macroorchidism, Tapered finger, Short palm OMIM:300431
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepat... OMIM:300635
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Impaired lymphocyte transformation wit... OMIM:617006
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis, Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Aicardi-Goutieres Syndrome 4
Respiratory insufficiency, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosple... OMIM:610333
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Hodgkin Lymphoma
Dyspnea, Cough, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Orotic Aciduria
Hypochromia, Hematuria, Folate-unresponsive megaloblastic anemia, Anisocytosis, Orotic acid cryst... OMIM:258900
Gaucher Disease Type 2
Respiratory distress, Cough, Hepatomegaly, Splenomegaly, Abnormal pattern of respiration ORPHA:77260
Lujan-Fryns Syndrome
Camptodactyly of finger, Arachnodactyly, Macroorchidism, Brachydactyly ORPHA:776
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Normocytic anemia, Adrenocorticotropic hormone deficiency, Hepatitis... ORPHA:199299
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Apnea, Acute kidney injury, Leukocytosis, Lymphaden... OMIM:618886
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Hypercholesterolemia, Decreased HDL cholesterol concentration,... OMIM:278000
Xp22.13P22.2 Duplication Syndrome
2-3 toe syndactyly, Macroorchidism, Polycystic ovaries, Small hand, Tapered finger ORPHA:284180
Caspase 8 Deficiency
Pneumonia, Decreased CD4:CD8 ratio, Asthma, Splenomegaly, Lymphadenopathy OMIM:607271
Coccidioidomycosis
Peritonitis, Abnormality of long bone morphology, Cough, Abnormal sperm morphology, Pneumonia, Ab... ORPHA:228123
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Metaphyseal irregularity, Conjugated hyperbilirubinemia, Hepatomegaly, Ne... OMIM:269920
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Portal hypertension, Hyperbilirubi... OMIM:616278
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Finger clino... ORPHA:8
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Camptodactyly, Unilateral renal agenesis, Increased mean platelet volume, Thromb... ORPHA:487796
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly,... OMIM:602390
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv... ORPHA:276
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Abnormal digit morpho... OMIM:614900
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Poikiloderma With Neutropenia
Recurrent sinusitis, Neutropenia, Splenomegaly, Recurrent pneumonia, Elevated circulating creatin... OMIM:604173
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Pleural effusion, Ly... OMIM:618935
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Sple... OMIM:615122
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Bronchiectasis, Reduced natural killer cell count, Perianal abscess, Chronic l... OMIM:618108
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormality of the urinary system, Limb undergrowth, Hepatom... ORPHA:2204
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Tapered toe, Macrovesicular hepatic steatosis, Respiratory insufficien... OMIM:608836
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Aminoaciduria, Macrothrombocytopenia, Thrombocytopenia, Clinodactyly, Decreased plat... OMIM:603585
Partington Syndrome
Macroorchidism ORPHA:94083
Erythrocytosis, Familial, 1
Increased hematocrit, Exertional dyspnea, Increased hemoglobin, Increased red blood cell mass, Sp... OMIM:133100
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Pneumonia,... OMIM:600903
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hyperlipidemia... ORPHA:79477
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Igg4-Related Pachymeningitis
Dyspnea, Lymphadenitis, Elevated circulating C-reactive protein concentration, Pancreatitis, Sinu... ORPHA:449427
Netherton Syndrome
Allergic rhinitis, Hypereosinophilia, Asthma OMIM:256500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Selective Igm Deficiency
Recurrent pneumonia, Cutaneous abscess, Allergic rhinitis, Decreased proportion of CD8-positive T... ORPHA:331235
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:314050
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Exertional dyspnea, Leukocytosis, Ol... ORPHA:514
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Generalized lymphadenopathy, Abnormal circulating l... ORPHA:829
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Cough, Respiratory insufficiency, Glomerulopathy, Tubulointerstitial nephritis, Asthma... ORPHA:183
Coproporphyria, Hereditary
Respiratory paralysis, Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, E... OMIM:121300
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Splenomegaly OMIM:608540
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Lymphopenia, Decreased proportion of CD4-positive helper T cel... OMIM:615518
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Decreased transferrin saturation, Incr... ORPHA:300298
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Elevated... ORPHA:1451
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Microcephalic Primordial Dwarfism, Toriello Type
Short proximal phalanx of thumb, Short middle phalanx of toe, Short middle phalanx of finger, Sho... OMIM:251190
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Enlarged kidney, Sex reversal, Polydactyly, Sc... OMIM:612651
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Pancreatic cysts, Polysplenia, Hepatic cysts, Biliary cirrhosis, Panc... OMIM:208540
Autoimmune Hemolytic Anemia
Dyspnea, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Abnormal leukocyte morphology ORPHA:98375
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Pan... ORPHA:289916
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Leukocytosis, Elevated circulating cre... ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Short foot, Neutrophilia, Brachydactyly OMIM:266265
Diffuse Alveolar Hemorrhage
Restrictive ventilatory defect, Dyspnea, Hematuria, Leukocytosis, Elevated circulating creatinine... ORPHA:90060
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Talipes equinovarus, Hepatomegaly, Splenomegaly OMIM:616719
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Respiratory distress, Leukocytosis... ORPHA:3392
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Dyspnea, Hyperphosphaturia, Metaphyseal irregularity, Polyuria, Aminoaciduria, ... OMIM:239200
Aregenerative Anemia
Erythroid hypoplasia, Dyspnea, Decreased proportion of CD4-positive helper T cells, Neutropenia, ... ORPHA:101096
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly OMIM:226990
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Transcobalamin Deficiency
Acute kidney injury, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, Methylmalonic acid... ORPHA:859
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Deep palmar crease, Stridor, Respiratory distress, Enlarged kidney, Urinary glycosaminoglycan exc... ORPHA:505248
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Congenital Erythropoietic Porphyria
Red-brown urine, Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocy... ORPHA:79277
Fragile X Syndrome
Macroorchidism, Sinusitis ORPHA:908
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Trisomy 20P
Cryptorchidism, Camptodactyly of finger, Multiple renal cysts, Preaxial hand polydactyly, Finger ... ORPHA:261318
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Neuraminidase Deficiency
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly,... OMIM:256550
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Re... OMIM:608233
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Abnormal proportion of CD4-positive T cells, Dyspnea, ... ORPHA:133
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism OMIM:300055
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Hepatomegaly, Splenomegaly OMIM:615846
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Neutr... OMIM:193670
Sarcoidosis
Bronchiectasis, Cough, Hypercalciuria, Hypercalcemia, Anemia, Leukopenia, Renal insufficiency, Ab... ORPHA:797
Glycogen Storage Disease Ib
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperuricemia, Neu... OMIM:232220
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Autosomal Dominant Hyper-Ige Syndrome
Cough, Eosinophilia, Atelectasis ORPHA:2314
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Leukocytosis, Pleural effusion, Cough, Nonproductive cough, Acute ... ORPHA:36238
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Genu valgum, Abnormality of epiphysis morphology, Thrombocytope... ORPHA:2785
Griscelli Syndrome
Abnormality of neutrophils, Abnormal circulating lipid concentration, Thrombocytopenia, Jaundice,... ORPHA:381
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Igg4-Related Submandibular Gland Disease
Prostatitis, Renal insufficiency, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland... ORPHA:449432
Muckle-Wells Syndrome
Clubbing of fingers, Renal amyloidosis, Leukocytosis, Elevated circulating C-reactive protein con... OMIM:191900
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Splenomegaly, Mediastinal lymphadenopathy, Lymph... ORPHA:545
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Enlarged kidney, Elevated circulating cre... OMIM:602088
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Hydroneph... OMIM:598500
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Pleural effusion, Hepatocel... OMIM:235200
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Neutropenia, Thrombocytopenia, Methylmalonic aciduria, Methylmalonic acidemia, An... OMIM:614857
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Tyrosinemia, Type I
Cirrhosis, Hypertyrosinemia, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular carcinoma, H... OMIM:276700
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Clinodactyly of the 5th finger, Neutropenia, Anemia OMIM:618067
Immunodeficiency 36
Lymphopenia, Bronchiectasis, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Neutropenia, Renal cyst, Chronic ... OMIM:617056
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbilirubinemia, Hepatomegaly, Jaund... OMIM:214900
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Neutropenia, Chronic sinusitis OMIM:613502
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Asthm... OMIM:612714
Mucoepithelial Dysplasia, Hereditary
Hematuria, Pneumonia, Rhinorrhea, Recurrent pneumonia, Eosinophilia OMIM:158310
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Scleroderma
Dyspnea, Acute kidney injury, Pulmonary arterial hypertension, Finger swelling, Abnormal phalange... ORPHA:801
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Hyponatremia, Macroorchidism, Pneumonia, Jaundice, Female external genital... ORPHA:90790
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume, Epistaxis OMIM:273900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibr... OMIM:200995
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Felty Syndrome
Recurrent pneumonia, Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutrope... ORPHA:47612
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Dyspnea, Epistaxis, Pancytopenia, Thrombocytopenia, Hep... OMIM:230800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Macroorchidism, Cardiomegaly ORPHA:324410
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision cir... OMIM:608203
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pleural effusion, Emphysema, Pulmonary a... OMIM:612387
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Ivic Syndrome
Limited wrist movement, Carpal bone hypoplasia, Rectovaginal fistula, Short clavicles, Short thum... OMIM:147750
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Finger swelling, Thrombocytopenia, Hepatomegaly, Hypertriglyceridemia, Sinusitis, An... OMIM:617591
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Limb undergrowth, Hepatomegaly, Coxa vara, Splenomegaly, Flared metaphy... OMIM:602557
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Decreased basophil count, Pancytopenia, S... OMIM:618394
Polyembryoma
Abdominal mass, Abnormality of the peritoneum, Macroorchidism, Elevated alpha-fetoprotein, Isosex... ORPHA:180229
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperuricemia, Anemia, Hyperlipidemia, Enlarged kidney, Epistaxis, Polycyst... ORPHA:79259
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Exertional dyspnea, Autoimmune hemolytic anemi... ORPHA:90037
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly, Hyperkalemia OMIM:608885
Mirage Syndrome
Overlapping fingers, Cryptorchidism, Radial club hand, Rocker bottom foot, Microphallus, Talipes ... OMIM:617053
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Femoral bowing, Absent tibia, Talipes equinovarus, Enlarged kidney, Preaxial... OMIM:613091
Legionnaires Disease
Restrictive ventilatory defect, Hematuria, Lymphopenia, Cough, Hyponatremia, Respiratory insuffic... ORPHA:549
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Delayed proximal femoral epiphyseal ossification, Abnormality of ep... ORPHA:90674
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormality of the anterior pituitary, Orchi... ORPHA:449563
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Exertional dyspnea, Leukocytosis, Thrombocytopenia, A... ORPHA:86839
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Abnormality of the metaphysis ORPHA:290
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Talipes equinovarus, Renal malrotation, Abnormal thumb morphology, Bifi... ORPHA:500095
Shwachman-Diamond Syndrome 1
Metaphyseal widening, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Fanconi Anemia, Complementation Group V
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Lymphopenia, Hepatomega... OMIM:616100
Opsismodysplasia
Squared iliac bones, Broad thumb, Abnormality of epiphysis morphology, Hypoplastic pubic bone, Re... ORPHA:2746
Essential Thrombocythemia
Abnormal thrombocyte morphology, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Clubbing of fingers, ... OMIM:614700
Fanconi Anemia, Complementation Group E
Cryptorchidism, Abnormal renal morphology, Horseshoe kidney, Hypergonadotropic hypogonadism, Dupl... OMIM:600901
Bone Marrow Failure Syndrome 6